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Gene: Hspg2 MGI:96257

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

perlecan (heparan sulfate proteoglycan 2)

Synonyms:

perlecan, Plc, per, Pcn

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hspg2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Hspg2 (5 diseases)
Human diseases predicted to be associated with Hspg2 (3372 diseases)

The table below shows human diseases associated to Hspg2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e...	OMIM:255800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Flat face, Anisospondyly, Limitation of joint mobility, Micromelia, Broad long ...	ORPHA:1865
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Micrognathia, Hip contracture, Myopathy, Bowing of the long bones...	ORPHA:800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Flat face, Anisospondyly, Micromelia, Pterygium, Micrognathia, Bowing of the long bones, Talipes ...	OMIM:224410
1P36 Deletion Syndrome	Delayed cranial suture closure, Abnormality of the spleen, Narrow mouth, Hepatic steatosis, Myopa...	ORPHA:1606

The table below shows human diseases predicted to be associated to Hspg2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n...	ORPHA:93308
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir...	OMIM:132400
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Kyphosis, Abnormality of the epiphysis of the ...	ORPHA:2114
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor...	ORPHA:166002
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Mueller-Weiss Syndrome	Joint subluxation, Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of ...	ORPHA:566943
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,...	ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Difficulty walking, Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnorma...	ORPHA:99642
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig...	ORPHA:2593
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Difficulty walking, Sclerotic vertebral endplates, Flattened epiph...	OMIM:208230
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Small epiphyses, Abno...	OMIM:600969
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Irregular epiphyses, Small epiphyses, Ost...	OMIM:600204
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Reduced proximal interphalangeal joint space, Pedal ed...	ORPHA:166011
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joint mobi...	ORPHA:2619
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Epiphyseal Dysplasia, Multiple, 6	Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ...	OMIM:614135
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Bent Bone Dysplasia Syndrome 2	Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ...	OMIM:620076
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal form of the vertebral bod...	ORPHA:429
Myasthenic Syndrome, Congenital, 14	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:616228
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Antalgic gait, Tarsal stippling, Oste...	ORPHA:563991
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Flat face, Metaphyseal spurs, Posterior rib cupping, Micromelia, Irregular epiphys...	OMIM:608728
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Roun...	OMIM:251450
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos...	OMIM:271650
Familial Avascular Necrosis Of Femoral Head	Short stepped shuffling gait, Hip osteoarthritis, Lower limb asymmetry, Limited hip movement, Abn...	ORPHA:86820
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta...	OMIM:602111
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Inclusion Body Myopathy And Brain White Matter Abnormalities	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:619733
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb...	ORPHA:79106
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Scoliosis, Lower limb asymmetry, Joint dislocation, Genu valgum, Me...	ORPHA:85198
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Thin metacarpal cortices, Decreased muscle mass, Recurrent fractures, Joint hyperm...	OMIM:616507
Thoracomelic Dysplasia	Flat face, Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Jo...	ORPHA:1803
Rhizomelic Chondrodysplasia Punctata, Type 1	Flat face, Rhizomelia, Flared metaphysis, Micrognathia, Epiphyseal stippling, Calcific stippling ...	OMIM:215100
Kyphomelic Dysplasia	Platyspondyly, Flat face, Limitation of joint mobility, Radial bowing, Flared metaphysis, Microme...	OMIM:211350
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Beukes Hip Dysplasia	Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi...	OMIM:142669
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Flat face, Joint disloc...	ORPHA:2097
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:271150
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho...	ORPHA:93307
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob...	ORPHA:93284
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Recurrent pneumonia, Failure to thrive, Micrognathia,...	OMIM:609465
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Arrhythmia, Everted lower lip vermilion, High palate, Anterior open-bite malocclusi...	OMIM:617877
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Flat face, Bowing of the legs, Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, E...	ORPHA:156728
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Joint di...	ORPHA:53
Kyphomelic Dysplasia	Flat face, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Joint...	ORPHA:1801
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy...	OMIM:608423
Multiple Epiphyseal Dysplasia Type 5	Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe...	ORPHA:93311
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movement, Flat acetabular...	ORPHA:94068
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Flat face, Patellar dislocation, Short toe, Knee dislocation, Genu valg...	OMIM:614078
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Osteopenia, Platyspondyly, Fractures of the long bones, Equinovarus deformi...	ORPHA:319195
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Flat face, Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, ...	OMIM:620269
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti...	ORPHA:83468
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Flat face, Abnormal vertebral morphology, ...	ORPHA:93346
Congenital Myasthenic Syndromes With Glycosylation Defect	Generalized weakness of limb muscles, Abnormal peripheral nervous system synaptic transmission, T...	ORPHA:353327
Rhizomelic Chondrodysplasia Punctata	Flat face, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobility, Epiphyseal st...	ORPHA:177
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Metaphyseal Chondrodysplasia, Spahr Type	Scoliosis, Abnormal epiphysis morphology, Reduced bone mineral density, Bowing of the long bones,...	ORPHA:2501
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:117000
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e...	OMIM:255800
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific...	OMIM:105835
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu...	OMIM:619598
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Ovoid...	OMIM:151210
Myopathy, Sarcoplasmic Body	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620286
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Short middle phalanx of ...	ORPHA:63442
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617760
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-...	OMIM:615424
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Dysplasia Epiphysealis Hemimelica	Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Joint stiff...	ORPHA:1822
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Myopathy, Centronuclear, 1	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl...	OMIM:160150
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Coxa valga, Hip dysplasia	OMIM:615612
Polyglucosan Body Myopathy 2	Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe...	OMIM:616199
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:254110
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Broad hallux, Short thumb, Premature osteoarthritis, Lumbar hyperlordosis, Os...	OMIM:165800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Clusters of axonal regeneration, Decreased number of p...	OMIM:607734
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	ORPHA:609
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O...	OMIM:307800
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Broad foot, Pes planus, Radial head subluxation, Round face, A...	OMIM:615777
Myasthenic Syndrome, Congenital, 13	Ptosis, Fatigable weakness, Muscle fiber tubular inclusions	OMIM:614750
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow...	OMIM:201000
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream...	OMIM:618655
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Congenital dia...	OMIM:618022
Congenital Myopathy 20	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:620310
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Premature osteoarthritis, Platyspondyly, Enlarged epiphyses	OMIM:184840
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Abnormal epiphysis morphology, Micromelia, Osteoarthritis	ORPHA:93283
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st...	ORPHA:1525
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Bone Dysplasia, Lethal Holmgren Type	Flat face, Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, ...	ORPHA:1842
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Low-set ears, Bell-shaped thorax, Death in childhood, Short neck...	OMIM:613320
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Facial para...	OMIM:166600
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Flat face, Platyspondyly, Hypoplastic iliac wing, Irregular femoral epiphys...	OMIM:614134
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Limitation of joint mobility, Brachydactyly, Osteoarthritis	ORPHA:2762
Spondylometaphyseal Dysplasia, X-Linked	Wide nasal bridge, Depressed nasal bridge, Platyspondyly, Short finger, Respiratory insufficiency...	OMIM:313420
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos...	ORPHA:93352
Myopathy, Distal, Tateyama Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ...	OMIM:614321
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation	OMIM:608236
Dysostosis Multiplex, Ain-Naz Type	Elongated femoral neck, Difficulty walking, Hypoplastic iliac wing, Wide humerus, Glenoid fossa h...	OMIM:619345
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty...	OMIM:616313
Dermatoosteolysis, Kirghizian Type	Keratitis, Abnormal diaphysis morphology, Abnormal foot morphology, Abnormality of the wrist, Abn...	ORPHA:1657
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ...	OMIM:601846
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot...	OMIM:214400
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Hyperconve...	OMIM:184255
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Flat face, Platyspondyly, Abnormal epiphysis morphology, Genu valgum, Micro...	ORPHA:250984
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal scler...	OMIM:609052
Ankylosing Vertebral Hyperostosis With Tylosis	Abnormal pelvis bone morphology, Obesity, Palmoplantar keratoderma, Osteoarthritis	ORPHA:2206
Rhabdomyolysis, Susceptibility To, 1	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:620235
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Flat face, Flared metaphysis, Decreased fibular diameter, Micrognathia...	OMIM:616897
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Rhizomelic Dysplasia, Patterson-Lowry Type	Flat face, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Large face, Ge...	ORPHA:2831
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618129
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Scoliosis, Skeletal muscle atrophy, Wide distal femoral metaphysis, Femoral bowing...	OMIM:614856
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Inclusion Body Myositis	Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg...	ORPHA:611
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Flat face, Genu valgum, Round face, Brachydactyly, Short phalanx of finger,...	OMIM:132450
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os...	OMIM:600561
Myopathy, Scapulohumeroperoneal	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:616852
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Hip osteoarthritis, Osteoarthritis, Flattened metatarsal heads, Flattened metacarp...	OMIM:271600
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor...	ORPHA:950
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am...	OMIM:158600
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Difficulty walkin...	OMIM:600081
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Emery-Nelson Syndrome	Flat face, Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morph...	ORPHA:1927
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flat face, Platyspondyly, Flared metaphysis, ...	OMIM:615349
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm...	OMIM:249710
Achondrogenesis Type 1A	Flat face, Micromelia, Abnormal enchondral ossification, Micrognathia, Multiple rib fractures, Ma...	ORPHA:93299
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ...	ORPHA:596
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Bowing of the long bones, Osteopenia, Tibia...	OMIM:613848
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Flat face, Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovarus d...	OMIM:224400
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Congenital hip dislocation, Failure to thrive, Type 1...	OMIM:255310
Achondrogenesis Type 1B	Flat face, Micromelia, Abnormal enchondral ossification, Macrocephaly, Micrognathia, Talipes equi...	ORPHA:93298
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Flat face, Thoracolumbar kyphosis, Failure to thrive, Sea-blue histiocytosis, Join...	OMIM:230600
Dysostosis, Stanescu Type	Flat face, Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Per...	ORPHA:1798
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Generalized hypotonia due to defect at the neuromuscular junction, Limb muscle weakness, Fatigabl...	OMIM:605809
Myasthenic Syndrome, Congenital, 6, Presynaptic	Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Ptosis, Ty...	OMIM:254210
Gombo Syndrome	Radial deviation of finger, Clinodactyly, Microcephaly, Brachydactyly, Microphthalmia	OMIM:233270
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Fatigabl...	OMIM:603034
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de...	OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ...	OMIM:118210
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Flat face, Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bone, Flexion ...	OMIM:619479
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction...	OMIM:601098
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Scoliosis, Abnormal anterior horn cell morphology, Retrognathia, Micrognathia, Fa...	OMIM:611890
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Brachydactyly, Short thumb, Osteoarthritis	ORPHA:435804
Nonaka Myopathy	Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower...	OMIM:605820
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Paraspinal muscle hypertrophy, Lumbar hyperlordosis, Knee flexion contracture, Hip contracture, S...	OMIM:602484
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os...	ORPHA:93356
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ...	OMIM:118200
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Small for gestational age, Decreased ca...	OMIM:616229
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Decreased body...	OMIM:271640
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m...	ORPHA:85435
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:618940
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:611705
Null Syndrome	Optic atrophy, CNS hypomyelination, Decreased nerve conduction velocity, Peripheral demyelination...	ORPHA:280234
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re...	OMIM:618848
Roussy-Levy Hereditary Areflexic Dystasia	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph...	OMIM:180800
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Recurre...	OMIM:215150
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Rimmed vacuoles, Shoulder girdle muscle atrophy, Abnormal pelvic girdle bone morphology, Pelvic g...	OMIM:167320
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg...	OMIM:222600
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy	DECIPHER:59
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Upper limb muscle weakness, Lower limb muscle weakness, Fatigable weakness, Hand muscle atrophy, ...	OMIM:601462
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys...	OMIM:617719
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Peripheral demyelination, Gliosis, EEG abnormality, Axona...	OMIM:221770
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno...	ORPHA:206594
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty...	OMIM:620246
Chronic Inflammatory Demyelinating Polyneuropathy	Abnormal nerve conduction velocity, Decreased nerve conduction velocity, Peripheral demyelination...	ORPHA:2932
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Flat face, Micromelia, Macrocephaly, Joint stiffness, J...	ORPHA:2655
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Myasthenic Syndrome, Congenital, 17	Ptosis, Type 1 muscle fiber predominance	OMIM:616304
Campomelic Dysplasia	Small abnormally formed scapulae, Flat face, Kyphosis, Tracheomalacia, Macrocephaly, 11 pairs of ...	ORPHA:140
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi...	OMIM:618823
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Flat face, Micromelia, Joint stiffness, Femoral bowing, Bowing o...	ORPHA:1860
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio...	OMIM:605253
Oculopharyngeal Muscular Dystrophy 1	Progressive ptosis, Limb muscle weakness, Ragged-red muscle fibers, Ptosis, Facial palsy	OMIM:164300
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,...	ORPHA:1988
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre...	OMIM:608673
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:620375
Achondrogenesis, Type Ib	Hypoplastic ilia, Flat face, Micromelia, Absent or minimally ossified vertebral bodies, Short ribs	OMIM:600972
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Flat face, Hypoplasia of the odontoid process, Kyphosis, Limited hip movement, Lum...	OMIM:183900
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Osteopenia, Thin metatarsal cortices, Thin metacarpal cortices, Hypoplasia of the musc...	ORPHA:2463
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance	OMIM:614807
Peroxisome Biogenesis Disorder 3A (Zellweger)	Flat face, Epiphyseal stippling, Wide anterior fontanel	OMIM:614859
Short Stature, Brussels Type	Delayed epiphyseal ossification, Microretrognathia, Calcification of cartilage, Abnormal facial s...	ORPHA:2867
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy	OMIM:618992
Muscular Dystrophy, Limb-Girdle, Type 1H	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C...	OMIM:613530
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Stickler Syndrome Type 1	Platyspondyly, Abnormal epiphysis morphology, Abnormal vertebral epiphysis morphology, Joint hype...	ORPHA:90653
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Squared-off pl...	OMIM:271530
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy...	OMIM:618728
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal irregularity, Metaphyseal cupping, Skeletal muscle atrophy, Contractures of the large...	OMIM:616716
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Vertebral wedging, Bowing of the arm, Biconcave vertebral bodies, Joint h...	OMIM:301014
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy...	ORPHA:75508
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Basal lamina onion bulb formation, Decreased motor nerve conduction velocity, Peripheral demyelin...	OMIM:614895
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Reduced bone miner...	ORPHA:2370
Richieri Costa-Da Silva Syndrome	Falls, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Decreas...	ORPHA:3101
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph...	OMIM:118220
Intellectual Developmental Disorder, Autosomal Dominant 59	Flat face, Brachydactyly, Macrocephaly, Facial hypotonia, Short foot, Short palm	OMIM:618522
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Flat face, Flared metaphysis, Broad long bones, Abnormal cartila...	ORPHA:2347
8P23.1 Microdeletion Syndrome	Low-set ears, Broad thumb, Micrognathia, Congenital diaphragmatic hernia, Short neck, High palate...	ORPHA:251071
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Optic...	ORPHA:401768
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Difficulty walkin...	OMIM:241530
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Bro...	OMIM:228520
Neuropathy, Hereditary, With Liability To Pressure Palsies	Segmental peripheral demyelination/remyelination, Froment sign, Decreased motor nerve conduction ...	OMIM:162500
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Al-Raqad Syndrome	Flat face, Sandal gap, Inability to walk, Gait ataxia, Joint hypermobility, Microcephaly, Brachyd...	OMIM:616459
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat face, High iliac wing, Coarse metaphyseal trabecularization, Scoliosis, Facial hyperostosis,...	ORPHA:2780
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Vertebral wedging, Anterior ra...	OMIM:610967
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Limb muscle weakness, Weakness of facial musculature, Ptosis, Type 2 muscle fiber atrophy, Decrea...	OMIM:608930
Myopathy, Distal, 5	Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m...	OMIM:617030
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Flat face, Recurrent otitis media, Polydactyly, Microcephaly, Hypopla...	OMIM:616910
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand	OMIM:619248
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Flat face, Microretrognathia, Limitation of joint mobility, Finge...	ORPHA:2994
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe...	OMIM:602080
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Di...	OMIM:300863
Fetal Trimethadione Syndrome	Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Tetralogy of Fallot, Intrauterin...	ORPHA:1913
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Achondroplasia	Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Femo...	OMIM:100800
Ververi-Brady Syndrome	Low-set ears, Broad nasal tip, Cupped ear, Bulbous nose, Intrauterine growth retardation, Promine...	OMIM:617982
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Flat face, Abnormal facial shape, Camptodactyly, Osteoporosis, Syndactyly	OMIM:616006
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Joint hypermobility, Hand polydac...	ORPHA:261243
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath...	ORPHA:1832
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ...	OMIM:181400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus...	OMIM:601954
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Micrognathia, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones, Talipes equinovaru...	OMIM:130070
Hypertrophic Neuropathy Of Dejerine-Sottas	Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ...	OMIM:145900
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me...	OMIM:609324
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,...	OMIM:609616
Hypochondroplasia	Flared metaphysis, Widened interpedicular distance, Lumbar hyperlordosis, Trident hand, Limited e...	OMIM:146000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Micrognathia, Congenital diaphragmatic hernia, Radioulnar synos...	OMIM:245600
Atelosteogenesis Type I	Platyspondyly, Rhizomelia, Joint dislocation, Absent or minimally ossified vertebral bodies, Micr...	ORPHA:1190
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617066
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Flat face, Anisospondyly, Limitation of joint mobility, Micromelia, Broad long ...	ORPHA:1865
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617072
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Kyphosis, Macrocephaly, Splenomegaly, Bowing of ...	ORPHA:61
Eng-Strom Syndrome	Scoliosis, Brachydactyly, Arthritis, Camptodactyly of finger	ORPHA:1937
Peroxisome Biogenesis Disorder 7A (Zellweger)	Talipes equinovarus, Epiphyseal stippling, Wide anterior fontanel, Flat face	OMIM:614872
Pde4D Haploinsufficiency Syndrome	Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Short metacarpal, Irre...	ORPHA:439822
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp...	ORPHA:2788
Trichorhinophalangeal Syndrome, Type I	Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Clinodactyly, Swelling of ...	OMIM:190350
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Hypermobility of interphalangeal joints, Hyperextensibility of the fing...	OMIM:613849
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Fatigable weakness, Ptosis, Proximal amyotrophy, Facial palsy	OMIM:610542
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa...	OMIM:619638
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ...	OMIM:147750
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S...	ORPHA:53697
Welander Distal Myopathy	Rimmed vacuoles, Distal amyotrophy	OMIM:604454
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Genu valgum, Micrognathia, Hip contracture, Pes planus, Round face, Flattened epiphysis, Advanced...	OMIM:618363
Benign Samaritan Congenital Myopathy	Centrally nucleated skeletal muscle fibers, Epicanthus, Internally nucleated skeletal muscle fibers	ORPHA:324581
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Short femoral neck, Decreased body weight, Brachydactyly, Reduced bone mineral density,...	OMIM:618392
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Flat face, Abnormal epiphysis...	ORPHA:1458
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Axonal regeneration, Decreased sensory nerve conduction velocity, Decreased motor nerve conductio...	OMIM:608323
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met...	ORPHA:2774
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Downslanted pal...	OMIM:619542
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac...	OMIM:184260
Weiss-Kruszka Syndrome	Low-set ears, Horizontal crus of helix, Hearing impairment, Cupped ear, Dextrotransposition of th...	OMIM:618619
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy...	OMIM:606483
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi...	OMIM:609115
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Micrognathia, Abnormal metaphysis morph...	ORPHA:93267
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacarpal osteolysis, Metatarsal ...	OMIM:166300
Mucopolysaccharidosis Type 7	Flat face, Anterior beaking of lower thoracic vertebrae, Hepatitis, Joint stiffness, Abnormal hip...	ORPHA:584
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Neonatal respiratory distress, Lumbar platyspondyly, Coarse metaphyseal t...	OMIM:618961
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Flat face, Abnormal femoral metaphysis morphol...	OMIM:200600
Mitochondrial Myopathy With Diabetes	Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am...	OMIM:500002
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu...	OMIM:264700
Congenital Absence Of Upper Arm And Forearm With Hand Present	Stillbirth, Abnormality of the vertebral column, Abnormal heart morphology, Abnormal hip bone mor...	ORPHA:294975
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ...	OMIM:607706
Diabetic Embryopathy	Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Mi...	ORPHA:1926
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Peripheral hypomy...	OMIM:611228
Spinal Muscular Atrophy, Infantile, James Type	Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty...	OMIM:619042
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Abnormal metacarpal morphology, Osteoarthritis	ORPHA:166100
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Flat face, Toe syndactyly, Narrow face, Short toe, Abnormal form ...	ORPHA:1327
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Limb m...	ORPHA:239
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Micrognathia, Generalized joint hypermobility, Cervical C2/C3 verte...	OMIM:618000
Pyle Disease	Platyspondyly, Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption o...	OMIM:265900
Cerebrooculofacioskeletal Syndrome 3	Micrognathia, Talipes equinovarus, Microcephaly, Microphthalmia, Rocker bottom foot, Arthrogrypos...	OMIM:616570
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Ptosis, Fac...	OMIM:300580
Thanatophoric Dysplasia Type 2	Platyspondyly, Flat face, Limitation of joint mobility, Micromelia, Joint hypermobility, Brachyda...	ORPHA:93274
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Broad femoral neck, Failure to thrive, Flexion contracture, Abnormal m...	ORPHA:157965
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers	OMIM:616209
Short Stature, Dauber-Argente Type	Osteopenia, Decreased fibular diameter, Arachnodactyly, Microcephaly, Long toe, Long fingers, Tri...	OMIM:619489
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Skeletal muscle atr...	ORPHA:970
Intellectual Disability And Myopathy Syndrome	Atopic dermatitis, Congenital hip dislocation, Flat face, Lumbar hyperlordosis, Limited elbow ext...	OMIM:619719
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con...	OMIM:608099
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:620402
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Acne, Abnormal vertebral morphology, Inflammation of the large intestine, Abnormal epiphysis morp...	ORPHA:324964
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu...	OMIM:277440
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo...	ORPHA:536471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Laron Syndrome	Short toe, Micrognathia, Abnormal facial shape, Brachydactyly, Osteoarthritis, Truncal obesity, A...	ORPHA:633
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Basal lamina onion bulb formation, De...	OMIM:601596
Chondrodysplasia Punctata 2, X-Linked Dominant	Flat face, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Hemiatrophy, St...	OMIM:302960
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Micrognathia, Hip contracture, Myopathy, Bowing of the long bones...	ORPHA:800
Bruck Syndrome	Platyspondyly, Scoliosis, Kyphosis, Pterygium, Joint stiffness, Bowing of the long bones, Talipes...	ORPHA:2771
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Wild Type Abeta2M Amyloidosis	Abnormality of the thenar eminence, Abnormal tendon morphology, Abnormal shoulder morphology, Art...	ORPHA:85446
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Toe syndactyly, Hearing impairment, Atresia of the external auditory canal...	OMIM:601808
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac...	ORPHA:3329
Craniofacial-Deafness-Hand Syndrome	Narrow face, Ulnar deviation of finger, Flat face, Camptodactyly of finger, Abnormality of the wr...	ORPHA:1529
Arthrogryposis, Distal, Type 2B2	Sandal gap, Broad hallux, Short toe, Clinodactyly, Talipes equinovalgus, Overlapping fingers, Uln...	OMIM:618435
Abruzzo-Erickson Syndrome	Flat face, Ulnar deviation of finger, Toe syndactyly, Short toe, Radioulnar synostosis, Brachydac...	ORPHA:921
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Lumbar hyperlordosis, Polya...	ORPHA:2848
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609311
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,...	ORPHA:171439
Maxillonasal Dysplasia	Short distal phalanx of finger, Flat face, Patchy distortion of vertebrae, Vertebral clefting, Ap...	ORPHA:1248
Mucolipidosis Type Iii	Acne, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphol...	ORPHA:577
Genitopalatocardiac Syndrome	Low-set ears, Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Double...	OMIM:231060
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Abnormal metatarsal morphology, Knee osteoarthritis, Synovitis, Oligoarthriti...	ORPHA:85408
Achondrogenesis	Flat face, Abnormal enchondral ossification, Micromelia, Micrognathia, Macrocephaly, Abnormality ...	ORPHA:932
Temtamy Syndrome	Short toe, Micrognathia, Joint hypermobility, Coarse facial features, Pes planus, Facial asymmetr...	ORPHA:1777
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri...	OMIM:612447
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bowing of the arm, Joint hypermobility, Wormian bones, Pes valgus, Pes planus, Cox...	OMIM:619131
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Ptosis, Scapular winging, Flexion contracture, Facial...	OMIM:255200
Odontochondrodysplasia	Platyspondyly, Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square p...	ORPHA:166272
Bcard Syndrome	Platyspondyly, Osteopenia, Flat face, Contracture of the proximal interphalangeal joint of the 2n...	OMIM:612394
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,...	OMIM:114290
Osseous Heteroplasia, Progressive	Ankylosis, Ectopic ossification in muscle tissue, Limb undergrowth	OMIM:166350
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short...	OMIM:601438
Osteogenesis Imperfecta	Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia, Dec...	ORPHA:666
22Q11.2 Duplication Syndrome	Interrupted aortic arch, Hypoplastic left heart, Depressed nasal ridge, Hearing impairment, Tetra...	ORPHA:1727
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Oculopharyngeal Muscular Dystrophy	Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ptosis, Abnormal muscle fiber morphology	ORPHA:270
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Slender finger, Anisospondyly, Hemiatrophy of upper limb, Thoracic kyphosis, Micro...	ORPHA:163649
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory insufficiency due to muscle weakness, Flexion contracture, Scol...	OMIM:300717
Congenital Myopathy With Myasthenic-Like Onset	Minicore myopathy, Failure to thrive, Type 1 muscle fiber predominance, Multiple joint contractur...	ORPHA:424107
Monosomy 18Q	Aortic valve stenosis, Bilateral conductive hearing impairment, Open mouth, Mitral regurgitation,...	ORPHA:1600
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Acromesomelic Dysplasia, Maroteaux Type	Depressed nasal bridge, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint...	ORPHA:40
Distal Myopathy, Welander Type	Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han...	ORPHA:603
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Rhizomelic Syndrome, Urbach Type	Limitation of joint mobility, Micrognathia, Short neck, Abnormality of the knee, Abnormality of t...	ORPHA:3098
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ...	ORPHA:440354
Larsen-Like Syndrome	Flat face, Joint dislocation, Recurrent otitis media, Macrocephaly, Radial deviation of the 4th f...	OMIM:608545
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ...	OMIM:605588
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea...	OMIM:164900
Vulto-Van Silfhout-De Vries Syndrome	2-3 toe cutaneous syndactyly, Flat face, Prominent fingertip pads, Joint hypermobility, Gait dist...	OMIM:615828
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotat...	ORPHA:1388
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Peripheral demyelination	ORPHA:99944
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,...	ORPHA:860
Proximal 16P11.2 Microduplication Syndrome	Flat face, Decreased body mass index, Failure to thrive, Congenital diaphragmatic hernia, Arachno...	ORPHA:370079
Moderate Multiminicore Disease With Hand Involvement	Knee dislocation, Type 1 muscle fiber predominance, Intrinsic hand muscle atrophy, Recurrent pate...	ORPHA:178145
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe...	OMIM:615422
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Lower l...	OMIM:619995
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Ap...	OMIM:108720
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Hip contracture, Talipes equinovarus, Flexion contracture of finge...	OMIM:193700
2Q24 Microdeletion Syndrome	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Failure to thrive, Ca...	ORPHA:1617
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Peripheral demyelination, Decreased compound muscle action potential amplitude, Onion bulb formation	OMIM:618279
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Low-set ears, Depressed nasal bridge, Clinodactyly, Bulbous nose, Open mouth, Patent foramen oval...	OMIM:616789
Myopathy, Myofibrillar, 8	Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract...	OMIM:617258
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ...	OMIM:601382
Wiedemann-Steiner Syndrome	Short 5th finger, Flat face, Small hand, Broad-based gait, Short toe, Failure to thrive, Recurren...	OMIM:605130
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Decreased motor ...	OMIM:620068
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Myopathy, Scapular winging, Flexion contracture, ...	OMIM:616471
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Lateral ventricle dilatation, Overlapping fingers, Micrognathia, Talipes equinova...	OMIM:618291
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ptosis, Facial palsy, Ragged-red muscle fibers	OMIM:609283
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ...	OMIM:616583
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre...	OMIM:609260
Heterotaxy, Visceral, 1, X-Linked	Low-set ears, Posteriorly placed anus, Ventricular septal defect, Left superior vena cava drainin...	OMIM:306955
Isolated Osteopoikilosis	Discoid lupus rash, Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mob...	ORPHA:166119
Stickler Syndrome, Type I	Abnormal femoral epiphysis morphology, Platyspondyly, Irregular femoral epiphysis, Micrognathia, ...	OMIM:108300
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Reduced muscle fiber alpha dystroglycan, Multiple joint contrac...	ORPHA:370968
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc...	ORPHA:457050
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral axonal neuropathy...	ORPHA:99953
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Onion bulb formation	OMIM:610100
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Dyssegmental Dysplasia, Silverman-Handmaker Type	Flat face, Anisospondyly, Micromelia, Pterygium, Micrognathia, Bowing of the long bones, Talipes ...	OMIM:224410
Ullrich Congenital Muscular Dystrophy	Slender finger, Kyphosis, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fin...	ORPHA:75840
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Pectus carinatum, Low-set ears, Aortic root aneurysm, Secundum atrial septal de...	OMIM:619910
Methionine Adenosyltransferase I/Iii Deficiency	Peripheral demyelination, CNS demyelination	OMIM:250850
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Micrognathia, Dysmetria, Finger joint contracture, Microphthalmia, Osteoporosis, Acute rh...	ORPHA:48431
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo...	ORPHA:1952
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Flat face, Clinodactyly, Recurrent otitis media, Micrognathia, Single transverse palmar crease, B...	OMIM:613604
Osteogenesis Imperfecta, Type Iii	Thin ribs, Kyphosis, Slender long bone, Micrognathia, Recurrent fractures, Bowing of limbs due to...	OMIM:259420
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Irregular capital femoral epiphysis, ...	OMIM:184252
Legg-Calvé-Perthes Disease	Joint dislocation, Cartilage destruction	ORPHA:2380
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Recurrent pneumonia, Sandal gap, Short tibia, Failure to thrive, Butterfly vertebrae,...	OMIM:607143
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy...	OMIM:255160
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation	OMIM:311070
Pfeiffer Syndrome	Flat face, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Facial asymmetry, Brachyda...	ORPHA:710
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Thoracic kyphosis, Interver...	OMIM:609223
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Generalized morning stiffness, Constrictive pericarditi...	OMIM:208250
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Joint...	ORPHA:969
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Flat face, Eczematoid dermatitis, Patellar hypoplasia, Obesity, Microcephaly, Abnormal facial sha...	ORPHA:464288
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Undulate ribs, Splenic c...	OMIM:618188
Primary Ciliary Dyskinesia	Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Chronic otitis media, Clubbin...	ORPHA:244
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal mitral valve mo...	ORPHA:1277
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Small hand, Osteopenia, Broad femoral neck, Flat face, Distal sho...	ORPHA:488434
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Optic nerve hypoplasia, Failure t...	OMIM:222765
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Gliosis, Degeneration of anterior horn cells, Decreased number of peripheral...	OMIM:604484
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Talipes...	ORPHA:1900
Charcot-Marie-Tooth Disease, Type 4B2	Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Onio...	OMIM:604563
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Congenital diaphragmatic herni...	OMIM:312870
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Abnormal form of the ve...	ORPHA:1426
Lower Motor Neuron Syndrome With Late-Adult Onset	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs...	ORPHA:276435
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle...	OMIM:619477
Ollier Disease	Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato...	ORPHA:296
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration	OMIM:607791
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba...	OMIM:156550
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge...	OMIM:617974
Distal Arthrogryposis Type 1	Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin...	ORPHA:1146
Alpha-Mannosidosis, Infantile Form	Hepatosplenomegaly, Genu valgum, Pancytopenia, Myopathy, Ataxia, Bilateral coxa valga, Bilateral ...	ORPHA:309282
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Orofaciodigital Syndrome Xv	Flat face, Duplication of phalanx of hallux, Broad hallux, Postaxial hand polydactyly	OMIM:617127
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Axonal regeneration, Peripheral demyelination, Onion bulb formation	OMIM:615185
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end...	OMIM:619473
Robinow-Sorauf Syndrome	Flat face, Broad thumb, Broad hallux, Duplication of the distal phalanx of the hallux, Hallux val...	OMIM:180750
Achondrogenesis Type 2	Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossificati...	ORPHA:93296
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination	OMIM:249900
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Limited mobility of proximal interphalangeal joint,...	ORPHA:85438
Chime Syndrome	Abnormality of the outer ear, Hearing impairment, Ventricular septal defect, Short foot, Hip disl...	ORPHA:3474
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ...	OMIM:248800
Shox-Related Short Stature	Obesity, Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb unde...	ORPHA:314795
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Ovoid vertebral bodies, Round face, Sho...	OMIM:102370
Arthrogryposis, Distal, Type 2B3	Overlapping fingers, Talipes equinovarus, Hallux valgus, Adducted thumb, Ulnar deviation of the h...	OMIM:618436
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o...	ORPHA:73230
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Ptosis, Prolonged miniature endplate currents, Decreased miniature endplate potentials	OMIM:616321
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ...	ORPHA:34516
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li...	OMIM:252500
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Relative macrocephaly, Hypoplasia of the femoral head, Ovo...	OMIM:617396
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia, Myelofibrosis...	OMIM:231095
Congenital Myopathy 6 With Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac...	OMIM:605637
ERI1-related disease	Low-set ears, Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Patellar dis...	OMIM:608739
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Flat face, Radial deviation of the hand, Short tibia, Short toe, Preaxi...	ORPHA:2756
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect...	OMIM:314390
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa...	ORPHA:1856
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300554
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle...	ORPHA:163665
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Flat face, Rieger anomaly, Macrocephaly, Absent extraocular muscles, Hip dislocation, Coxa valga	OMIM:109120
Brachyolmia Type 1, Toledo Type	Lumbar hyperlordosis, Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscol...	OMIM:271630
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Flat face, Joint hypermobility, Cervical C2/C3 vertebral fusion, Talipes equinovarus, Microcephal...	OMIM:617333
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planus, Thoracolumb...	ORPHA:457395
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi...	OMIM:618654
Hyperekplexia 4	Umbilical hernia, Kyphoscoliosis, Talipes equinovarus, Distal arthrogryposis, Adducted thumb, Cam...	OMIM:618011
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia, Onion bulb formation, Decreased numbe...	OMIM:618184
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ...	OMIM:156510
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Ventric...	OMIM:620663
Inclusion Body Myositis	Rimmed vacuoles, Inflammatory myopathy	OMIM:147421
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Low-set, posteriorly rotate...	ORPHA:2635
Chromosome 6Q24-Q25 Deletion Syndrome	Low-set ears, Small hand, Lateral ventricle dilatation, Mitral valve prolapse, Agenesis of corpus...	OMIM:612863
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Abnor...	OMIM:614399
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Decreased moto...	OMIM:605285
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Low-set ears, Aplasia/Hypoplasia of the earlobes, Hypoplastic iliac wing, Sensorineural hearing i...	ORPHA:2637
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis, Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Low-set ears...	OMIM:220220
Craniometaphyseal Dysplasia, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys...	OMIM:123000
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Genu varum...	ORPHA:289157
Warburg Micro Syndrome 1	Failure to thrive, Overlapping toe, Micrognathia, Joint hypermobility, Kyphoscoliosis, Microcepha...	OMIM:600118
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri...	OMIM:300696
Distal Monosomy 7Q36	Flat face, Large face, Micrognathia, Bilateral single transverse palmar creases, Microcephaly, Cl...	ORPHA:1636
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Depressed nasal bridge, Stillbirth, Micromelia, Flared metaphysis,...	OMIM:215045
Cardiac Diverticulum	Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept...	ORPHA:1686
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Flat face, Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Failure to thrive, ...	OMIM:620494
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Respiratory insufficie...	OMIM:135100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Broad thumb, Overlapping toe, Micrognathia, Sensorineural hearing impairment, Bicus...	OMIM:612474
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Malar flattening, Clinodactyly of the...	ORPHA:217340
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Ptosis, Scapul...	OMIM:617069
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm...	ORPHA:628
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth,...	OMIM:253010
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Mesomel...	ORPHA:1354
Recombinant Chromosome 8 Syndrome	Low-set ears, Joint contracture of the hand, Hearing impairment, Micrognathia, Ventricular septal...	OMIM:179613
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Lower limb asymmetry, Diastasis recti, Polydactyly, Decreased body weight, Delayed closure of the...	ORPHA:231140
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Small hand, Hypoplasia of the odontoid process, Narrow nasal bridge, Malar flatten...	ORPHA:85172
Blepharophimosis-Impaired Intellectual Development Syndrome	Short distal phalanx of finger, Recurrent pneumonia, Flat face, Joint hypermobility, Talipes equi...	OMIM:619293
Tarp Syndrome	Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Atrial septal defe...	OMIM:311900
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Clinodactyly, Hypo...	OMIM:614813
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Widely patent f...	OMIM:241500
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Failure to thrive, Joint swelling, Splenomegaly, Lipogran...	OMIM:228000
Mucolipidosis Type Ii	Limitation of joint mobility, Hepatosplenomegaly, Hip contracture, Talipes equinovarus, Weight lo...	ORPHA:576
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Failure t...	OMIM:619518
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dis...	OMIM:620662
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:2631
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Anteverted nares, ...	OMIM:616809
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Optic atrophy, Respirato...	ORPHA:1914
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Inability to walk, Failure to thrive in infancy, Hip contracture, Microcephaly, Cache...	OMIM:616801
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma...	ORPHA:485
Aneurysm-Osteoarthritis Syndrome	Abdominal aortic aneurysm, Mitral regurgitation, Intervertebral disk degeneration, Arachnodactyly...	ORPHA:284984
Cerebrooculofacioskeletal Syndrome 4	Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Failure...	OMIM:610758
Three M Syndrome 3	Slender long bone, Increased vertebral height, Joint hypermobility, Decreased body weight, Microc...	OMIM:614205
Acrocephalopolydactyly	Genu recurvatum, Depressed nasal ridge, Short neck, Limb undergrowth, Brachydactyly, Short long b...	ORPHA:221054
Krabbe Disease	Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination, ...	OMIM:245200
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyp...	ORPHA:89936
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h...	OMIM:602471
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Deep longitudinal plantar crease, Recurrent pneumonia, Failure to ...	OMIM:214150
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607677
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Hearing impairment, Ge...	OMIM:253000
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature	OMIM:615959
Nemaline Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline...	OMIM:256030
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, ...	OMIM:612350
Blepharocheilodontic Syndrome 2	Flat face, Facial asymmetry, Cutaneous syndactyly	OMIM:617681
Chromosome 5Q12 Deletion Syndrome	Flat face, Decreased body mass index, Micrognathia, Long toe, Coarse facial features, Long finger...	OMIM:615668
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607731
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot, Short nose	OMIM:300577
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Decreased skull ossification, Round face, Multiple prenatal fractures, ...	OMIM:610915
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat face, Failure to thrive, Ulnar deviation of the hand or of fingers of the hand, Macrocephaly...	OMIM:214100
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Relative macrocephaly, Short first metatarsal, Epiphyseal stippling, Microg...	OMIM:619135
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Genu valgum, Facial diplegia, Fo...	ORPHA:171436
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent...	OMIM:620294
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Stillbirth, Umbilical hernia, Malar flattening, Short ribs, ...	OMIM:269250
Achondroplasia	Flat acetabular roof, Cervical spinal canal stenosis, Limited elbow extension, Knee joint hypermo...	ORPHA:15
Nail-Patella Syndrome	Equinovarus deformity, Decreased muscle mass, Abnormal tibia morphology, Talipes calcaneovalgus, ...	ORPHA:2614
Cantu Syndrome	Thick upper lip vermilion, Broad first metatarsal, Bicuspid aortic valve, Hypoplastic ischiopubic...	OMIM:239850
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Incre...	ORPHA:77297
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Deep plantar creases, Failure to thrive, Broad...	OMIM:602342
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Prominent nasal tip, Atri...	OMIM:618870
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Hearing impairment, Micrognathia, Myopathy, Sensorineural hearing impairment, Arach...	ORPHA:536545
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn...	OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253601
Holt-Oram Syndrome	Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca...	ORPHA:392
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi...	ORPHA:169186
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Low-set ears, Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Retr...	OMIM:300845
Hall-Riggs Syndrome	Platyspondyly, Depressed nasal bridge, Prominent nose, Hypoplasia of the primary teeth, Anteverte...	OMIM:234250
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul...	OMIM:608340
Robinow Syndrome	Flared nostrils, Low-set ears, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in er...	ORPHA:97360
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Frank-Ter Haar Syndrome	Low-set ears, Delayed cranial suture closure, Micrognathia, Mitral valve prolapse, Ventricular se...	OMIM:249420
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyse...	OMIM:250420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Inability to walk, Microcephaly, Left ventricular hypertrophy, Hyperlordosis,...	OMIM:613156
Roifman-Chitayat Syndrome	Pneumonia, Osteopenia, Cone-shaped epiphysis, Abnormal facial shape, Arthritis, Short metatarsal,...	OMIM:613328
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Ventricular septal defect...	OMIM:280000
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Abnormality of the dentition, Finger syndactyly, Radioulnar synostosis, Abnorma...	ORPHA:3268
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Abnormal vertebral morphology, Anteverted nares, Micrognathia, Short neck, Short nose	ORPHA:2015
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal spleen morphology, Abnormal pelv...	ORPHA:464329
Cardiomyopathy, Dilated, 1B	Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im...	OMIM:600884
9Q31.1Q31.3 Microdeletion Syndrome	Flat face, Small hand, Cervical kyphosis, Short clavicles, Abnormal facial shape, Overweight, Tap...	ORPHA:401923
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Gaucher Disease Type 1	Splenic infarction, Osteopenia, Erlenmeyer flask deformity of the femurs, Pathologic fracture, He...	ORPHA:77259
Intellectual Developmental Disorder, X-Linked 30	Flat face, Microcephaly, Prominent fingertip pads	OMIM:300558
Kagami-Ogata Syndrome	Thin ribs, Micrognathia, Bell-shaped thorax, Ventricular septal defect, Atrial septal defect, Hep...	OMIM:608149
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi...	OMIM:150250
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Recurrent otitis media, Microphthalmia, Hypoplastic inferior ilia, Short metacarpal, Ovoid verteb...	OMIM:608940
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Stuve-Wiedemann Syndrome 2	Eczematoid dermatitis, Bowing of the long bones, Thrombocytopenia, Short long bone, Camptodactyly...	OMIM:619751
Distal Duplication 5Q	Flat face, Absent thumb, Eczematoid dermatitis, Micrognathia, Microcephaly, Hypoplasia of the uln...	ORPHA:96097
Arterial Tortuosity Syndrome	Aortic root aneurysm, Esophagitis, Arachnodactyly, Hip dislocation, Short nose, Macrotia, Hypertr...	ORPHA:3342
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Abnormality of the plantar skin of foot, Exces...	ORPHA:487825
Isolated Agammaglobulinemia	Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Otitis media, Skin rash, Clinodacty...	ORPHA:229717
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ...	ORPHA:101097
Fanconi Anemia, Complementation Group G	Microphthalmia, Abnormal thumb morphology, Microcephaly, Anemia, Neutropenia, Thrombocytopenia, L...	OMIM:614082
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Clinodactyly, Elbow flexion contracture, Micrognathia, Single transverse...	OMIM:616200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:613954
Merrf	Optic atrophy, Ragged-red muscle fibers, Myopathy	ORPHA:551
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ...	OMIM:619790
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Polyarticular arthri...	ORPHA:289176
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ...	OMIM:620542
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat...	OMIM:155050
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe...	OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt...	OMIM:608807
Carpenter Syndrome 2	Low-set ears, Broad thumb, Carious teeth, Narrow naris, Cutaneous finger syndactyly, Sensorineura...	OMIM:614976
Osteogenesis Imperfecta, Type Ii	Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Small for gestational age, Broa...	OMIM:166210
Zellweger Syndrome	Flat face, Failure to thrive, Micrognathia, Epiphyseal stippling, Microcephaly, Macrocephaly, Wid...	ORPHA:912
Sandhoff Disease, Adult Form	Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness	ORPHA:309169
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Death in childhood, Joint contracture, Respiratory insufficiency	OMIM:616081
Melnick-Needles Syndrome	Craniofacial hyperostosis, Tooth malposition, Hearing impairment, Delayed cranial suture closure,...	ORPHA:2484
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ...	OMIM:600882
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Slender long bone, Limitation of joint mobility, Abnormal form of the ve...	ORPHA:1486
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Stippling of the epiphyses of the distal phalanges of the hand, S...	ORPHA:79345
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Scoliosis, Amelia, Short femur	OMIM:601357
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	EEG with generalized slow activity, Decreased number of peripheral myelinated nerve fibers	ORPHA:2386
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas...	ORPHA:175
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Scoliosis, Short iliac bones, Ab...	ORPHA:93316
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Flat face, Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Microcepha...	OMIM:614701
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Round face, Shor...	OMIM:611717
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Obesi...	OMIM:618395
Neu-Laxova Syndrome 1	Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic...	OMIM:256520
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p...	OMIM:160500
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Three M Syndrome 1	Short 5th finger, Small for gestational age, Joint dislocation, Slender long bone, Hypoplastic pe...	OMIM:273750
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Failure to thrive, Micrognathia, Talipes equinovarus, Microcephaly, Br...	OMIM:612626
3M Syndrome	Thin ribs, Congenital hip dislocation, Rocker bottom foot, Scoliosis, Slender long bone, Micromel...	ORPHA:2616
Tetrasomy 5P	Flat face, Failure to thrive, Overlapping toe, Micrognathia, Talipes equinovarus, Coarse facial f...	ORPHA:3309
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt...	OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	OMIM:616924
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Unfavorable response of muscle weakness to acetylcholine esterase inhibi...	ORPHA:98915
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve conduction ve...	OMIM:615368
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Arachnodactyly, Bicuspid aortic valve, Carotid a...	ORPHA:91387
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Scoliosis, K...	OMIM:112350
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Genu valgum, Delayed ...	OMIM:184250
Contractural Arachnodactyly, Congenital	Crumpled ear, Aortic root aneurysm, Micrognathia, Mitral regurgitation, Hip contracture, Mitral v...	OMIM:121050
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar...	ORPHA:3287
Adult-Onset Nemaline Myopathy	Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	ORPHA:171442
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Abnormal form of the vertebral bodies, Aplasia/Hypop...	ORPHA:1597
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Optic atrophy, Joint hypermobility, Wormian bones, Brachydactyly,...	ORPHA:2787
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs	ORPHA:1878
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Death...	OMIM:618845
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral demyelination, Axonal degeneration, Periphe...	OMIM:604168
Osteogenesis Imperfecta, Type Vi	Bowing of the arm, Increased susceptibility to fractures, Biconcave vertebral bodies, Joint hyper...	OMIM:613982
Multiple Osteochondromas	Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,...	ORPHA:321
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Short Stature-Micrognathia Syndrome	Ataxia, Rhizomelia, Broad femoral neck, Failure to thrive, Skeletal muscle hypertrophy, Micrognat...	OMIM:617164
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Slc39A8-Cdg	Osteopenia, Flat face, Cutaneous syndactyly of toes, Elbow flexion contracture, Inability to walk...	ORPHA:468699
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic...	OMIM:617087
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy	OMIM:609500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Coxopodopatellar Syndrome	Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ...	ORPHA:1509
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300009
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Difficulty walking, Pes cavus, Pugilis...	OMIM:300280
Ck Syndrome	Dental crowding, Retrognathia, Micrognathia, Abnormal cortical bone morphology, Prominent nasal b...	OMIM:300831
Mucopolysaccharidosis Type 4	Carious teeth, Hearing impairment, Genu valgum, Bowing of the long bones, Short neck, Pectus cari...	ORPHA:582
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,...	ORPHA:968
Camurati-Engelmann Disease	Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Pe...	ORPHA:1328
Zebra Body Myopathy	Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo...	ORPHA:97240
Nicolaides-Baraitser Syndrome	Clubbing of toes, Broad distal phalanx of finger, Abnormal epiphysis morphology, Sandal gap, Join...	ORPHA:3051
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Periventricular Nodular Heterotopia 1	Clinodactyly, Short finger, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus art...	OMIM:300049
Pseudodiastrophic Dysplasia	Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Anteverted nare...	OMIM:264180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Spinal rigidity, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Encephaloce...	OMIM:253800
Ceroid Lipofuscinosis, Neuronal, 10	Wide nasal bridge, Respiratory insufficiency, Neonatal death, Split hand, Premature closure of fo...	OMIM:610127
Gm1 Gangliosidosis	Low-set ears, Cherry red spot of the macula, Hepatosplenomegaly, Narrow mouth, Ventricular septal...	ORPHA:354
3P25.3 Microdeletion Syndrome	Abnormality of the outer ear, Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defe...	ORPHA:435638
Larsen-Like Syndrome, Lethal Type	Multiple joint dislocation, Joint dislocation, Tracheomalacia, Respiratory insufficiency, Neonata...	OMIM:245650
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Rhizomelia, Micromelia, Elbow dislocation, Pterygium, Short nose, Antever...	ORPHA:93329
Cutis Laxa, Autosomal Recessive, Type Iib	Congenital hip dislocation, Osteopenia, Failure to thrive, Decreased muscle mass, Joint hypermobi...	OMIM:612940
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon...	ORPHA:93357
Alagille Syndrome	Short distal phalanx of finger, Flat face, Failure to thrive, Abnormal form of the vertebral bodi...	ORPHA:52
Garg-Mishra Progeroid Syndrome	Thin ribs, Platyspondyly, Slender long bone, Persistent open anterior fontanelle, Slender metacar...	OMIM:620601
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowing of the l...	ORPHA:3035
Noonan Syndrome With Multiple Lentigines	Abnormal mitral valve morphology, Mitral valve prolapse, Sensorineural hearing impairment, Arrhyt...	ORPHA:500
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Humerus varus, Genu valgum, E...	ORPHA:198
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Respiratory ins...	OMIM:276950
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Axonal degeneration/regeneration	OMIM:607736
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Joint dislocation, Abnormal form of the vertebral bodies, O...	ORPHA:93160
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Calf muscle hypertrophy	OMIM:611615
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Firm muscles, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Kyphoscoliosis, Skelet...	OMIM:255710
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Cutis Laxa, Autosomal Recessive, Type Iia	Flat face, Congenital hip dislocation, Failure to thrive, Joint hypermobility, Microcephaly, Pes ...	OMIM:219200
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Ptosis, Type 2 muscle fiber a...	OMIM:608931
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Arthrogryposis multiplex congenita, Internally rotated shoulders, Recurrent otitis ...	OMIM:619503
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Genu valgum, Microgn...	ORPHA:2496
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Osteopenia, Failure to thrive, Slender build, Genu valgu...	OMIM:608154
Greenberg Dysplasia	Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen...	OMIM:215140
Silver-Russell Syndrome Due To 11P15 Microduplication	Failure to thrive, Facial asymmetry, Clinodactyly of the 5th finger, Relative macrocephaly, Trian...	ORPHA:231144
Laron Syndrome	Small face, Limb undergrowth, Short long bone, Abnormal joint morphology	OMIM:262500
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Multiminicore Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w...	ORPHA:598
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Osteogenesis Imperfecta, Type Xi	Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,...	OMIM:610968
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis	ORPHA:97332
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat...	ORPHA:363705
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C...	OMIM:113000
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Pachydermoperiostosis	Small hand, Clubbing of toes, Abnormal epiphysis morphology, Palmoplantar keratoderma, Limitation...	ORPHA:2796
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:615376
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Failure to thrive, Aniridia, Decreased skull oss...	OMIM:602361
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner...	ORPHA:1508
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Clinodactyly, Lateral ventricle dilatation, Micrognat...	ORPHA:96148
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Bowing of the long bones, Microphthalmia, Short metacarpal, Ovoid vertebral bodi...	ORPHA:85167
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m...	ORPHA:740
Thakker-Donnai Syndrome	Downturned corners of mouth, Tetralogy of Fallot, Bulbous nose, Intrauterine growth retardation, ...	ORPHA:1780
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Mmep Syndrome	Microcephaly, Triphalangeal thumb, Split foot, Microphthalmia	ORPHA:3434
Mitochondrial Myopathy, Infantile, Transient	Failure to thrive, Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle...	OMIM:500009
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Peripheral demyelination	OMIM:616684
Cofs Syndrome	Camptodactyly of finger, Joint stiffness, Micrognathia, Talipes, Microcephaly, Microphthalmia, Ar...	ORPHA:1466
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Large fleshy ears, Micrognathia, Congenital diaphragmatic hernia, Decreased skull o...	OMIM:263210
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Joubert Syndrome 14	Low-set ears, Prominent nasal bridge, Open mouth, Encephalocele, Malar flattening, Ventricular se...	OMIM:614424
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Decreased compound muscle a...	OMIM:603511
Aneurysm Of Interventricular Septum	Vascular dilatation, Abnormal ventricular septum morphology	OMIM:105805
Oculodentodigital Dysplasia	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia,...	ORPHA:2710
Aneurysm, Intracranial Berry, 12	Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar...	OMIM:618734
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Joint hypermobility, Microcephaly, Macrocephaly, Unsteady gait, Short femur	OMIM:617798
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Flared nostrils, Low-set ears, Dilated cardiomyopathy, Retrognathia, Long philtrum, Moyamoya phen...	ORPHA:280679
Finnish Upper Limb-Onset Distal Myopathy	Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in...	ORPHA:399086
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Lower limb asymmetry, Secondary microcephaly, Facial asymmetry, Clinodactyly of the 5th finger, T...	ORPHA:231147
Conotruncal Heart Malformations	Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ...	OMIM:217095
Stickler Syndrome	Slender build, Genu valgum, Micrognathia, Arachnodactyly, Cachexia, Chronic otitis media, Hip dis...	ORPHA:828
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Broad foot, Anterior rib cupping, Ataxia, Flattene...	OMIM:300232
Dysosteosclerosis	Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Round fac...	OMIM:224300
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Emanuel Syndrome	Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Co...	OMIM:609029
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Kyphosis, Bowing of limbs due to multiple fractures, De...	OMIM:259440
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253700
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Depressed nasal bridge, Low-set ears, Tetralogy of...	OMIM:220210
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Failure to thrive in infancy, Increased variability in muscle fiber diameter, Increased intramyoc...	OMIM:619065
3C Syndrome	Aortic valve stenosis, Low-set ears, Finger syndactyly, Micrognathia, Abnormal mitral valve morph...	ORPHA:7
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Wide nasal bridge, Bifid uvula, Hearing impairment, Cleft upper lip, Bulbous nose, Anteverted nar...	OMIM:300958
Ehlers-Danlos Syndrome, Hypermobility Type	Loss of ambulation, Joint dislocation, Osteoarthritis, Joint hypermobility	OMIM:130020
Melorheostosis	Lower limb asymmetry, Skeletal muscle atrophy, Failure to thrive, Joint stiffness, Ectopic ossifi...	ORPHA:2485
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Ptosis, Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis	OMIM:617070
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Pes planus, Brachydactyly, Short me...	OMIM:600705
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Recurrent otitis media, Overlapping toe, Micrognathia, Talipes equinovarus, Pes planus, Beaking o...	OMIM:213980
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala...	OMIM:271700
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ...	OMIM:600334
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Small hand, Shallow acetabular fossae, Lateral ventricle dilatation, Micrognathia, ...	OMIM:611209
Blepharocheilodontic Syndrome 1	Flat face, Cutaneous syndactyly, Clinodactyly	OMIM:119580
Emanuel Syndrome	Aortic valve stenosis, Low-set ears, Tooth malposition, Hearing impairment, Recurrent otitis medi...	ORPHA:96170
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Xylt1-Cdg	Acne, Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermob...	ORPHA:370930
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Decreased motor nerve conduction velocity, Retrognathia, Respiratory insufficienc...	OMIM:618186
Hyperostosis Corticalis Generalisata	Abnormal clavicle morphology, Cranial hyperostosis, Abnormal cortical bone morphology, Sensorineu...	ORPHA:3416
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Hearing impairment, Macrotia, Hypertrophic cardiomyopathy, Low-set, posteriorly ro...	ORPHA:2701
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy	ORPHA:238329
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Clinodactyly, Anteverted nares, Micrognathia, Unilambdoid synostosis, Hydrocep...	OMIM:618577
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ...	OMIM:615297
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad thumb, Skeletal muscle atrophy, Broad hallux, Failure to thrive, Difficulty walking, Inabil...	ORPHA:481152
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Pes cavus, Joint hypermobility, Distal lower limb muscle weakness, Pes planus, Small thenar emine...	OMIM:620080
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Hearing impairment, Elbow dislocation, Genu valgu...	OMIM:143095
Arthrogryposis Multiplex Congenita 6	Large fontanelles, Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Arthrogr...	OMIM:619334
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat...	OMIM:613795
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Vertebral wedging, Micrognathia, ...	OMIM:617866
Progressive Non-Infectious Anterior Vertebral Fusion	Flat face, Kyphosis, Joint stiffness, Micrognathia, Abnormal facial shape, Round face, Large hand...	ORPHA:2062
Peroxisome Biogenesis Disorder 3B	Flat face, Failure to thrive, Single transverse palmar crease, Abnormal facial shape, Ataxia, Ost...	OMIM:266510
Nemaline Myopathy 5C, Autosomal Dominant	Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,...	OMIM:620389
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Preaxial hand polydactyly...	ORPHA:1120
Kleefstra Syndrome 1	Flat face, Obesity, Single transverse palmar crease, Talipes equinovarus, Coarse facial features,...	OMIM:610253
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Flared metaphysis, Femoral bow...	OMIM:187600
Anauxetic Dysplasia 1	Aortic valve stenosis, Atlantoaxial dislocation, Hip contracture, Barrel-shaped chest, Short neck...	OMIM:607095
Restrictive Dermopathy	Thin ribs, Low-set ears, Natal tooth, Increased anterioposterior diameter of thorax, Large placen...	ORPHA:1662
Mucopolysaccharidosis, Type Ix	Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti...	OMIM:601492
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Low-set ears, Asplenia, Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malr...	OMIM:619657
Congenital Myopathy 23	Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Nemaline Myopathy 8	Flexion contracture, Facial palsy, Respiratory failure, Death in infancy	OMIM:615348
Rhizomelic Syndrome	Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Pulmonic stenosis, Hip dislocation, ...	OMIM:268250
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth...	ORPHA:166277
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Intestinal perforation, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage...	ORPHA:464321
Loeys-Dietz Syndrome 5	Bilateral coxa valga, Decreased muscle mass, Failure to thrive in infancy, Broad face, Joint hype...	OMIM:615582
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula...	ORPHA:171445
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido...	ORPHA:98905
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f...	ORPHA:2632
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Charcot-Marie-Tooth Disease Type 2B1	Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens...	ORPHA:98856
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu...	OMIM:254090
Cole-Carpenter Syndrome 2	Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Microretrognathia, Coronal craniosynostosis, ...	OMIM:616294
Multiple Sulfatase Deficiency	Flat face, Broad thumb, Broad hallux, Splenomegaly, Hypoplastic vertebral bodies, Coarse facial f...	OMIM:272200
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Kyphosis, Failure to thrive, Recurrent fractures, Short humerus, Lateral femoral bowi...	OMIM:239000
Short-Rib Thoracic Dysplasia 12	Flat face, Hypoplastic scapulae, Short toe, Short finger, Macrocephaly, Bowing of the arm, Horizo...	OMIM:269860
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v...	OMIM:607684
Pseudodiastrophic Dysplasia	Platyspondyly, Rhizomelia, Elbow dislocation, Malar flattening, Talipes equinovarus, Phalangeal d...	ORPHA:85174
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Lateral ventricle dilatation, Talipes equinovarus, Everted lower l...	OMIM:620371
Pseudoxanthoma Elasticum	Restrictive cardiomyopathy, Mitral valve prolapse, High palate, Gastrointestinal hemorrhage, Athe...	ORPHA:758
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Arthrogryposis multiplex congenita, Scoliosis, Camptodactyly of finger, Ulnar...	OMIM:601680
Smith-Magenis Syndrome	Wide nasal bridge, Abnormality of the outer ear, Abnormality of the dentition, Hearing impairment...	OMIM:182290
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Slender long bone, Limitation of joint mobility, Hypoplastic pelvis, Gai...	ORPHA:2840
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atlantoaxial dislocation, Carious teeth, Aortic root aneurysm, Dysplasia of the fem...	ORPHA:536467
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Cone-shaped epiphysis, Delayed cranial suture closure, Abnormality of the wrist, Narrow nasal bri...	ORPHA:2511
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, 2-...	OMIM:206920
Miyoshi Muscular Dystrophy 1	Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim...	OMIM:254130
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Arthrogryposis, Distal, Type 5	Firm muscles, Clinodactyly, Decreased muscle mass, Arachnodactyly, Limited wrist extension, Dista...	OMIM:108145
Partington Syndrome	Camptodactyly, Flexion contracture, Triangular face	OMIM:309510
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Failure to thrive, Ragge...	ORPHA:17
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Toe syndactyly, Umbilical hernia, Anteverted nares, Micrognathia, Large f...	ORPHA:171839
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Axonal loss, Segmental ...	OMIM:601455
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Low-set ears, Joint contracture of the hand, Genu valgum, Micrognathia, Mitral valve p...	OMIM:182212
Atelosteogenesis, Type Iii	Tombstone-shaped proximal phalanges, Rhizomelia, Cervical kyphosis, Radial bowing, Sandal gap, Kn...	OMIM:108721
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys...	OMIM:210720
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec...	OMIM:602557
Lateral Meningocele Syndrome	Low-set ears, Decreased muscle mass, Micrognathia, Ventricular septal defect, Bicuspid aortic val...	OMIM:130720
Orofaciodigital Syndrome I	Low-set ears, Carious teeth, Clinodactyly, Hearing impairment, Ankyloglossia, Agenesis of corpus ...	OMIM:311200
C Syndrome	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Thick anter...	OMIM:211750
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint hypermobility, Polydactyly, Progressive macrocephaly, Microphthalmia, Leukemia, Syndactyly	OMIM:602501
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Phaver Syndrome	Low-set ears, Aplasia/Hypoplasia of the earlobes, Broad thumb, Ventricular septal defect, Radioul...	ORPHA:2876
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Slender finger, Dental crowding, Aortic dissection, Bruising susceptibility, Underdeveloped nasal...	OMIM:618343
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho...	ORPHA:1837
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Hip dysplasia, Flexion contracture, Scoliosis, Short nose	OMIM:618379
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ...	OMIM:612813
Cerebral Cavernous Malformations	Cerebral cavernous malformation, Intracranial hemorrhage, Hepatic vascular malformations	OMIM:116860
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Low-set ears, Congenital shortened small intestine, Micrognathia, Neonatal death, Ventricular sep...	OMIM:265380
Pycnodysostosis	Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Mic...	ORPHA:763
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Coronal craniosynostosis, Small hand, Joint contracture of the hand, Flat face, Erysipelas, Hypop...	OMIM:235510
Weiss-Kruszka Syndrome	Prominent nasal tip, Clinodactyly of the 5th finger, Proximal placement of thumb, Short nose, Pro...	ORPHA:502430
Omodysplasia 1	Axillary pterygium, Flat face, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion...	OMIM:258315
Duane-Radial Ray Syndrome	Ventricular septal defect, Sensorineural hearing impairment, Aplasia of metacarpal bones, Atrial ...	OMIM:607323
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Recurrent sinusitis, Joint hypermobility, Pes planus, Osteoarthritis, Hyperext...	OMIM:130000
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Fem...	OMIM:616723
Developmental Delay With Variable Neurologic And Brain Abnormalities	Micrognathia, Knee flexion contracture, Down-sloping shoulders, Cubitus valgus, Microcephaly, Mic...	OMIM:619694
Opsismodysplasia	Depressed nasal bridge, Broad thumb, Abnormal epiphysis morphology, Respiratory insufficiency, Sh...	ORPHA:2746
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Congenital ...	OMIM:619656
Cleidocranial Dysplasia	Short face, Hypoplastic scapulae, Genu valgum, Micrognathia, Decreased skull ossification, Abnorm...	ORPHA:1452
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Optic atrophy, Abnormal auditory evoked potential...	OMIM:125250
Bannayan-Riley-Ruvalcaba Syndrome	Broad thumb, Arteriovenous malformation, Micrognathia, Myopathy, Telangiectasia, Macrotia, Short ...	ORPHA:109
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Leukodystrophy, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfuncti...	OMIM:169500
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Joint hypermobility, Convex nasal ridge, Scoliosis, Short nose	ORPHA:1695
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation	OMIM:615035
Trisomy 12P	Flat face, Micrognathia, Aplasia/Hypoplasia of the iris, Large hands, Clinodactyly of the 5th fin...	ORPHA:1699
Internal Carotid Absence	Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia	ORPHA:981
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Scoliosis, Recurrent fractures	OMIM:615066
Sandestig-Stefanova Syndrome	Wide nasal bridge, Clinodactyly, Retrognathia, Short neck, Convex nasal ridge, Camptodactyly, Roc...	OMIM:618804
Spinal Muscular Atrophy, Type I	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
X-Linked Dominant Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Lower limb asymmetry, Epiphyseal stippling, Upper limb asymmetry,...	ORPHA:35173
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi...	ORPHA:2909
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Microphth...	OMIM:601812
Isolated Klippel-Feil Syndrome	Hearing impairment, Abnormality of the vertebral column, Abnormal shoulder morphology, Congenital...	ORPHA:2345
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase con...	OMIM:614886
Peroxisome Biogenesis Disorder 5A (Zellweger)	Flat face, Failure to thrive, Persistent open anterior fontanelle, Hepatosplenomegaly, Epiphyseal...	OMIM:614866
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Um...	ORPHA:1488
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral my...	OMIM:607831
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Limitation of joint mobility, Joint dislocation, Calcification of cartilage, J...	ORPHA:1416
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi...	OMIM:607634
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Calcino...	ORPHA:221016
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont...	ORPHA:536516
Achondrogenesis, Type Ii	Microretrognathia, Abnormally large globe, Broad long bones, Short tubular bones of the hand, Hyp...	OMIM:200610
Panner Disease	Limited elbow extension, Joint swelling, Abnormality of upper limb joint, Limited elbow movement,...	ORPHA:97336
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end...	OMIM:620249
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Bruck Syndrome 2	Platyspondyly, Osteopenia, Elbow flexion contracture, Pterygium, Femoral bowing, Increased suscep...	OMIM:609220
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Short ribs, Cupped ribs, Hypo...	OMIM:614524
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Proximal spinal muscular a...	ORPHA:1320
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc...	ORPHA:163966
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Decreased body weight, Osteopetrosis, Macrocephaly, Microphthalmia, Clinodactyly of...	OMIM:617306
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Bifid distal phalanx of toe, Flat face, Cutaneous finger syndactyly, Diastasis ...	OMIM:618419
Fetal Gaucher Disease	Depressed nasal bridge, Arthrogryposis multiplex congenita, Low-set, posteriorly rotated ears, Ab...	ORPHA:85212
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microcephaly, Abnormal facial shape, Microphthalmia	OMIM:616335
Myopathy, Distal, 3	Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa...	OMIM:610099
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Multiple small vertebral fractures, Slender long bone, Bowing of the l...	OMIM:619795
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Hip contracture, Short ribs, ...	OMIM:156400
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Acromesomelia, Eczematoid dermatitis, Abnormal earlobe morphology, Umbilical he...	ORPHA:500159
Degcags Syndrome	Low-set ears, Toe syndactyly, Hearing impairment, Cholestasis, Hepatosplenomegaly, Genu valgum, M...	OMIM:619488
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Short palm	ORPHA:168555
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Hao-Fountain Syndrome	Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles, Delayed cranial suture closure	OMIM:616863
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Back pain, Vascular dilatation, Hepatomegaly, Polycystic liver disea...	ORPHA:2924
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Marshall Syndrome	Flat face, Micrognathia, Genu valgum, Osteoarthritis, Hypoplastic frontal sinuses	ORPHA:560
Spondylosis, Cervical	Spina bifida occulta, Cervical spondylosis, Osteoarthritis	OMIM:184300
Autosomal Recessive Robinow Syndrome	Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Hearing impairment, E...	ORPHA:1507
Spinocerebellar Ataxia Type 43	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	ORPHA:497764
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Depressed nasal bridge, Metaphyseal cupping, Platyspondyly, Retro...	OMIM:618853
Cantú Syndrome	Finger syndactyly, Short neck, Short hallux, Patent ductus arteriosus, Ovoid vertebral bodies, Hy...	ORPHA:1517
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Lipid accumulation in hepatocytes, Agenesis of corpus callosum, Arrhythmia, Elevate...	OMIM:608836
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies, Joint hypermobility, A...	ORPHA:2759
Congenital Gerbode Defect	Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en...	ORPHA:99095
Verheij Syndrome	Short 5th finger, Wide nasal bridge, Broad nasal tip, Retrognathia, Clinodactyly, Branchial cyst,...	OMIM:615583
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Platyspondyly, Abnormal metacarpal morphology	OMIM:269630
20Q11.2 Microduplication Syndrome	Flat face, Limited elbow extension, Microcephaly, Coarse facial features, Triangular face, Deep p...	ORPHA:363659
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Microcephaly, Abnormal facial shape, Gait disturbance, Ataxia, Triangular ...	ORPHA:544254
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium, Abnormal hand mo...	ORPHA:371428
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Aplastic anemia, Leuk...	ORPHA:221008
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o...	ORPHA:2839
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi...	ORPHA:90652
Trisomy 8P	Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Agenesis of corp...	ORPHA:264450
Gorham-Stout Disease	Hearing impairment, Abnormality of the internal auditory canal, Abnormal bone ossification, Torti...	ORPHA:73
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Low-set ears, Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defe...	OMIM:618316
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Cone-shaped epiphysis, Spinal canal stenosis, Anteverted nares, Malar fla...	OMIM:614613
Amyotrophic Lateral Sclerosis 20	Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis	OMIM:615426
Aymé-Gripp Syndrome	Flat face, Scoliosis, Limitation of joint mobility, Reduced arm span, Delayed cranial suture clos...	ORPHA:1272
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Deviation of finger, Joint stiffness, Arachnodactyly, Congenital finger flexion contractures, Bil...	ORPHA:1154
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Viss Syndrome	Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ...	OMIM:619472
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Bowing ...	OMIM:617952
Glycine Encephalopathy With Normal Serum Glycine	Genu recurvatum, Hand clenching, Depressed nasal bridge, Optic atrophy, Retrognathia, Elbow flexi...	OMIM:617301
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p...	ORPHA:1553
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Microphthalmia, Isolated 4	Postaxial polydactyly, Microphthalmia	OMIM:613094
Schimke Immunoosseous Dysplasia	Platyspondyly, Osteopenia, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis...	OMIM:242900
16P11.2P12.2 Microdeletion Syndrome	Flat face, Microretrognathia, Toe syndactyly, Camptodactyly of finger, Bilateral single transvers...	ORPHA:261211
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Micrognathia, Kyphoscoliosis, Microcephaly, Microphthalmia, Rocker botto...	OMIM:610756
Ruvalcaba Syndrome	Small hand, Kyphosis, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited elbow extension...	OMIM:180870
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Failure to t...	OMIM:277170
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Micrognathia, Joint stiffness,...	ORPHA:1166
Craniometadiaphyseal Dysplasia	Wide anterior fontanel, Osteopenia, Abnormally large globe, Absent paranasal sinuses, Flared meta...	OMIM:269300
Orofaciodigital Syndrome Type 1	Finger syndactyly, Hearing impairment, Open bite, Micrognathia, Agenesis of corpus callosum, Foot...	ORPHA:2750
Chromosome 1P36 Deletion Syndrome, Proximal	Low-set ears, Clinodactyly, Biventricular hypertrophy, Micrognathia, Ventricular septal defect, B...	OMIM:619343
Morgagni-Stewart-Morel Syndrome	Obesity, Osteoarthritis, Osteoporosis, Acne, Hyperostosis frontalis interna	ORPHA:77296
Hartsfield Syndrome	Craniosynostosis, Aplasia/Hypoplasia of the radius, Split hand, Microphthalmia	ORPHA:2117
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Recurrent otitis media, Broad foot, Broad phalanx, Metaphyseal dysplasia, ...	ORPHA:2502
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Spinal rigidity, Left anterior ...	OMIM:181350
Hall-Riggs Syndrome	Wide nasal bridge, Platyspondyly, Abnormal epiphysis morphology, Delayed eruption of teeth, Abnor...	ORPHA:2107
Al Kaissi Syndrome	Small hand, Broad-based gait, Clinodactyly, Malar rash, Decreased body weight, Microcephaly, Deep...	OMIM:617694
Diaphanospondylodysostosis	Depressed nasal ridge, Depressed nasal bridge, Unossified sacrum, Tracheomalacia, Respiratory ins...	OMIM:608022
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Frontonasal Dysplasia 1	Low-set ears, Joint contracture of the hand, Clinodactyly, Agenesis of corpus callosum, Bifid nos...	OMIM:136760
Rhyns Syndrome	Osteopenia, Radial bowing, Brachydactyly, Short long bone, Osteoporosis, Short femoral neck	OMIM:602152
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic facial bones, Hypoplastic scapulae, Hypoplasia of the odontoid process...	OMIM:607326
Menkes Disease	Micrognathia, Bowing of the long bones, Tarsal synostosis, Gastrointestinal hemorrhage, Osteomyel...	ORPHA:565
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Low-set ears, Dental crowding, Tricuspid regurgitation, Abnormal heart val...	ORPHA:228410
Aspergillosis	Hepatitis, Abnormal rib morphology, Nasal congestion, Abnormality of the vertebral column, Osteom...	ORPHA:1163
Acrocraniofacial Dysostosis	Broad thumb, Genu valgum, Micrognathia, Sensorineural hearing impairment, Abnormality of the mall...	ORPHA:949
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
Menkes Disease	Metaphyseal spurs, Intrauterine growth retardation, Death in childhood, Joint hypermobility, Worm...	OMIM:309400
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped...	ORPHA:2299
Hurler Syndrome	Abnormal vertebral morphology, Limitation of joint mobility, Hearing impairment, Endocardial fibr...	ORPHA:93473
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Pterygium...	OMIM:259450
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Low-set, posteriorly rotated ears...	ORPHA:2311
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
Craniodiaphyseal Dysplasia, Autosomal Dominant	Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Craniofacial osteosclerosis...	OMIM:122860
Three M Syndrome 2	Thin ribs, Short 5th finger, Slender long bone, Clinodactyly, Lumbar hyperlordosis, Prominent cal...	OMIM:612921
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity	ORPHA:101082
Silver-Russell Syndrome 3	Small hand, Elbow contracture, Decreased body weight, Antecubital pterygium, Clinodactyly of the ...	OMIM:616489
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossification, Broad long bone...	ORPHA:1422
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial fo...	ORPHA:1106
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec...	OMIM:271665
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encepha...	OMIM:241800
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Ptosis, Abnormal muscle fiber protein expression	ORPHA:330054
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carious teeth, Hearing impairment, Hypo...	OMIM:253200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Ventricular se...	OMIM:301056
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi...	OMIM:610168
Kbg Syndrome	Persistent open anterior fontanelle, Finger clinodactyly, Cervical ribs, Single transverse palmar...	ORPHA:2332
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ragged-red muscle fibers, Myopathy	OMIM:545000
Meacham Syndrome	Death in childhood, Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial sept...	OMIM:608978
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Heterotaxy, Visceral, 4, Autosomal	Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia...	OMIM:613751
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination	OMIM:616287
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Triceps weakness, Foot...	OMIM:619574
Congenital Disorder Of Glycosylation, Type Iu	Optic atrophy, Neonatal respiratory distress, Congenital contracture, Micrognathia, Death in infa...	OMIM:615042
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy...	OMIM:617228
Toriello-Carey Syndrome	Low-set ears, Clinodactyly, Hearing impairment, Micrognathia, Agenesis of corpus callosum, Short ...	ORPHA:3338
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Depressed nasal bridge, Rhizomelia, Kyphosis, Lumbar hyperlordosis, Femoral bowing...	OMIM:616482
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Optic disc pallor, Ptosis	OMIM:617235
Trisomy 13	Low-set ears, Abnormal helix morphology, Abnormal antihelix morphology, Ventricular septal defect...	ORPHA:3378
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Abnormal form of the vertebral bodies, Fibula...	ORPHA:3144
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Abnormality of the outer ear, Hypoplasia of the maxilla, Absent tragus, Conductive ...	ORPHA:79113
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ptosis, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short 5th finger, Flat face, Small hand, Toe syndactyly, Secondary microcephaly, Micrognathia, Si...	OMIM:610759
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Abnormality of the nose, Curved distal phalanges of...	ORPHA:3152
Congenital Rubella Syndrome	Splenomegaly, Skin rash, Aplasia/Hypoplasia of the iris, Microcephaly, Thrombocytopenia, Micropht...	ORPHA:290
Cap Myopathy	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Fatiguable weakness o...	ORPHA:171881
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Aneurysm, Intracranial Berry, 1	Dilatation of the cerebral artery, Intracranial hemorrhage	OMIM:105800
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial...	ORPHA:2249
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Micrognathia, Clinodactyly of the 5th finger, Broad thumb, Flat face	ORPHA:2001
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Dislocation of the f...	OMIM:260660
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Promi...	ORPHA:71267
Edinburgh Malformation Syndrome	Slender finger, Ulnar deviation of finger, Choanal atresia, Respiratory insufficiency, Joint stif...	ORPHA:1895
Neuromyelitis Optica Spectrum Disorder	Peripheral demyelination	ORPHA:71211
Terminal Osseous Dysplasia	Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Dep...	OMIM:300244
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormal joint morphology, Abnormal hip bone morphology, Abnormal ...	ORPHA:3130
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum	OMIM:608361
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o...	OMIM:253220
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Micromelia, Flared metaphysis,...	OMIM:187601
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all...	ORPHA:77258
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Macrocephaly, Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology	ORPHA:1506
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys...	OMIM:208530
Down Syndrome	Macroglossia, Flat face, Sandal gap, Polycythemia, Obesity, Bilateral single transverse palmar cr...	ORPHA:870
Cardioacrofacial Dysplasia 2	Postaxial foot polydactyly, Genu valgum, Prominent nasal tip, Left superior vena cava draining to...	OMIM:619143
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Malar flattening, Brachydactyly, Split hand, Convex ...	ORPHA:2145
Mulchandani-Bhoj-Conlin Syndrome	Clinodactyly, Failure to thrive, 2-3 toe syndactyly, Hyperlordosis, Triangular face, Scoliosis	OMIM:617352
Chromosome 10Q26 Deletion Syndrome	2-3 toe cutaneous syndactyly, Congenital hip dislocation, Broad-based gait, Toe syndactyly, Promi...	OMIM:609625
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Pear-shaped nose, Open mouth, Hand muscle atrophy, Ve...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Pear-shaped nose, Open mouth, Hand muscle atrophy, Ve...	ORPHA:363958
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Hypoplastic helices, Dental malocclusion, Hearing impairment, Overfolded helix...	OMIM:619149
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Microcephaly, Aplasia/Hypoplasia of the ulna...	ORPHA:2491
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Hip dislocation, Shallow acetabular fossae, Genu valgum, Broad femoral head, Severe p...	OMIM:620639
Marshall Syndrome	Platyspondyly, Hypoplastic ilia, Radial bowing, Recurrent otitis media, Irregular femoral epiphys...	OMIM:154780
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Abnormal metaphysis morphology, Kyphoscoliosis	ORPHA:93304
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele...	OMIM:607459
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm...	ORPHA:63446
Temple-Baraitser Syndrome	Short distal phalanx of finger, Depressed nasal bridge, Broad thumb, Broad hallux, Downturned cor...	OMIM:611816
8P23.1 Duplication Syndrome	Toe syndactyly, Hearing impairment, Long philtrum, Tetralogy of Fallot, Ventricular septal defect...	ORPHA:251076
Distal Duplication 18Q	Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ...	ORPHA:1716
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Radial bowing, Ulnar bowing, Limited...	OMIM:605432
Craniodiaphyseal Dysplasia	Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Conductive hearing impairme...	ORPHA:1513
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Optic atrophy, Camptodactyly of finger, Micrognathia, Death in infancy, Short nose	ORPHA:1495
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste...	OMIM:259100
Koolen-De Vries Syndrome	Aortic root aneurysm, Pear-shaped nose, Open mouth, Ventricular septal defect, Bicuspid aortic va...	OMIM:610443
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Joint hypermobility, Microcephaly, Brach...	OMIM:619184
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Osteopenia, Reduced natural killer cell count, Short distal phala...	ORPHA:221139
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Decreased motor nerve conduction velocity, Failur...	OMIM:619026
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Optic atrophy, Rhizomelia, Proximal femoral metaphyseal irregularity, Narrow great...	OMIM:602271
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Joint stiffness, Osteoarthritis	ORPHA:1345
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortenin...	OMIM:601356
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:613752
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arteriovenous malformation, Genu valgum, Arachnodactyly, Hepatomegaly, High palate, Esophageal va...	ORPHA:394
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Neonatal respiratory distress, Micromelia, Anteverted ...	OMIM:610015
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Flat acetabu...	OMIM:250220
Monosomy 22	Flat face, Contractures of the large joints, Finger syndactyly, Hepatosplenomegaly, Joint swellin...	ORPHA:96123
Coffin-Siris Syndrome 7	Low-set ears, Hearing impairment, Recurrent otitis media, Ventricular septal defect, Bicuspid aor...	OMIM:618027
Marshall-Smith Syndrome	Choanal atresia, Optic atrophy, Retrognathia, Slender long bone, Anteverted nares, Increased susc...	ORPHA:561
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Small hand, Scoliosis, Elbow flexion contracture, Micrognathia, Hip contracture, Knee flexion con...	ORPHA:371364
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormality of the dentition, Small hand, Dental crowding, Abnormal heart valve morphology, Mitra...	ORPHA:2868
Mosaic Trisomy 14	Wide nasal bridge, Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Ante...	ORPHA:1703
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Natal tooth, Short tibia, Micrognathia, Absent gallbladder, Neonatal death, Short n...	OMIM:617925
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Hy...	ORPHA:163979
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Decreased nerve condu...	ORPHA:397744
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Axonal loss, Peripheral demyelination	OMIM:617672
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia, Abnormal rib morphology	ORPHA:195
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal...	OMIM:614302
Classical-Like Ehlers-Danlos Syndrome Type 2	Tooth malposition, Aortic root aneurysm, Elbow dislocation, Prominent veins on trunk, Periodontit...	ORPHA:536532
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Wide nasal bridge, Clubbing of toes, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Micro...	ORPHA:3304
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Avascular necrosis of the capital femoral epip...	OMIM:184100
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu...	ORPHA:85184
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development	Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Van Den Bosch Syndrome	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Scapular winging	ORPHA:3417
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Ventricular septal defect, Radioulnar syn...	OMIM:192350
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly	OMIM:610023
Frontoocular Syndrome	Low-set ears, Coronal craniosynostosis, Micrognathia, Prominent nasal bridge, Narrow mouth, Narro...	OMIM:605321
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Mitral regurgitation, Vent...	OMIM:608328
10Q22.3Q23.3 Microduplication Syndrome	Low-set ears, Abnormality of the dentition, Microretrognathia, Abnormal clavicle morphology, Tetr...	ORPHA:276422
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Broad thumb, Scoliosis, Prominent fingertip pads, Hearing impairment, Tho...	OMIM:619721
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Short nose, Wide nose	OMIM:125700
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ...	ORPHA:3003
Fanconi Anemia, Complementation Group S	Clinodactyly, Failure to thrive, Microphthalmia, Microcephaly, Coarse facial features, Ataxia, An...	OMIM:617883
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Macroglossia, Flat face, Joint stiffness, Abnormal hemoglobin, Infectious encephalitis, Talipes e...	ORPHA:847
Congenital Disorder Of Glycosylation, Type Ii	Flat face, Decreased body weight, Joint hypermobility, Microcephaly, Iron deficiency anemia	OMIM:607906
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, Short foo...	OMIM:166250
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero...	OMIM:207410
Refsum Disease	Abnormal epiphysis morphology, Skeletal muscle atrophy, Abnormal foot morphology, Pes cavus, Sple...	ORPHA:773
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Arrhythmia, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis	OMIM:618453
Martsolf Syndrome 1	Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, Microphthalmia, Finger joint hype...	OMIM:212720
Distal Deletion 12Q	Overlapping toe, Micrognathia, Large hands, Flat face, Congenital hypertrophy of left ventricle, ...	ORPHA:96149
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Ventricu...	OMIM:300373
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Onion bulb formation, Myelin outfoldings	OMIM:615284
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Severe conductive hearing impairment, Genu valgum, Mitral regurgitation, Mi...	ORPHA:230851
Peho-Like Syndrome	Optic atrophy, Retrognathia, Short nose, Tapered finger	OMIM:617507
Sneddon Syndrome	Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension	OMIM:182410
Mosaic Trisomy 9	Low-set ears, Limitation of joint mobility, Elbow dislocation, Endocardial fibroelastosis, Microg...	ORPHA:99776
Pycnodysostosis	Aplastic clavicle, Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Persistence...	OMIM:265800
Congenital Myopathy 15	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac...	OMIM:620161
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome	Absent frontal sinuses, Flat face, Round face, Palmoplantar keratoderma	ORPHA:2536
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Gastrointestinal hemorrhage, Abnormal sternum morphology, Medial calcificati...	OMIM:177850
Keutel Syndrome	Short distal phalanx of finger, Depressed nasal bridge, Hearing impairment, Underdeveloped nasal ...	ORPHA:85202
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Skeletal muscle atrophy, Limitation of joint mobility, Abnormal rib mo...	ORPHA:3068
Melnick-Needles Syndrome	Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, Genu valgum, Microg...	OMIM:309350
Wiedemann-Steiner Syndrome	Flat face, Rhizomelia, Clinodactyly, Failure to thrive, Microcephaly, Abnormality of the elbow, A...	ORPHA:319182
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Xk Aprosencephaly Syndrome	Microphthalmia, Microcephaly, Abnormal morphology of the radius	ORPHA:3469
Muscular Dystrophy, Congenital, 1B	Spinal rigidity, Facial palsy, Respiratory failure, Achilles tendon contracture	OMIM:604801
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Short 1st metacarpal, Decreased body weight, M...	OMIM:609053
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Peripheral demyelination, Leukodystrophy	OMIM:614877
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Joint dislocation, Short toe, Ulnar deviation of the 2nd finger,...	OMIM:616145
Apert Syndrome	Flat face, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Cervical C5/C6 vertebrae f...	ORPHA:87
Momo Syndrome	Bilateral microphthalmos, Long foot, Macrocephaly, Obesity, Femoral bowing, Large for gestational...	ORPHA:2563
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Hearing impairment, Partial fusion of...	OMIM:305620
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Abnormal metacarpal m...	ORPHA:251014
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Wide nasal bridge, Osteopenia, Abnormality of the dentition, Delayed eruption of teeth, Eczematoi...	ORPHA:2314
Trisomy 17P	Aortic valve stenosis, Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Short neck, ...	ORPHA:261290
Posterior Column Ataxia With Retinitis Pigmentosa	Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination	OMIM:609033
Lethal Congenital Contracture Syndrome 10	Low-set ears, Increased variability in muscle fiber diameter, Overlapping fingers, Micrognathia, ...	OMIM:617022
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Pectus carinatum, Genu recurvatum, Aortic root aneurysm, Situs inversus tot...	OMIM:609008
Chromosome 13Q33-Q34 Deletion Syndrome	Hearing impairment, Overlapping toe, Micrognathia, Open mouth, Encephalocele, Irregular dentition...	OMIM:619148
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Difficulty walking, Bowing of the long bones, Abnormal m...	ORPHA:249
Central Core Disease	Nemaline bodies, Congenital hip dislocation, Type 1 muscle fiber predominance, Multiple joint con...	ORPHA:597
Potocki-Shaffer Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Wormian bones, 2-5 finger cutaneous syndactyly, Bra...	OMIM:601224
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Angioedema, Cere...	ORPHA:449285
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Relative...	OMIM:616300
Circumvallate Placenta Syndrome	Polyhydramnios, Intracranial hemorrhage	OMIM:215550
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Failure to thrive, Abnormality of the spleen, Micrognathia, Microcephaly...	ORPHA:94063
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Hand polydactyly, Atrial septal defect, Torticollis, Everted lower lip...	OMIM:249670
Sneddon Syndrome	Vertigo, Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Recurrent pneumonia, Splenomegaly, Multiple rib fractures, F...	OMIM:612301
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Femoral bowing, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:126550
Aminopterin/Methotrexate Embryofetopathy	Finger syndactyly, Micrognathia, Encephalocele, Ventricular septal defect, Aplasia/Hypoplasia of ...	ORPHA:1908
Dysosteosclerosis	Platyspondyly, Craniofacial hyperostosis, Optic atrophy, Coarse metaphyseal trabecularization, De...	ORPHA:1782
Stuve-Wiedemann Syndrome 1	Wide nasal base, Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the...	OMIM:601559
Skin Creases, Congenital Symmetric Circumferential, 1	Flat face, Micrognathia, Microcephaly, Long fingers, Microphthalmia	OMIM:156610
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:614096
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Kyphosis, Short 4th toe, Failure to thrive, Short humerus, Abnormal facial ...	ORPHA:420794
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresi...	ORPHA:99050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Decreased number of peri...	OMIM:607250
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Abnormality of the medullary cavity of the long bones, Thickened cortex of long b...	OMIM:127000
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Ring Chromosome 8 Syndrome	Anteverted nares, Deviation of finger, Short nose	ORPHA:1450
19P13.12 Microdeletion Syndrome	Low-set ears, Finger syndactyly, Mitral regurgitation, Hepatic steatosis, Ventricular septal defe...	ORPHA:254346
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Bulbous nose, Anteverted nares, Flexion contracture, Scoliosis, Respiratory failur...	OMIM:616505
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Low-set ears, Slender finger, Broad thumb, Downturned corners of mouth, Diastema, Umbilical herni...	ORPHA:329224
Marfan Syndrome	Aortic root aneurysm, Open bite, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Limit...	ORPHA:558
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse palmar crease, J...	OMIM:620098
Lateral Meningocele Syndrome	Low-set ears, Craniofacial hyperostosis, Atresia of the external auditory canal, Micrognathia, Ve...	ORPHA:2789
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,...	ORPHA:3258
8Q24.3 Microdeletion Syndrome	Square face, Secondary microcephaly, Talipes, Short hallux, Pes planus, Short 5th finger, Bilater...	ORPHA:508488
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Subaortic Stenosis-Short Stature Syndrome	Acne, Synostosis of carpal bones, Low-set, posteriorly rotated ears, Anteverted nares, Micrognath...	ORPHA:3191
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca...	ORPHA:2633
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance...	OMIM:605355
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Wide nasal bridge, Low-set ears, Retrognathia, Long philtrum, Cleft upper ...	OMIM:243310
Proteus Syndrome	Depressed nasal bridge, Mandibular hyperostosis, Facial hyperostosis, Venous malformation, Open m...	OMIM:176920
Meckel Syndrome, Type 1	Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Natal tooth, Lar...	OMIM:249000
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Scoliosis, Respiratory failure, Respiratory insufficiency...	ORPHA:2590
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Low-set ears, Hearing impairment, Recurrent otitis media, Overlapping toe, Overlapping fingers, O...	OMIM:618494
Smith-Mccort Dysplasia 2	Platyspondyly, Mandibular prognathia, Hypoplasia of the odontoid process, Broad femoral neck, Gen...	OMIM:615222
Wiedemann-Rautenstrauch Syndrome	Recurrent otitis media, Slender build, Synovitis, Ataxia, Recurrent skin infections, Irregular sc...	ORPHA:3455
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Broad phalanges of the ...	OMIM:277600
Biemond Syndrome Type 2	Microphthalmia, Obesity, Preaxial polydactyly	ORPHA:141333
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Kyphosis, Abnormal ver...	ORPHA:3121
Loeys-Dietz Syndrome 1	Low-set ears, Hypoplasia of the musculature, Aortic root aneurysm, Micrognathia, Mitral valve pro...	OMIM:609192
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Metachondromatosis	Abnormal joint morphology, Bowing of the long bones, Multiple enchondromatosis, Posteriorly rotat...	OMIM:156250
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Low-set ears, Depressed nasal bridge, Unilateral cleft lip, Thick lower lip vermilion, Bulbous no...	OMIM:619103
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Broad face, Micr...	OMIM:109400
Mulibrey Nanism	Single transverse palmar crease, Absent frontal sinuses, Thickened cortex of long bones, Triangul...	OMIM:253250
Paget Disease Of Bone 6	Left ventricular hypertrophy, Recurrent fractures, Osteoarthritis	OMIM:616833
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Chronic rhinitis,...	ORPHA:3312
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Proximal femoral epiphysiolysis, Failure to thrive, Persistence of hemoglobi...	OMIM:260400
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Irregular vertebral endp...	OMIM:612847
Myhre Syndrome	Craniofacial hyperostosis, Hearing impairment, Narrow mouth, Hypoplasia of the maxilla, Abnormal ...	ORPHA:2588
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Joint contracture of the hand, Delayed cranial suture closure, Premature os...	OMIM:611962
Joubert Syndrome 15	Exencephaly	OMIM:614464
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis, Camptodactyly of finger	ORPHA:3180
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Prominent fingertip pads, Narrow foot, Facial asymmetry, Clinodactyly of the 5th finger, Relative...	ORPHA:231137
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Inability to walk, Microcephaly, Calf muscle hypertrophy, Microphthalmia, Mac...	OMIM:613155
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Abnormality of the vertebral col...	OMIM:302950
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Fatigable weakness of respiratory muscles, Abnormal mu...	ORPHA:681
Fanconi Anemia, Complementation Group R	Absent thumb, Radial dysplasia, Microcephaly, Microphthalmia, Anemia, Scoliosis	OMIM:617244
Oculofaciocardiodental Syndrome	Tooth malposition, Hearing impairment, Genu valgum, Mitral valve prolapse, Sensorineural hearing ...	ORPHA:2712
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Umbilical hernia, Sacral dimple, Micrognathia, Prominent nasal bridge, Joint hyp...	OMIM:613544
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac...	OMIM:616470
Familial Cervical Artery Dissection	Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach...	ORPHA:36382
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Lumba...	OMIM:169550
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Saul-Wilson Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Micrognathia, Sensorineural hearing impai...	OMIM:618150
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Abnormal optic disc mo...	ORPHA:363417
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Optic disc pallor, Respiratory failure, Wide anterior fontanel	OMIM:618240
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Abnormal lim...	ORPHA:2204
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Clinodactyly, Micrognathia, Agenesis of corpus callosum, Short neck, Abnormal pinna morphology, S...	OMIM:217980
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Low-set ears, Broad thumb, Toe syndactyly, Micrognathia, Open mouth, Narrow mouth, Agenesis of co...	OMIM:619720
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Low-set ears, Retrognathia, Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly ...	ORPHA:1194
Nestor-Guillermo Progeria Syndrome	Thin ribs, Micrognathia, Mitral regurgitation, Limited elbow movement, Right atrial enlargement, ...	OMIM:614008
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Ventricul...	ORPHA:508498
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Wide nasal bridge, Pectus carinatum, Small hand, Clinodactyly, Long philtrum, Overfolded helix, T...	OMIM:614684
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Metatarsal periosteal thickening, Metacarpal periosteal thickening, Perioste...	OMIM:161700
Myhre Syndrome	Aortic valve stenosis, Low-set ears, Limitation of joint mobility, Clinodactyly, Hearing impairme...	OMIM:139210
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Limitation of joint mobility, Finger syndactyly, Hearing impairment, Micrognathia, ...	ORPHA:2990
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to fractures, ...	OMIM:259770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Respiratory failure, Hyperlordosis, Achilles tendon contracture, Vertebral fus...	OMIM:606612
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Irregular ...	OMIM:226980
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Depressed nasal ridge, Low-set ears, Joint dislocation, Edema, Cleft upper lip, Short ...	OMIM:312150
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Short toe, Thoracic kyphosis, Waddling gait, Flat ca...	OMIM:609162
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Optic atrophy, Recurrent fractures	ORPHA:2773
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi...	OMIM:600920
Joubert Syndrome 27	Ataxia, Triangular face, Gait ataxia, Polydactyly	OMIM:617120
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Failure to thrive, Inability to walk, Secondary microcephaly, Arachnodac...	OMIM:616420
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Limb undergrowth, Communicating hydrocephalus, Abnormal metaphysis morphol...	ORPHA:1861
19P13.3 Microduplication Syndrome	Low-set ears, Clinodactyly, Underdeveloped nasal alae, Intrauterine growth retardation, Micrognat...	ORPHA:447980
Lipodystrophy, Congenital Generalized, Type 4	Increased variability in muscle fiber diameter, Hepatic steatosis, Hepatomegaly, Tachycardia, Spi...	OMIM:613327
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Bifid uvula, Retrognathia, Downturned corners of mouth, Sacral dimple, In...	OMIM:301030
Overlap Myositis	Perifascicular muscle fiber atrophy, Finger swelling, Proximal muscle weakness in upper limbs, Rh...	ORPHA:206572
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Clinodactyly, Micrognathia, Talipes equinovarus, Large hands, Genu varum, Hypoplastic ...	OMIM:264090
Marfan Syndrome	Increased axial length of the globe, Decreased muscle mass, Premature osteoarthritis, Micrognathi...	OMIM:154700
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Micrognathia, Short nose	ORPHA:261120
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Systemic Sclerosis	Intestinal bleeding, Finger swelling, Narrow mouth, Telangiectasia, Recurrent skin infections, Ab...	ORPHA:90291
Periventricular Nodular Heterotopia 7	Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2...	OMIM:617201
Alg9-Cdg	Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Delayed cranial suture closure, M...	ORPHA:79328
Geleophysic Dysplasia 1	Aortic valve stenosis, Joint contracture of the hand, Short palm, Short metacarpals with rounded ...	OMIM:231050
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination	OMIM:616733
Silver-Russell Syndrome 2	Micrognathia, 2-3 toe syndactyly, Delayed closure of the anterior fontanelle, Clinodactyly of the...	OMIM:618905
Oncogenic Osteomalacia	Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ...	ORPHA:352540
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Angioedema, Swelling of proximal interphalangeal joints, He...	ORPHA:3260
Arterial Tortuosity Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Generalized arterial tortuo...	OMIM:208050
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Hypertension, Complete duplication of the dis...	ORPHA:1879
Intellectual Developmental Disorder, Autosomal Dominant 48	Low-set ears, Lateral ventricle dilatation, Eczematoid dermatitis, Umbilical hernia, Recurrent ot...	OMIM:617751
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity...	ORPHA:90103
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Joint hypermobility, Hip dysplasia, Clinodactyly of the 5th finge...	OMIM:617991
Criss-Cross Heart	Abnormal thorax morphology, Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve...	ORPHA:1461
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy	ORPHA:263494
Cartilage-Hair Hypoplasia	Metaphyseal cupping, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, ...	OMIM:250250
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Recur...	OMIM:164745
Intellectual Disability, Buenos-Aires Type	Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumbar vertebral bodies, Microcephal...	ORPHA:3079
Trisomy 1Q	Low-set ears, Abnormality of the outer ear, Toe syndactyly, Narrow mouth, Congenital diaphragmati...	ORPHA:261344
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Arthrogryposis-like hand anomaly, Clinodactyly, Bilateral microphthalmos, Abnormal foot morpholog...	ORPHA:369891
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula...	OMIM:600001
Cohen Syndrome	Finger syndactyly, Sandal gap, Failure to thrive in infancy, Abnormal hip bone morphology, Genu v...	ORPHA:193
Hemochromatosis, Type 4	Anemia, Osteoarthritis	OMIM:606069
Phosphoribosylaminoimidazole Carboxylase Deficiency	Lumbar hemivertebrae, Flat face, Missing ribs, Talipes equinovarus, Clinodactyly of the 5th finger	OMIM:619859
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndacty...	ORPHA:3082
White Forelock With Malformations	Finger syndactyly, Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, Abnormal pa...	ORPHA:2475
Pseudo-Torch Syndrome 2	Thin ribs, Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect...	OMIM:617397
Intermediate Nemaline Myopathy	Facial diplegia, Multiple prenatal fractures, Flexion contracture, Facial palsy, Arthrogryposis m...	ORPHA:171433
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cranial suture cl...	OMIM:175700
Kabuki Syndrome 2	Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Micrognathia, Atrial septa...	OMIM:300867
Loeys-Dietz Syndrome	Micrognathia, Arachnodactyly, High palate, Patent ductus arteriosus, Pectus carinatum, Joint disl...	ORPHA:60030
Cutis Laxa, Autosomal Recessive, Type Ic	Micrognathia, Death in childhood, Periorbital edema, Rectal prolapse, Osteopenia, Tracheomalacia,...	OMIM:613177
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Delayed cranial suture closure, Joint hypermobility, Talipes equinovarus, Wormian bon...	OMIM:616603
Gm1 Gangliosidosis Type 1	Low-set ears, Hearing impairment, Cherry red spot of the macula, Hepatosplenomegaly, Macrotia, Pe...	ORPHA:79255
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Flat face, Thoracic scoliosis	OMIM:616994
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Broad thumb, Clinodactyly, Hearing impairment, Micrognathia, Ventricular septal def...	OMIM:616894
3Q29 Microdeletion Syndrome	Narrow face, Failure to thrive, Joint hypermobility, Microcephaly, Facial asymmetry, Gait disturb...	ORPHA:65286
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Osteopenia, Depressed nasal bridge, Metaphyseal dysplasia, Craniosynostosis...	OMIM:614732
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	ORPHA:1652
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Narrow nasal bridge, Micrognathia, Spina bifida occulta, Short nose	ORPHA:1514
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Periodontitis, Femoral bowing, Increased susceptibility to fractures, ...	OMIM:231070
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Limb hypertonia, Short tibia, Short femur	OMIM:620306
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia	OMIM:611263
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Menke-Hennekam Syndrome 2	Flat face, Cutaneous syndactyly of toes, Square face, Sandal gap, Overlapping toe, Micrognathia, ...	OMIM:618333
Flat Face-Microstomia-Ear Anomaly Syndrome	Flat face, Camptodactyly of finger, Micrognathia, Scoliosis, Long face	ORPHA:1968
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Peripheral demyelination, CNS demyeli...	ORPHA:206448
Adenylosuccinate Lyase Deficiency	Anteverted nares, Short nose, Prominent metopic ridge	ORPHA:46
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Microphthalmia, Symphalangis...	ORPHA:2547
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Flat face, Finger clinodactyly, Brachydactyly, Camptodactyly, Rocker bottom foot, Scoliosis, Tape...	OMIM:601353
Renpenning Syndrome	High, narrow palate, Skeletal muscle atrophy, Broad columella, Macrodontia, Prominent nose, Joint...	ORPHA:3242
Osebold-Remondini Syndrome	Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f...	OMIM:112910
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Noonan Syndrome 11	Low-set ears, Depressed nasal bridge, Hypertrophic cardiomyopathy, Bulbous nose, Atrial septal de...	OMIM:618499
Silver-Russell Syndrome	Lower limb asymmetry, Sandal gap, Abnormality of the calcaneus, Decreased muscle mass, Delayed cr...	ORPHA:813
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Congenital diaphragmatic hernia, Sandal gap, Microphthalmia	OMIM:300887
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Scoliosis, Slender long bone, Micrognathia, Joint hypermobility, Clin...	OMIM:170390
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ...	OMIM:619903
Camptodactyly Syndrome, Guadalajara, Type Iii	Flat face, Joint contracture of the hand, Small hypothenar eminence, Small thenar eminence, Torti...	OMIM:611929
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Flat face, Broad distal phalanx of finger, Micrognathia, Joint hypermobility, Talipes, Talipes eq...	OMIM:300990
Marbach-Rustad Progeroid Syndrome	Micrognathia, Short clavicles, Femur fracture, Wormian bones, Microcephaly, Triangular face, Redu...	OMIM:619322
Trigeminal Neuralgia	Peripheral demyelination, CNS demyelination, Cranial nerve compression	ORPHA:221091
Alg3-Cdg	Osteopenia, Abnormality of the nose, Cardiomyopathy, Hearing impairment, Decreased liver function...	ORPHA:79321
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Pulmonic stenosis, Hypodonti...	OMIM:212780
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ...	ORPHA:217085
Immunodeficiency 95	Recurrent viral upper respiratory tract infections, Respiratory failure	OMIM:619773
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Optic atrophy, Slender long bone, Anteverted nares, Joint hypermobility, Cubitus...	ORPHA:1185
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Respiratory failure, Abnormal seventh cranial phy...	ORPHA:90117
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Marden-Walker Syndrome	Low-set ears, Joint contracture of the hand, Decreased muscle mass, Micrognathia, Narrow mouth, A...	OMIM:248700
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, ...	OMIM:617809
Familial Osteodysplasia, Anderson Type	Tooth malposition, Carious teeth, Elbow dislocation, Abnormal earlobe morphology, Aplasia/hypopla...	ORPHA:2769
Localized Scleroderma	Skeletal muscle atrophy, Fasciitis, Sclerosis of finger phalanx, Esophagitis, Upper limb asymmetr...	ORPHA:90289
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Flat face, Reduced natural killer cell count, Failure to thrive, Micrognathia, Sinusit...	OMIM:242860
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Micrognathia, Thoracic scoliosis, Lumbar scoliosis, Talipes equinovarus, Microcephaly, Microphtha...	OMIM:616171
Sheldon-Hall Syndrome	Narrow face, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morph...	ORPHA:1147
Geroderma Osteodysplastica	Platyspondyly, Hip dislocation, Abnormal epiphysis morphology, Abnormal form of the vertebral bod...	ORPHA:2078
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes...	OMIM:300559
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, Ventricular septal defect, Sensorineural hearing impairment, Short neck, Broad toe,...	ORPHA:488632
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Retrognathia, Abnormal form of the vertebral bodies, Microgna...	ORPHA:3015
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Depressed...	OMIM:617102
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy	OMIM:616816
Myopathy, X-Linked, With Excessive Autophagy	Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus...	OMIM:310440
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Nathalie Syndrome	Arrhythmia, Sensorineural hearing impairment	ORPHA:2663
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Prolonged bleeding after dental e...	ORPHA:465
Mirage Syndrome	Radial club hand, Overlapping fingers, Intrauterine growth retardation, Petechiae, Talipes equino...	OMIM:617053
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Short distal phalanx of finger, Underdeveloped nasal alae, Intrauterine grow...	ORPHA:2516
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Myopathy	OMIM:300219
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad...	OMIM:600002
Propionic Acidemia	Eczematoid dermatitis, Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia, Pancreatitis, Hepa...	OMIM:606054
Cog1-Cdg	Hepatosplenomegaly, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, Flat acetabular ...	ORPHA:263508
Robinow Syndrome, Autosomal Dominant 1	Mesomelia, Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial...	OMIM:180700
Intellectual Developmental Disorder, Autosomal Recessive 45	Flat face, Coarse facial features, Round face	OMIM:615979
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ...	ORPHA:217093
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Depress...	ORPHA:85166
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Ogden Syndrome	Flared nostrils, Low-set ears, Everted upper lip vermilion, Delayed cranial suture closure, Torsa...	OMIM:300855
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Overlapping toe, Overlappi...	ORPHA:798
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Macrocephaly,...	ORPHA:580
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Retrognathia, Respiratory insufficiency, Arthrogryposis multiplex congenita, Respi...	OMIM:615330
Dural Sinus Malformation	Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage...	ORPHA:97339
Braddock-Carey Syndrome 2	Microcephaly, Clinodactyly, Thrombocytopenia, Microphthalmia	OMIM:619981
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ...	OMIM:218000
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Genu...	OMIM:600373
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis	OMIM:192950
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Shor...	OMIM:252600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Optic atrophy, Skeletal muscle atrophy, Bilateral...	OMIM:258450
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Natal tooth, Abnormal e...	ORPHA:50945
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum, Kyphoscoliosis, Pes planus, Generalized osteoporosis, Small joint hyp...	OMIM:184095
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Obesity, Aniridia, Camptodactyly of toe, Microcephaly, Macrocephaly, ...	ORPHA:251038
Fanconi Anemia, Complementation Group C	Anterior wedging of T12, Absent thumb, Short thumb, Pancytopenia, Microphthalmia, Microcephaly, A...	OMIM:227645
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ptosis, Ragged-red muscle fibers, Failure to thrive, Generalized amyotrophy	OMIM:613561
Warburg Micro Syndrome 3	Decreased muscle mass, Inability to walk, Secondary microcephaly, Micrognathia, Ankle clonus, Kyp...	OMIM:614222
Joubert Syndrome 18	Occipital encephalocele, Retrognathia, Intrauterine growth retardation, Trident pelvis, Ventricul...	OMIM:614815
Familial Multiple Nevi Flammei	Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he...	ORPHA:624
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity, Horizontal ribs, Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Meier-Gorlin Syndrome 3	Recurrent pneumonia, Microretrognathia, Slender long bone, Patellar hypoplasia, Tracheomalacia, F...	OMIM:613803
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Conical tooth, Diastema, Atrioventricular canal defect, Genu valgum, C...	OMIM:619142
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Joubert Syndrome 22	Postaxial foot polydactyly, 2-3 toe syndactyly, Abnormal facial shape, Microphthalmia, Postaxial ...	OMIM:615665
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a...	ORPHA:2255
Congenital Neuronal Ceroid Lipofuscinosis	Wide nasal bridge, Neonatal respiratory distress, Respiratory failure, Split hand	ORPHA:168486
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Toe syndactyly, Broad thumb, Finger syndactyly, Bicoronal synostosis, Apl...	ORPHA:93258
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Ventricular hypertrophy, Aortic root aneurysm, Recurrent otitis media, Underdevelop...	OMIM:620654
Acromegaly	Macrodactyly, Kyphosis, Deep plantar creases, Joint swelling, Broad foot, Cortical diaphyseal thi...	ORPHA:963
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Short nose, Microgna...	ORPHA:93328
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o...	ORPHA:2098
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra...	ORPHA:136
17P13.3 Microduplication Syndrome	Congenital hip dislocation, Short neck, Clinodactyly of the 5th finger, Short nose, Wide nose	ORPHA:217385
Muscular Dystrophy, Congenital, Lmna-Related	Muscular dystrophy, Upper limb muscle weakness, Failure to thrive, Elbow contracture, Muscle fibe...	OMIM:613205
Spondyloenchondrodysplasia	Pneumonia, Hypoplastic ilia, Short distal phalanx of finger, Platyspondyly, Granuloma, Hepatitis,...	ORPHA:1855
Tangier Disease	Peripheral axonal neuropathy, Peripheral demyelination, Facial diplegia	OMIM:205400
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi...	ORPHA:169802
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Aortic regurgitation, Wide nasal bridge, Platyspondyly, Broad clavicles, L...	OMIM:619698
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Hearing impairment, Thick low...	ORPHA:583
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Abnormality of the dentition, Atopic dermatitis, Eczematoid dermatitis, Cutaneous abscess, Chroni...	OMIM:618282
Double Outlet Right Ventricle	Hypoplastic left heart, Depressed nasal bridge, Pulmonary artery atresia, Tetralogy of Fallot, In...	ORPHA:3426
Hajdu-Cheney Syndrome	Aortic valve stenosis, Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, ...	ORPHA:955
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma...	OMIM:106300
Noonan Syndrome 14	Low-set ears, Clinodactyly, Lateral ventricle dilatation, Mitral valve prolapse, Short neck, Aort...	OMIM:619745
Beta-Mercaptolactate Cysteine Disulfiduria	Hypoplasia of the ear cartilage, Sandal gap, Micromelia, Umbilical hernia, Low-set, posteriorly r...	ORPHA:1035
Spondylocostal Dysostosis 4, Autosomal Recessive	Aplasia of posterior communicating artery, Bell-shaped thorax, Short neck, Dextrocardia, Myelomen...	OMIM:613686
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Facial asymmetry, Anophthalmia, Microphthalmia	OMIM:164180
Farber Disease	Skeletal muscle atrophy, Short toe, Failure to thrive, Abnormal foot morphology, Short finger, Ab...	ORPHA:333
Koolen-De Vries Syndrome	Arachnodactyly, Bicuspid aortic valve, Everted lower lip vermilion, Hip dislocation, High, narrow...	ORPHA:96169
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Subdural hemorrhage, Inc...	OMIM:620278
Desmosterolosis	Low-set ears, Abnormal earlobe morphology, Micrognathia, Narrow mouth, Agenesis of corpus callosu...	ORPHA:35107
Marfanoid-Progeroid-Lipodystrophy Syndrome	Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, High palate, Hyperextensibility of t...	OMIM:616914
Opsismodysplasia	Hypoplasia of the odontoid process, Large fontanelles, Short neck, Flat acetabular roof, Hypoplas...	OMIM:258480
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,...	OMIM:616867
Legius Syndrome	Low-set ears, High, narrow palate, Micrognathia, Short neck, Pectus excavatum, Supravalvar pulmon...	OMIM:611431
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Arachnodactyly, 2...	ORPHA:1692
Cardiofaciocutaneous Syndrome 1	Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, Short neck, Atrial septal ...	OMIM:115150
Zechi-Ceide Syndrome	Wide nasal bridge, Short distal phalanx of finger, Low-set ears, Abnormal helix morphology, Condu...	ORPHA:217017
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Delayed pubic bone ossification, Atrial septal defect, High palate, Patent duc...	OMIM:618162
Adams-Oliver Syndrome 2	Micrognathia, Single transverse palmar crease, Absent distal phalanges, Microcephaly, Limb hypert...	OMIM:614219
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Pt...	ORPHA:254886
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Spondyloenchondrodysplasia With Immune Dysregulation	Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Metaphyseal dysplasia, Neutropenia, Au...	OMIM:607944
Mietens Syndrome	Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph...	ORPHA:2557
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Depressed nasal ridge, Low-set ears, Joint dislocation, Edema, Short finger, Hypoplast...	OMIM:253290
Oculoauriculovertebral Spectrum With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Non-midline cleft of the u...	ORPHA:2549
Cole-Carpenter Syndrome	Kyphosis, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental ename...	ORPHA:2050
Chromosome 6Pter-P24 Deletion Syndrome	Low-set ears, Narrow mouth, Agenesis of corpus callosum, Ventricular septal defect, Telangiectasi...	OMIM:612582
Focal Dermal Hypoplasia	Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph...	ORPHA:2092
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Occipital encephalocel...	OMIM:216360
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Depressed nasal bridge, Platyspondyly, Broad nasal tip, Thoracolumbar kypho...	OMIM:617425
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Sandal gap, Abnormal form of the vertebr...	ORPHA:2180
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,...	ORPHA:3320
Meier-Gorlin Syndrome 5	Clinodactyly, Slender long bone, Elbow dislocation, Hypoplasia of the capital femoral epiphysis, ...	OMIM:613805
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Ventilator dependenc...	ORPHA:254875
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Depressed nasal bridge, Micromelia, Short ribs, Postaxial polydactyly, Brachyda...	OMIM:617895
Cranioectodermal Dysplasia 2	Low-set ears, Clinodactyly, Cholestasis, Micrognathia, Short neck, Atrial septal defect, Everted ...	OMIM:613610
Harrod Syndrome	Narrow face, Abnormal pelvic girdle bone morphology, Kyphosis, Failure to thrive, Abnormal should...	ORPHA:2115
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia, Joint contracture, Slende...	OMIM:615419
Fontaine Progeroid Syndrome	Low-set ears, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Bicuspid aortic valv...	OMIM:612289
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Peripheral demyelination, Short-segment aganglionic megacolo...	OMIM:609136
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Annular pancreas, V...	ORPHA:210122
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hearing impairment, Genu valgum, Abnormal mitral valve morphology, Sen...	ORPHA:581
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Micrognathia, Brachydactyly, Microphthalmia, Facial hypotonia, Triangular face	OMIM:614526
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, Narro...	OMIM:617746
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Joint stiffness, Joint swelling, Splenomegaly, Arthropathy, Abnormal metac...	ORPHA:465508
Somatomammotropinoma	Macrodactyly, Kyphosis, Deep plantar creases, Joint swelling, Broad foot, Cortical diaphyseal thi...	ORPHA:314769
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Bruising susceptibility, Mitral valve prola...	ORPHA:230839
Marshall-Smith Syndrome	Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ...	OMIM:602535
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Osteopenia, Wide nasal bridge, Skeletal muscle atrophy, Abnormality of pri...	ORPHA:75496
Muckle-Wells Syndrome	Camptodactyly of finger, Recurrent aphthous stomatitis, Pes cavus, Episcleritis, Skin rash, Broad...	ORPHA:575
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Short neck, Spina bifida occulta, Reduced bone mineral density, Kyphosis, Short nose	ORPHA:2983
Congenital Myopathy 19	Congenital contracture, Skeletal muscle atrophy, Micrognathia, Gait disturbance, Facial hypotonia...	OMIM:618578
Down Syndrome	Flat face, Shallow acetabular fossae, Clinodactyly, Sandal gap, Hypoplastic iliac wing, Acute meg...	OMIM:190685
Takenouchi-Kosaki Syndrome	Flared nostrils, Low-set ears, Clinodactyly, Overlapping toe, Sensorineural hearing impairment, P...	OMIM:616737
Fibrochondrogenesis	Low-set ears, Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal di...	ORPHA:2021
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Pes cavus, Microcephaly, Microphthalmia, Small for gestational age	OMIM:278780
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Short neck, Abnormal metacarpal morphology, Large hands, Aplasia/hypo...	ORPHA:2636
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Broad-based gait, Distal amyotrophy, Sandal gap, Abnormal foot morphology, Decreased/absent ankle...	ORPHA:477817
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Witteveen-Kolk Syndrome	Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Hearing im...	OMIM:613406
Myoclonic-Astatic Epilepsy	Microcephaly, Abnormal facial shape, Ataxia, Microphthalmia, Unsteady gait, Syndactyly	ORPHA:1942
Raine Syndrome	Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Large fontanelles, Ne...	OMIM:259775
Distal 17P13.1 Microdeletion Syndrome	Abnormal hand morphology, Limited elbow movement, Arachnodactyly, Generalized joint hypermobility...	ORPHA:319171
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Poland Syndrome	Small hand, Acute leukemia, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diap...	ORPHA:2911
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short distal phalanx of finger, Epistaxis, Elevated circulating hepatic transaminase concentratio...	OMIM:277450
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ...	ORPHA:163654
Frontometaphyseal Dysplasia 2	Low-set ears, Broad thumb, Decreased muscle mass, Hip contracture, Sensorineural hearing impairme...	OMIM:617137
Noonan Syndrome	Abnormality of the spleen, Micrognathia, Sensorineural hearing impairment, Radioulnar synostosis,...	ORPHA:648
Alazami Syndrome	Mild microcephaly, Triangular face, Scoliosis, Slender long bone	ORPHA:319671
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Parkes Weber Syndrome	Arteriovenous malformation, Abnormal femoral metaphysis morphology, Vascular tortuosity, Abnormal...	ORPHA:90307
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin...	OMIM:273800
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:610532
Seckel Syndrome 2	Micrognathia, Microcephaly, Primary microcephaly, Microphthalmia, Clinodactyly of the 5th finger,...	OMIM:606744
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Increased endomysial connective tissue, Flexion contracture, Arthrogryposis mu...	ORPHA:178148
Meier-Gorlin Syndrome 1	Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Prune Belly Syndrome	Congenital hip dislocation, Volvulus, Tetralogy of Fallot, Intestinal malrotation, Oligohydramnio...	ORPHA:2970
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities	OMIM:609452
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss, Ragged-red muscle fibers	OMIM:613662
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Osteopenia, Hip dislocation, Retrognathia, Intrauterine growth retardation, Ky...	OMIM:618005
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Micrognathia, Postaxial polydactyly, Microcephaly, Tapered finger, Macular hypop...	OMIM:613792
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Clinodactyly of the 5th finge...	OMIM:619736
Yuan-Harel-Lupski Syndrome	Broad-based gait, Sandal gap, Failure to thrive, Talipes valgus, Talipes equinovalgus, Gait ataxi...	OMIM:616652
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Neonatal respiratory distress, Respiratory failure	OMIM:619057
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Short nose, Retrognathia	OMIM:613670
Silver-Russell Syndrome 1	Small for gestational age, Delayed cranial suture closure, Craniofacial disproportion, Micrognath...	OMIM:180860
Ogden Syndrome	Low-set ears, High, narrow palate, Cardiogenic shock, Microretrognathia, Broad hallux, Underdevel...	ORPHA:276432
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Talipes equin...	OMIM:614816
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Left ventricular noncompaction, Ragged-red muscle fibers, Ptosis, Increased intram...	OMIM:252011
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Sclerosis of han...	ORPHA:79474
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival bleeding, Osteopenia, Low-set ears, Short toe, Bruising susceptibility, Umbilical hernia...	OMIM:225410
Acitretin/Etretinate Embryopathy	Hypoplastic nasal septum, Cupped ear, Abnormality of the calcaneus, Third degree atrioventricular...	ORPHA:40366
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Small hand, Micrognathia, Microcephaly, Microphthalmia, Short foot, Short ...	OMIM:241410
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly, Avascular necrosis of the capital femoral epiphysis	OMIM:617383
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Joubert Syndrome 37	Obesity, Lumbar hyperlordosis, Joint hypermobility, Postaxial polydactyly, Microphthalmia, Promin...	OMIM:619185
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Micrognathia, Microphthalmia, Missing ribs, Abnormal rib...	ORPHA:3301
Mgat2-Cdg	Abnormal earlobe morphology, Open mouth, Ventricular septal defect, Arrhythmia, Patent ductus art...	ORPHA:79329
Snijders Blok-Campeau Syndrome	Wide nasal bridge, Low-set ears, Umbilical hernia, Widely spaced teeth, Prominent nose, Joint hyp...	OMIM:618205
17Q24.2 Microdeletion Syndrome	Wide nasal bridge, Tooth malposition, Broad thumb, Otosclerosis, Abnormality of the ankle, Upper ...	ORPHA:529962
Congenital Atransferrinemia	Anemia, Arthritis	ORPHA:1195
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, Large face, Facial palsy secondary t...	OMIM:269500
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Atresia of the external auditory canal, ...	OMIM:146510
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Ge...	OMIM:609560
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Congenital hip dislocation, Lateral ventricle dilatation, Long philtrum, Abnormal h...	ORPHA:457279
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Hearing impairment, Abnormal he...	ORPHA:284169
Stevenson-Carey Syndrome	Joint contracture of the hand, Microphthalmia, Camptodactyly, Hip dysplasia, Scoliosis	OMIM:611961
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Andersen-Tawil Syndrome	Low-set ears, Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes...	ORPHA:37553
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Aortic root aneurysm, Congenital diaphragmatic hernia, Ventricular septal defect, ...	OMIM:617602
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Hea...	OMIM:610682
Distal Deletion 19P	Hypoplasia of the maxilla, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly ...	ORPHA:96129
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Hearing impairment, Micrognathia, Cleft soft palate, Sensorineural hea...	OMIM:616331
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co...	ORPHA:3097
Abetalipoproteinemia	Peripheral demyelination, CNS demyelination	OMIM:200100
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Depressed nasal tip, Micro...	ORPHA:2863
Alkaptonuria	Joint dislocation, Calcification of cartilage, Joint stiffness, Hemolytic anemia, Thickened Achil...	ORPHA:56
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery...	ORPHA:90065
Musculocontractural Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Hearing impairment, Decreased muscle mass, Abnormal mesentery morpholog...	ORPHA:2953
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Retrognathia, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth ret...	OMIM:612938
Microphthalmia, Syndromic 8	Microcephaly, Split foot, Microphthalmia	OMIM:601349
Robinow Syndrome, Autosomal Recessive 2	Low-set ears, Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Bicuspid aortic valve, ...	OMIM:618529
Developmental And Epileptic Encephalopathy 89	Flat face, Microretrognathia, Talipes equinovarus, Limb undergrowth, Macrocephaly, Flexion contra...	OMIM:619124
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Failure to thrive, Lymphopenia, Skin rash, Splenomegaly, Myositis, Arthritis, Si...	OMIM:617591
Noonan Syndrome 2	Low-set ears, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic val...	OMIM:605275
Gm1-Gangliosidosis, Type I	Depressed nasal ridge, Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardio...	OMIM:230500
Fliedner-Zweier Syndrome	Long philtrum, Bulbous nose, High palate, Ventricular septal defect, Joint hypermobility, Bicuspi...	OMIM:620511
Temtamy Syndrome	Micrognathia, Talipes equinovarus, Pes planus, Brachydactyly, Long face, Microphthalmia, Short 2n...	OMIM:218340
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Pectus carinatum, Aortic root aneurysm, Open mouth, Mitral regurgitation, Ventricular septal defe...	OMIM:301039
Trigonocephaly 1	Wide nasal bridge, Lumbar hemivertebrae, Metopic synostosis, Craniosynostosis, Short nose	OMIM:190440
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Amyotrophic lateral sclerosis, C...	ORPHA:52430
Spinal Dysplasia, Anhalt Type	Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s...	OMIM:601344
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Interrupted aortic arch, Craniofacial hyperostosis, Abnormal cartilage mor...	ORPHA:2396
Heterotaxy, Visceral, 5, Autosomal	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef...	OMIM:270100
Cerebrocostomandibular Syndrome	Low-set ears, Carious teeth, Micrognathia, Bell-shaped thorax, Cleft soft palate, Ventricular sep...	OMIM:117650
20Q13.33 Microdeletion Syndrome	Small for gestational age, Prominent crus of helix, Failure to thrive in infancy, Talipes equinov...	ORPHA:261311
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Micromelia, Low-set, posteriorly rotated ears, Intrauterine growth retard...	ORPHA:2772
Wyburn-Mason Syndrome	Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ...	ORPHA:53719
Antley-Bixler Syndrome	Choanal atresia, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Delayed cranial sutur...	ORPHA:83
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Carious teeth, Periodontitis, Narrow mouth, Mitral valve prol...	ORPHA:286
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractu...	ORPHA:793
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Clinodactyly of the 5th finger, Rocker bottom foot, Delayed eruption of permane...	OMIM:618506
Simpson-Golabi-Behmel Syndrome	Abnormal helix morphology, Broad thumb, Toe syndactyly, Finger syndactyly, Congenital diaphragmat...	ORPHA:373
Cerebrofacioarticular Syndrome	Caudal appendage, Bilateral choanal atresia/stenosis, Micrognathia, Narrow mouth, Irregular denti...	ORPHA:314679
Triploidy	Finger syndactyly, Micrognathia, Narrow mouth, Decreased skull ossification, Short neck, Hepatome...	ORPHA:3376
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe...	ORPHA:369929
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Recurrent upper respiratory tract infections, Optic atrophy, Contract...	ORPHA:3078
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Short toe, Widely spaced toes, Umbilical hernia, Tricuspid regurgitation, W...	ORPHA:404443
Adult-Onset Distal Myopathy Due To Vcp Mutation	Rimmed vacuoles, Necrotizing myopathy, Decreased nerve conduction velocity, Facial diplegia, Foot...	ORPHA:329478
Even-Plus Syndrome	Epiphyseal dysplasia, Depressed nasal ridge, Bifid nasal tip, Dysplasia of the femoral head, Shor...	OMIM:616854
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Narrow mouth, Arachnodactyly, Talipes equinovarus, Ulnar deviation of finger, ...	ORPHA:2215
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Axonal degeneration, Decreased number of peripheral my...	OMIM:302800
Baker-Gordon Syndrome	Prominent nasal tip, Scoliosis, Short nose, Joint hypermobility	OMIM:618218
Bartsocas-Papas Syndrome 2	Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Absent distal phalanges, 2-5 f...	OMIM:619339
Severe Congenital Nemaline Myopathy	Large fontanelles, Facial diplegia, Adducted thumb, Multiple prenatal fractures, Flexion contract...	ORPHA:171430
Hereditary Continuous Muscle Fiber Activity	Type 1 muscle fiber predominance, Congenital diaphragmatic hernia	ORPHA:972
Hallermann-Streiff Syndrome	Thin ribs, Decreased number of sternal ossification centers, Recurrent pneumonia, Small for gesta...	OMIM:234100
Intellectual Developmental Disorder, Autosomal Dominant 43	Wide nasal bridge, Umbilical hernia, Anteverted nares, Prominent nasal bridge, Narrow mouth, Ging...	OMIM:616977
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ragged-red muscle fibers, Myopathy	OMIM:618242
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Chromosome 16Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad hallux, Micrognathia, Wormian bones, Short neck,...	OMIM:614541
X Small Rings	Toe syndactyly, Aortic root aneurysm, Long philtrum, Upper limb undergrowth, Anteverted nares, Ol...	ORPHA:96201
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Vertigo, Transient ischemic attack, Stroke, Intracranial hemorrhage	ORPHA:140989
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Lumbar hyperlordosis, Joint hypermobility, Absent nasal bridge, Short ne...	ORPHA:171866
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Scapular muscle atrophy, Talipes equinovarus, Peroneal muscle weakness, Calf ...	OMIM:611588
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Telangiectasia, Hereditary Benign	Diffuse telangiectasia, Vascular dilatation	OMIM:187260
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Prominent nose, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation,...	ORPHA:453510
Chromosome 2Q37 Deletion Syndrome	Depressed nasal bridge, Broad nasal tip, Short toe, Eczematoid dermatitis, Type E brachydactyly, ...	OMIM:600430
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Splenomegaly, Cachexia, Brachy...	ORPHA:1133
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal helix morphology, Hearing impairment, Open mouth, Ventricular septal defect, Bicuspid ao...	ORPHA:453499
Meckel Syndrome, Type 8	Anophthalmia, Polydactyly, Talipes equinovarus, Microcephaly, Microphthalmia	OMIM:613885
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Chronic axonal neuropathy, Motor conduction block, Demyelina...	ORPHA:99948
Recombinant 8 Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Micrognathia, Patellar aplasia, V...	ORPHA:96167
Poland Syndrome	Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ...	OMIM:173800
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Broad thumb, Short distal phalanx of the thumb, Joint contracture ...	ORPHA:1826
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Narrow foramen obturatorium, Osteolysis, Arthritis	ORPHA:220393
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Short thumb, Retrognathia, Tracheomalacia, Tetralogy of Fal...	OMIM:612561
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture	OMIM:607855
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Finger syndactyly, Clinodactyly, Lateral ventricle dilatation, Overlapping toe, Ove...	ORPHA:464738
Jansen-De Vries Syndrome	Low-set ears, Small hand, Anteverted nares, Wide mouth, Ventricular septal defect, Thin upper lip...	OMIM:617450
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers	ORPHA:101111
Amish Nemaline Myopathy	Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro...	ORPHA:98902
7Q31 Microdeletion Syndrome	Low-set ears, Hypoplasia of the maxilla, Skeletal muscle atrophy, Clinodactyly of the 2nd finger,...	ORPHA:251061
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Elbow flexion contracture, Pes planus, Triangular face, Osteoporosis, Flexion contrac...	OMIM:614438
Congenital Factor Xiii Deficiency	Gingival bleeding, Inflammation of the large intestine, Prolonged bleeding after dental extractio...	ORPHA:331
Hypertelorism, Microtia, Facial Clefting Syndrome	Short 5th finger, Abnormal vertebral morphology, Tessier cleft, Broad nasal tip, Conductive heari...	OMIM:239800
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Low-set ears, Carpal synostosis, Micr...	OMIM:218600
Braddock-Carey Syndrome 1	Wide nasal bridge, Small hand, Clinodactyly, Anteriorly placed anus, Anteverted nares, Aortic val...	OMIM:619980
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Short 5th metacarpal, Abnormal hand morphology, Pseudocoarctation of the aorta, Bicuspid aortic v...	ORPHA:228190
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Flared metaphysis, Cranial hyperostosis, Micrognathia, Decreased osteoclast count,...	OMIM:259720
Cebalid Syndrome	Flat face, Congenital diaphragmatic hernia	OMIM:618774
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Optic atrophy, Broad columella, Delayed cranial suture closure, Overlapping fi...	OMIM:619383
Autosomal Recessive Malignant Osteopetrosis	Hearing impairment, Bowing of the long bones, Hepatomegaly, Abnormal metaphysis morphology, Otiti...	ORPHA:667
Lowry-Maclean Syndrome	Osteopenia, Hypoplasia of the maxilla, Widely patent coronal suture, Choanal atresia, Retrognathi...	ORPHA:2409
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl...	ORPHA:254864
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers	OMIM:616794
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Low-set ears, Prominent nasal bridge, Oligohydramnios, Increased nuchal translucency, Thin upper ...	OMIM:618480
Hennekam Syndrome	Flat face, Erysipelas, Finger syndactyly, Abnormal foot morphology, Camptodactyly of finger, Lymp...	ORPHA:2136
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Hypoplasia of the...	ORPHA:2256
Cole-Carpenter Syndrome 1	Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Orbital craniosynostosis, Microg...	OMIM:112240
Aspartylglucosaminuria	Abnormal vertebral morphology, Large face, Joint stiffness, Abnormal cortical bone morphology, Sp...	ORPHA:93
Spinocerebellar Ataxia 28	Ptosis, Ragged-red muscle fibers, Lower limb hypertonia	OMIM:610246
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly, Retrognathia, Promin...	ORPHA:391372
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial ...	OMIM:615503
Noonan Syndrome 7	Low-set ears, Depressed nasal bridge, Pectus carinatum, Hypertrophic cardiomyopathy, Large earlob...	OMIM:613706
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Mandibular prognathia, Kyphosis, Short nose	ORPHA:2429
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,...	ORPHA:3429
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Thoracic hypoplasia, Thoracic dysplasia, Cholestasis, Genu val...	OMIM:615630
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Axonal degeneration, Dec...	OMIM:615490
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va...	OMIM:604381
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98863
Idiopathic Congenital Hypothyroidism	Depressed nasal bridge, Abnormal epiphysis morphology, Large posterior fontanelle, Delayed crania...	ORPHA:95717
Congenital Factor Ii Deficiency	Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ...	ORPHA:325
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Decreased muscle mass, Long hallux, Talipes equinovarus, Short neck, Abnormal pinna morphology, H...	OMIM:309583
Peters-Plus Syndrome	Low-set ears, Square pelvis bone, Hearing impairment, Micrognathia, Short lingual frenulum, Ventr...	OMIM:261540
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98853
Chromosome 15Q25 Deletion Syndrome	Low-set ears, Polysplenia, Cleft upper lip, Coronary artery fistula, Intrauterine growth retardat...	OMIM:614294
Costello Syndrome	Depressed nasal bridge, Ulnar deviation of finger, Abnormality of the dentition, Thick lower lip ...	ORPHA:3071
Ohdo Syndrome, X-Linked	Short thumb, Clinodactyly, Overlapping toe, Micrognathia, Long thumb, Joint hypermobility, Decrea...	OMIM:300895
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Hearing impairment, Micrognathia, Congenital diaphragmatic hernia,...	ORPHA:280
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Fatiguable ...	ORPHA:206569
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Ataxia, Platyspondyly, Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyse...	OMIM:610442
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:453504
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Wide mouth, Ventricular septal defect, Short neck, Atrial septal def...	OMIM:615279
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Low-set ears, Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip c...	OMIM:620369
Pfeiffer Syndrome Type 2	Deviation of the thumb, Choanal atresia, Small hand, Toe syndactyly, Limitation of joint mobility...	ORPHA:93259
Kid Syndrome	Posterior blepharitis, Psoriasiform dermatitis, Delayed pubic bone ossification, Recurrent skin i...	ORPHA:477
Noonan Syndrome 4	Low-set ears, Depressed nasal bridge, Abnormal bleeding, Bruising susceptibility, Dental malocclu...	OMIM:610733
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Clinodactyly, Anteverted nares, Micrognathia, Joint hypermobility, Down-sloping s...	ORPHA:391408
17Q12 Microduplication Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Microphthalmia	ORPHA:261272
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Wide nasal bridge, Depressed nasal ridge, Broad thumb, Finger syndactyly, Delayed cranial suture ...	ORPHA:2211
Insulin-Like Growth Factor I, Resistance To	Small hand, Sandal gap, Clinodactyly, Short finger, Radial deviation of finger, Micrognathia, Rie...	OMIM:270450
Noonan Syndrome 5	Low-set ears, Depressed nasal bridge, Abnormal sternum morphology, Hypertrophic cardiomyopathy, W...	OMIM:611553
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N...	OMIM:245400
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Nance-Horan Syndrome	Short metacarpal, Long face, Microphthalmia	ORPHA:627
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Rhiny	Anteverted nares, Short nose	OMIM:180360
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Scoliosis, Kyphosis, Short nose	ORPHA:2598
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Abnormality of the outer ear, Small hand, Broad thumb, Micrognathia, Narrow mouth, ...	ORPHA:251028
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Conductive hearing impairment, Abnormal heart morphology, Microgna...	ORPHA:261197
Schuurs-Hoeijmakers Syndrome	Low-set ears, Downturned corners of mouth, Volvulus, Diastema, Bulbous nose, Patent foramen ovale...	OMIM:615009
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal hip bone morphology, Microcephaly, Facial asymmetry, Triangular face, Genu varum	ORPHA:1110
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Short thumb, Prominent nasal bridge, Limited elbow extension and supination, J...	ORPHA:401935
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal clavicle morphology, Malar prominence, Abnormal hip bone morphology, Micro...	ORPHA:2522
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Spastic Paraplegia Type 7	Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, ...	ORPHA:99013
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flared nostrils, Anteverted nares, Respiratory failure, Wide nasal bridge	OMIM:312170
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Dislocated radial head	ORPHA:2975
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Icf Syndrome	Flat face, Lymphopenia, Micrognathia, Macrocephaly, Anemia, Macroglossia, Abnormality of neutrophils	ORPHA:2268
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Sensorineural hearing imp...	OMIM:305450
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee flexion cont...	OMIM:604416
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa...	OMIM:123320
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy	OMIM:151800
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Widely spaced teeth, Herniation of intervertebral nucle...	OMIM:601216
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Neonatal respiratory distress, Sacral dimple, Bulbous nose, Prominent nas...	OMIM:618828
Miller-Dieker Syndrome	Sacral dimple, Clinodactyly of the 5th finger, Anteverted nares, Short nose	ORPHA:531
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Limitation of joint mobility, ...	ORPHA:95699
Kleefstra Syndrome	Limitation of joint mobility, Hearing impairment, Ventricular septal defect, Agenesis of corpus c...	ORPHA:261494
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Persistent open anterior fontanelle, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Ad...	OMIM:615539
Curry-Jones Syndrome	Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot ...	OMIM:601707
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Decreased nerve conduction velocity, Talipes equinovarus, Ventilator dep...	OMIM:604320
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Aganglionic megaco...	OMIM:613870
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Cupped ear, Sandal gap, Retrognathia, Umbilical hernia, Lateral ventricle dilatation, Micrognathi...	OMIM:618914
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Bethlem Muscular Dystrophy	Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter...	ORPHA:610
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Abnormal form of the vertebral bodies, Hyperlordosis, Brac...	ORPHA:3218
Cockayne Syndrome Type 3	Carious teeth, Aortic root aneurysm, Hepatomegaly, Macrotia, Vascular calcification, Narrow nose,...	ORPHA:90324
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Oculodentodigital Dysplasia	Carious teeth, Clinodactyly, Joint contracture of the 5th finger, Arrhythmia, Atrial septal defec...	OMIM:164200
Non-Functioning Paraganglioma	Conductive hearing impairment, Sinus tachycardia, Congestive heart failure, Positive regitine blo...	ORPHA:94080
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Abnor...	ORPHA:2306
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Abnormal earlobe morphology, Ankyloglossia, Narrow mouth, Ventricular septal defe...	ORPHA:261330
Harel-Yoon Syndrome	Optic atrophy, Mandibular prognathia, Micrognathia, Hip dysplasia, Scoliosis, Short nose	OMIM:617183
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Agenesis of corp...	ORPHA:2658
Trisomy 20P	Platyspondyly, Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger,...	ORPHA:261318
Acrocallosal Syndrome	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Hearing impairment, ...	OMIM:200990
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Low-set ears, Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Short neck, ...	OMIM:617506
Ring Chromosome 10 Syndrome	Sandal gap, Micrognathia, Cachexia, Microphthalmia, Tapered finger	ORPHA:1438
Abetal34V Amyloidosis	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324703
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin...	OMIM:620300
Metachromatic Leukodystrophy	Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity	OMIM:250100
Mosaic Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge...	ORPHA:99228
Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge...	ORPHA:99226
Turner Syndrome	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge...	ORPHA:99413
Multiple Acyl-Coa Dehydrogenase Deficiency	Depressed nasal bridge, Elevated circulating hepatic transaminase concentration, Skeletal muscle ...	ORPHA:26791
Silver-Russell Syndrome 4	Mild microcephaly, Triangular face, Small for gestational age, Decreased body weight	OMIM:618907
Cutis Laxa, Autosomal Recessive, Type Ib	Low-set ears, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Congenital dia...	OMIM:614437
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Peters Plus Syndrome	Toe syndactyly, Micrognathia, Short neck, Anal atresia, Short foot, Patent ductus arteriosus, Sho...	ORPHA:709
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Microcephaly, Tapered finger, Short humerus, Short femur	OMIM:618367
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Low-set ears, Clinodactyly, Hearing impairment, Long hallux, Overlapping t...	OMIM:618164
Aarskog-Scott Syndrome	Short 5th finger, Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the odontoid proces...	OMIM:305400
Alg1-Cdg	Respiratory failure, Scoliosis, Limitation of joint mobility, Kyphosis	ORPHA:79327
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Micrognathia, Death in early adulthood, Short clavicles, Acrooste...	OMIM:608612
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Progressive sensorineural hearing impairment, Congestive heart failure, Stroke-like episode, Ragg...	OMIM:540000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Depressed nasal bridge, Retrognathia, Umbilical hernia, Overlapping toe, Anteverted nares, Large ...	ORPHA:254528
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, Syndactyly, Hypoplasia of the maxilla, Broad nasal tip,...	OMIM:252100
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hearing impairment, Medial calcification of large arteries, Osteomalacia...	ORPHA:51608
Occipital Horn Syndrome	Platyspondyly, Narrow face, Kyphosis, Persistent open anterior fontanelle, Broad ribs, Genu valgu...	OMIM:304150
W Syndrome	Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Cubitus valgus, Pes planus, Hypoplasia...	ORPHA:2804
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ...	OMIM:605376
Distal Deletion 15Q	Low-set ears, Small hand, Hearing impairment, Genu valgum, Micrognathia, Congenital diaphragmatic...	ORPHA:1596
Osteogenesis Imperfecta, Type I	Osteopenia, Dentinogenesis imperfecta, Otosclerosis, Bruising susceptibility, Hearing impairment,...	OMIM:166200
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Cerebral Amyloid Angiopathy, Cst3-Related	Stroke, Intracranial hemorrhage, Cerebral hemorrhage	OMIM:105150
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Bruising susceptibility, Lymphedema, Vertigo, Splenomegaly, Sensorineural h...	ORPHA:3226
Holoprosencephaly	Abnormality of the spleen, Encephalocele, Congenital diaphragmatic hernia, Ventricular septal def...	ORPHA:2162
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98855
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal arth...	OMIM:620011
Williams Syndrome	Synostosis of joints, Carious teeth, Open bite, Genu valgum, Micrognathia, Mitral regurgitation, ...	ORPHA:904
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Micrognathia, Sensorineural hearing impairment, Arachnod...	ORPHA:314588
49,Xxxxy Syndrome	Carious teeth, Elbow dislocation, Open bite, Radioulnar synostosis, Talipes equinovarus, Short ne...	ORPHA:96264
Schnitzler Syndrome	Leukocytosis, Skin rash, Splenomegaly, Arthritis, Anemia, Increased bone mineral density	ORPHA:37748
Diamond-Blackfan Anemia 7	Osteopenia, Choanal atresia, Small hypothenar eminence, Secundum atrial septal defect, Short thum...	OMIM:612562
Skin Creases, Congenital Symmetric Circumferential, 2	Flat face, Micrognathia, 2-3 toe syndactyly, Microcephaly, Pes planus, Long fingers, Microphthalm...	OMIM:616734
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Prominent nasal bridge, Joint hypermobility, Abnormality of the elbow	ORPHA:2220
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Recurrent otitis...	OMIM:620570
Brittle Cornea Syndrome	Abnormality of the dentition, Abnormal epiphysis morphology, Bruising susceptibility, Conductive ...	ORPHA:90354
Relapsing Polychondritis	Limitation of joint mobility, Hepatitis, Anteriorly placed anus, Vertigo, Large vessel vasculitis...	ORPHA:728
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Unilateral microphthalmos, Splenomegaly, Osteopetrosis, Thrombocytopenia, Macr...	OMIM:615085
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo...	ORPHA:326
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Increased variability in muscle fiber diameter, Ankle flexion contracture, Failure to thrive, Elb...	OMIM:619461
Mitochondrial Dna Depletion Syndrome 11	Ragged-red muscle fibers, Ptosis, Proximal amyotrophy, Facial palsy, Generalized amyotrophy	OMIM:615084
Zimmermann-Laband Syndrome 1	Low-set ears, Aortic root aneurysm, Hearing impairment, Hepatomegaly, High palate, Gingival fibro...	OMIM:135500
Meckel Syndrome 14	Postaxial foot polydactyly, Microretrognathia, Micrognathia, Decreased calvarial ossification, Bo...	OMIM:619879
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Low-set ears, Hearing impairment, Recurrent otitis media, Mitral regurgitat...	OMIM:252940
Keutel Syndrome	Hearing impairment, Recurrent otitis media, Ventricular septal defect, Short hallux, Costal carti...	OMIM:245150
Congenital Muscular Dystrophy Due To Lmna Mutation	Narrow chest, Skeletal muscle atrophy, Limitation of joint mobility, Congestive heart failure, My...	ORPHA:157973
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Anosmia, Hypoplasia of the zygomatic bone, Joint stiffness, Genu ...	ORPHA:1295
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Muscular dystrophy, Joint contracture of the hand, Elbow flexion contracture, Calf muscle hypertr...	OMIM:608840
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Decreased muscle mass, Abnormal antihelix morphology, Thoracolumbar scoliosis, Patellar subluxati...	ORPHA:3041
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Death in infancy	OMIM:616277
Autosomal Dominant Spondylocostal Dysostosis	Wide nasal bridge, Abnormal sacrum morphology, Abnormal rib morphology, Intrauterine growth retar...	ORPHA:1797
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Arthrogryposis multiplex congenita, Respiratory failure, Degeneration of anterior ...	ORPHA:2254
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Hearing impairment, Pulmonic stenosis	OMIM:178651
8P Inverted Duplication/Deletion Syndrome	Micrognathia, Agenesis of corpus callosum, Short neck, Everted lower lip vermilion, Dextrocardia,...	ORPHA:96092
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Cleft palate, Hydrocephalus, Cleft upper lip	ORPHA:398189
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Optic atrophy, Short nose, Micrognathia, Acetabular dysplasia, Distal art...	OMIM:619833
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Skeletal muscle atrophy, Cherry red spot of the macula, Sp...	OMIM:230650
Clark-Baraitser Syndrome	Depressed nasal bridge, Sandal gap, Clinodactyly, Anteverted nares, Low hanging columella, Short ...	OMIM:617752
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Joint swelling, Intr...	ORPHA:98878
Smith-Lemli-Opitz Syndrome	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis media, Overlapping...	OMIM:270400
Felty Syndrome	Recurrent pneumonia, Limitation of joint mobility, Abnormal joint morphology, Abnormal lymphocyte...	ORPHA:47612
Coffin-Siris Syndrome 4	Hearing impairment, Everted upper lip vermilion, Ventricular septal defect, Agenesis of corpus ca...	OMIM:614609
Branchioskeletogenital Syndrome	Flat face, Abnormality of the vertebral spinous processes, Upper limb peromelia, Microcephaly, Am...	ORPHA:1299
Schimke Immuno-Osseous Dysplasia	Shallow acetabular fossae, Abnormal intestine morphology, Short neck, Ovoid vertebral bodies, Bro...	ORPHA:1830
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange...	OMIM:618618
Alkaptonuria	Aortic valve calcification, Limited hip movement, Intervertebral disk degeneration, Thickened Ach...	OMIM:203500
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Onion bulb formation	OMIM:614455
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Carious teeth, Delayed cranial suture closure, Decreased skull ossification, Stenosis...	ORPHA:93324
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Optic atrophy, Erlenmeyer flask deformity of the femurs,...	OMIM:618476
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atopic dermatitis, Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricu...	OMIM:614262
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart...	ORPHA:99901
Saethre-Chotzen Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Optic atrophy, Finger syndactyly,...	ORPHA:794
Rubinstein-Taybi Syndrome 1	Low-set ears, Broad thumb, Hearing impairment, Delayed cranial suture closure, Hypoplastic iliac ...	OMIM:180849
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Dysp...	OMIM:265000
Glossopharyngeal Neuralgia	Abnormal palate morphology, Ear pain, Abnormality of the cervical spine, Syncope, Vascular dilata...	ORPHA:221098
Ayme-Gripp Syndrome	Flat face, Craniofacial asymmetry, Delayed cranial suture closure, Radioulnar synostosis, Brachyd...	OMIM:601088
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormal foot morphology, Joint swelling, Generalized joint hypermobility, Phalangeal...	ORPHA:287
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ...	ORPHA:59135
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Keratitis, Camptodactyly of finger, Abnormal hand morphol...	ORPHA:464
Hypermobile Ehlers-Danlos Syndrome	Limitation of joint mobility, Elbow dislocation, Joint dislocation, Abnormal foot morphology, Ost...	ORPHA:285
4Q21 Microdeletion Syndrome	Depressed nasal bridge, Small hand, Toe syndactyly, Micromelia, Large fontanelles, Short neck, Sh...	ORPHA:238750
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Wide nasal bridge, Carious teeth, Downturned corners of mouth, Multiple muscular ventricular sept...	OMIM:620070
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Kyphosis, Increased susceptibility to f...	OMIM:166220
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation, Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial...	OMIM:263520
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Boudin-Mortier Syndrome	Aortic root aneurysm, Clinodactyly, Pseudoepiphysis of the 1st metacarpal, Long hallux, Mallet fi...	OMIM:619543
16Q24.3 Microdeletion Syndrome	Scoliosis, Increased mean corpuscular volume, Kyphosis, Micrognathia, Biparietal narrowing, Throm...	ORPHA:261250
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Low-set ears, Microretrognathia, Hypoplasia of the zygomatic bone, Sacral dimp...	OMIM:613603
Christian Syndrome	Wide nasal bridge, Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Short middle phal...	OMIM:309620
Coccidioidomycosis	Morbilliform rash, Abnormality of the spleen, Abscess, Abnormal metacarpal morphology, Erythema n...	ORPHA:228123
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Micrognathia, Polydactyly, Clinodactyly of the 5th finger, Relati...	ORPHA:397590
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp...	ORPHA:1330
Cranioectodermal Dysplasia 1	Low-set ears, Clinodactyly, Anodontia, Bicuspid aortic valve, Broad distal phalanges of all finge...	OMIM:218330
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu...	OMIM:620285
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Short nose, Wrist hypermobility, Narrow nasal bridge, Joint hypermobility, Hip dysplasia, Finger ...	ORPHA:544503
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Clinodactyly, Lymphopenia, Pes cavus, Dysmetria, Microcephaly, Limb undergrowth...	OMIM:616541
Van Maldergem Syndrome 1	Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Dental malocclusion, Tracheomalacia, Cl...	OMIM:601390
Xq12-Q13.3 Duplication Syndrome	Eczematoid dermatitis, Cutaneous finger syndactyly, 2-3 toe syndactyly, Microcephaly, Triangular ...	ORPHA:314389
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Rheumatoid Arthritis	Digital flexor tenosynovitis, Rheumatoid arthritis, Polyarticular arthritis, Joint stiffness, Int...	OMIM:180300
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Short thumb, Ectrodactyly, Elbow dislocation, Oligodactyly, Abnormality of the...	ORPHA:2538
Spondylo-Ocular Syndrome	Platyspondyly, Joint hypermobility, Pes planus, Aplasia/Hypoplasia of the lens, Microphthalmia, F...	ORPHA:85194
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Long philtrum, Thick lower lip vermilion, Tricuspid regurgitation, Microgna...	ORPHA:555877
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, Encephalocele, Abnormality of the middle ear, High palate,...	ORPHA:861
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Arrhythmia, Purpura, Chronic otitis media...	ORPHA:906
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert...	ORPHA:119
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Aortic root aneurysm, Hearing impairment, Lateral ventricle dilatation, Ventricular...	OMIM:607872
Familial Hyperaldosteronism Type Iii	Epistaxis, Tinnitus, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage...	ORPHA:251274
Sotos Syndrome	Narrow face, Long metacarpals, Long foot, Genu valgum, Otitis media, Joint hypermobility, Increas...	OMIM:117550
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Hearing impairment, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral...	OMIM:602782
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Talipes equinovarus, Vascular dilatation, Hip dysplasia, Clinodactyly of the 5t...	OMIM:617219
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Congenital diaphragmatic hernia, Ven...	ORPHA:818
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Abdominal situs inversus, Atrioventricular canal defect, Micrognathia, Ventricular sep...	OMIM:619123
Meckel Syndrome, Type 5	Bowing of the long bones, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly	OMIM:611561
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased...	OMIM:310300
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Flat face, Keratitis, Recurrent otitis media, Micrognathia, Round face, Conjunctivitis	OMIM:602562
Classic Multiminicore Myopathy	Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Increased muscle lipid content, Mult...	ORPHA:324604
1Q21.1 Microdeletion Syndrome	Broad thumb, Toe syndactyly, Failure to thrive, Clinodactyly of the 5th finger, Joint hypermobili...	ORPHA:250989
3Mc Syndrome 1	Lambdoidal craniosynostosis, Caudal appendage, Hearing impairment, Ventricular septal defect, Rad...	OMIM:257920
Williams-Beuren Syndrome	Recurrent otitis media, Open mouth, Mitral regurgitation, Mitral valve prolapse, Ventricular sept...	OMIM:194050
Maternal Uniparental Disomy Of Chromosome 6	Triangular face, Eczematoid dermatitis, Slender long bone, Thrombocytopenia	ORPHA:96181
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Failure to thrive, Absent hand, Leukopenia, Mi...	ORPHA:974
Contractures-Developmental Delay-Pierre Robin Syndrome	Overlapping toe, Micrognathia, Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Thorac...	ORPHA:436003
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Microcephaly, Hyperlord...	ORPHA:568
Cerebral Cavernous Malformations 2	Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage	OMIM:603284
Leopard Syndrome 1	Low-set ears, Mitral valve prolapse, Limited elbow movement, Sensorineural hearing impairment, Sh...	OMIM:151100
Bartsocas-Papas Syndrome	Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Under...	ORPHA:1234
Short Syndrome	Radial deviation of finger, Slender long bone, Clinodactyly, Micrognathia, Rieger anomaly, Joint ...	OMIM:269880
Noonan Syndrome 8	Low-set ears, Eczematoid dermatitis, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pl...	OMIM:615355
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the...	ORPHA:1834
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Scoliosis, Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Microphthalmia	ORPHA:2432
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Alg12-Cdg	Biventricular hypertrophy, Overlapping fingers, Micrognathia, Sensorineural hearing impairment, T...	ORPHA:79324
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Wormian ...	OMIM:259410
Cat Eye Syndrome	Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Atrial septal defect, ...	OMIM:115470
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Non-midline cleft o...	ORPHA:887
Neuropathy, Hereditary Sensory And Autonomic, Type V	Painless fractures due to injury, Osteomyelitis, Arthropathy, Osteoarthritis, Septic arthritis, R...	OMIM:608654
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Abnormal cerebral vascular morphology, Peripheral arteriovenous fistula	ORPHA:1053
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Morbilliform rash, Erythema nodosum, Hepatomegaly, Tachycardia, Jaundice, Purp...	ORPHA:99827
Congenital Varicella Syndrome	Microcephaly, Micromelia, Microphthalmia	ORPHA:291
Atelis Syndrome 2	Low-set ears, Kyphosis, Clinodactyly, Downturned corners of mouth, Diastema, Sacral dimple, Bulbo...	OMIM:620185
Thoracoabdominal Syndrome	Cleft upper lip, Congenital diaphragmatic hernia, Transposition of the great arteries, Hydrocepha...	OMIM:313850
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Hearing impairment, Dilatation of the cerebral artery, Limb musc...	OMIM:232300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ...	OMIM:601457
Coffin-Siris Syndrome 6	Depressed nasal bridge, Broad nasal tip, Clinodactyly, Retrognathia, Micrognathia, Kyphoscoliosis...	OMIM:617808
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Small hand, Failure to thrive, 2-4 toe cutaneous syndac...	OMIM:257850
Peroxisome Biogenesis Disorder 4A (Zellweger)	Depressed nasal bridge, Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Hereditary Motor And Sensory Neuropathy, Type Iic	Down-sloping shoulders, Decreased distal sensory nerve action potential, Intercostal muscle weakn...	OMIM:606071
Lowry-Wood Syndrome	Epiphyseal dysplasia, Platyspondyly, Abnormal epiphysis morphology, Elbow dislocation, Irregular ...	ORPHA:1824
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Narrow mouth, ...	ORPHA:138
Zttk Syndrome	Low-set ears, Small hand, Absent gallbladder, Narrow mouth, Ventricular septal defect, Atrial sep...	OMIM:617140
22Q11.2 Deletion Syndrome	Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Narrow mouth, Ventricular septal d...	ORPHA:567
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Elbow flexion contracture, Facial diplegia, Multiple joint contrac...	ORPHA:70
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Pancytopenia, Microphthalmia, Microcephaly, Anemia, Reticulocytopenia,...	OMIM:600901
48,Xxxy Syndrome	Carious teeth, Elbow dislocation, Open bite, Radioulnar synostosis, Talipes equinovarus, Short ne...	ORPHA:96263
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Anteverted nares, Micrognathia, D...	OMIM:619356
Weill-Marchesani Syndrome	Aortic valve stenosis, Limitation of joint mobility, Short thumb, Mitral regurgitation, Ventricul...	ORPHA:3449
Bresek Syndrome	Microcephaly, Hemivertebrae, Microphthalmia, Postaxial hand polydactyly, Scoliosis, Optic nerve h...	ORPHA:85284
Dracunculiasis	Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc...	ORPHA:231
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Toe syndactyly, Abnormal form of the vertebral bodies,...	ORPHA:819
X-Linked Charcot-Marie-Tooth Disease Type 5	Pes cavus, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Skeletal muscle hypertrophy	ORPHA:99014
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Gaucher Disease	Splenic infarction, Osteopenia, Joint dislocation, Hepatitis, Pathologic fracture, Osteomyelitis,...	ORPHA:355
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Monosomy 13Q34	Hematochezia, Epistaxis, Postaxial foot polydactyly, Broad nasal tip, Abnormal earlobe morphology...	ORPHA:96168
Squalene Synthase Deficiency	Low-set ears, Depressed nasal bridge, Slender long bone, Retrognathia, Elbow flexion contracture,...	OMIM:618156
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar...	OMIM:613834
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Prominent scalp veins, Cutaneous finger syndactyly, Micrognathia,...	OMIM:151050
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Congenital diaphragmatic hernia, Vertebral segmentation defect, Talipes equinovarus, ...	OMIM:612530
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Toe syndactyly, Clinodactyly, Atresia of the external auditory canal, Velopharyngea...	OMIM:154400
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Malar flattening, Wormian bones, Short nose, Craniosynostosis, Wide anterior fo...	OMIM:601853
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Coronal craniosynostosis, Small hand, Depressed nasal bridge, Natal tooth, Ant...	OMIM:145420
Peho Syndrome	Peripheral dysmyelination, Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia	OMIM:260565
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, Flat face, Prominent crus of helix, 3-4 toe syndact...	ORPHA:1449
Cornelia De Lange Syndrome 1	Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, Sensorine...	OMIM:122470
Au-Kline Syndrome	Aortic root aneurysm, Overlapping toe, Open mouth, Sensorineural hearing impairment, Thoracolumba...	OMIM:616580
Mosaic Trisomy 8	Limitation of joint mobility, Hearing impairment, Micrognathia, Patellar aplasia, Abnormal antihe...	ORPHA:96061
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Pectus carinatum, Broad nasal tip, Hearing impairment, Abnormal sternum morphology, Long philtrum...	ORPHA:137634
Abeta Amyloidosis, Iowa Type	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324708
Dextrocardia	Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal rib m...	ORPHA:1666
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Low-set ears, Toe syndactyly, Elevated circulating hepatic transaminase concentrat...	OMIM:618958
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ...	ORPHA:958
Meier-Gorlin Syndrome 7	Low-set ears, Hearing impairment, Narrow mouth, Aplasia/Hypoplasia of the patella, Ventricular se...	OMIM:617063
Factor Vii Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction...	OMIM:227500
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Volvulus, Intestinal malrotation, Bulbous nose, Overlapping toe, Ventricular septal defect, Hiatu...	OMIM:616682
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Cleft lip, Clinodactyly, Edema, Eczematoid dermatitis, Micrognathia, Part...	OMIM:618348
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Abnormal vertebr...	OMIM:600383
15q26 overgrowth syndrome	Camptodactyly of finger, Abnormal joint morphology, Micrognathia, Joint hypermobility, Arachnodac...	DECIPHER:81
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Postaxial foot polydactyly, Lower limb asymmetry, Micrognathia, 2...	ORPHA:404440
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Myopathy, Coarse facial features, Gait disturbance, Macroglossia, Skeletal muscle hypertrophy	ORPHA:2349
Van Maldergem Syndrome 2	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Osteopenia, Hypopla...	OMIM:615546
Meckel Syndrome, Type 4	Bowing of the long bones, Microcephaly, Microphthalmia, Postaxial hand polydactyly	OMIM:611134
Cardiospondylocarpofacial Syndrome	Low-set ears, Carpal synostosis, Recurrent otitis media, Mitral regurgitation, Congenital diaphra...	OMIM:157800
Craniotelencephalic Dysplasia	Craniosynostosis, Septo-optic dysplasia, Microcephaly, Microphthalmia	ORPHA:1528
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Foot dorsiflexor weakness, Ragg...	ORPHA:298
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Flat face, Microretrognathia, Pterygium, Multiple pterygia, Talipes equinovarus	OMIM:177980
Chromosome 15Q11.2 Deletion Syndrome	Slender finger, Clinodactyly, Short finger, Elbow contracture, Micrognathia, Single transverse pa...	OMIM:615656
Genitourinary And/Or Brain Malformation Syndrome	Flat face, Secondary microcephaly, Joint stiffness, Micrognathia, Kyphoscoliosis, Macrocephaly, L...	OMIM:618820
Cardiofaciocutaneous Syndrome	Genu valgum, Short neck, Atrial septal defect, High palate, Macrotia, Short nose, Lymphedema, Hyp...	ORPHA:1340
Factor Xiii, A Subunit, Deficiency Of	Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ...	OMIM:613225
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Hearing impairment, Umbilical hernia, Joint stiffne...	OMIM:252900
Wilson Disease	Proximal muscle weakness in lower limbs, Hepatitis, Failure to thrive, Difficulty walking, Pathol...	ORPHA:905
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Hearing impairment, Joint stiffness, Splenomegaly, ...	OMIM:252920
Fanconi Anemia, Complementation Group J	Short thumb, Microphthalmia	OMIM:609054
Cockayne Syndrome B	Small for gestational age, Square pelvis bone, Limitation of joint mobility, Failure to thrive, K...	OMIM:133540
Ferguson-Bonni Neurodevelopmental Syndrome	Hearing impairment, Stenosis of the external auditory canal, Micrognathia, Congenital diaphragmat...	OMIM:619699
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Bilateral microphthalmos, Joint hypermobility, Short foot, ...	OMIM:607597
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Abnormal helix morphology, Abnormal heart morphology, Palpebral ed...	OMIM:214110
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Micrognathia, Adducted thumb, Brachydactyly, Abnormality of the humerus,...	ORPHA:1794
Arboleda-Tham Syndrome	Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr...	OMIM:616268
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Intestinal pseudo-obstruction, Ventricular escape rhythm, Mitral regurgitation, B...	OMIM:616201
Costello Syndrome	Low-set ears, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Limited elbow movem...	OMIM:218040
Yunis-Varon Syndrome	Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Broad secondary al...	ORPHA:3472
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low-set ears, Depressed nasal bridge, Broad nasal tip, Kyphosis, Cupped ear, Cleft lip, Depressed...	OMIM:618223
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Madelung deformity	ORPHA:1765
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Pectus carinatum, Retrognathia, Furrowed tongue, Anteverted nares, Tented upper lip...	OMIM:616449
Silver-Russell Syndrome 5	Relative macrocephaly, Triangular face, Small for gestational age	OMIM:618908
Hemophilia B	Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist...	ORPHA:98879
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Kyphosis, Respiratory insufficiency due to muscle weakness, Respiratory failure,...	ORPHA:352447
Tyshchenko Syndrome	Low-set ears, High, narrow palate, Narrow chest, Narrow palate, Intrauterine growth retardation, ...	OMIM:615102
Microphthalmia, Syndromic 2	Aortic valve stenosis, Hand clenching, Mitral valve prolapse, Contracture of the proximal interph...	OMIM:300166
Mosaic Variegated Aneuploidy Syndrome 1	Low-set ears, Micrognathia, Agenesis of corpus callosum, Short neck, Atrial septal defect, Duoden...	OMIM:257300
Monosomy 18P	Micrognathia, Kyphoscoliosis, Microcephaly, Brachydactyly, Microphthalmia	ORPHA:1598
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Micrognathia, Joint hypermobility, C...	OMIM:249620
Hypotonia-Cystinuria Syndrome	Failure to thrive, Long eyelashes, Ragged-red muscle fibers, Ptosis, Facial palsy	OMIM:606407
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Depressed nasal bridge, Anteverted nares, Ankle clonus, ...	OMIM:615398
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Dysplasia of the femoral h...	OMIM:619127
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Decreased motor nerve con...	OMIM:162400
Bainbridge-Ropers Syndrome	Wide nasal bridge, Hand clenching, Depressed nasal bridge, Broad nasal tip, Retrognathia, Underde...	OMIM:615485
X-Linked Mandibulofacial Dysostosis	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear...	ORPHA:1131
Nievergelt Syndrome	Genu valgum, Radioulnar synostosis, Talipes equinovarus, Radial head subluxation, Metatarsus addu...	OMIM:163400
Rere-Related Neurodevelopmental Syndrome	Micrognathia, Abnormal facial shape, Microphthalmia, Hip dysplasia, Scoliosis	ORPHA:494344
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Depressed nasal bridge, Prolonged bleeding time, Rickets, Retrognathia, Osteomalacia,...	ORPHA:1901
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Muscle fiber atrophy, Muscular dystrophy, Myopathy	ORPHA:369840
Sydenham Chorea	Septic arthritis, Unsteady gait, Endocarditis	ORPHA:306731
Spondyloocular Syndrome	Platyspondyly, Osteopenia, Pectus carinatum, Low-set ears, Abnormality of the dentition, Lymphede...	OMIM:605822
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, Short n...	ORPHA:2083
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Pancytopenia, Microphthalmia, Microcephaly, Anemia, Reticulocytopenia,...	OMIM:227650
Floating-Harbor Syndrome	Broad-based gait, Small for gestational age, Clinodactyly, Short thumb, Avascular necrosis of the...	ORPHA:2044
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Difficulty walking, Inability to walk, Overlapping toe, Gait disturbance, Micr...	OMIM:618571
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Small for gestational age, Clinodactyly, Micrognathia, Single transverse palmar creas...	OMIM:614114
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Hearing impairment, Joint stiffness, Splenomegaly, ...	OMIM:252930
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Hearing impairment, Hepatosplenomegaly, Mitral regurgitation, Myopathy...	OMIM:612541
Fanconi Anemia, Complementation Group F	Pneumonia, Absent thumb, Short thumb, Failure to thrive, Leukopenia, Microcephaly, 2-3 finger syn...	OMIM:603467
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Meckel Syndrome, Type 2	Bowing of the long bones, Polydactyly, Microphthalmia, Postaxial hand polydactyly	OMIM:603194
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the ulna, Absent radiu...	ORPHA:1352
Carey-Fineman-Ziter Syndrome 1	Hypoplasia of the musculature, Micrognathia, Myopathy, Sensorineural hearing impairment, Talipes ...	OMIM:254940
Craniosynostosis 6	Right unilambdoid synostosis, Delayed cranial suture closure, Bicoronal synostosis, Spina bifida ...	OMIM:616602
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Pectus carinatum, Low-set ears, Long philtrum, Antever...	OMIM:616430
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature	OMIM:618416
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Neurofibromatosis-Noonan Syndrome	Abnormal helix morphology, Hypertrophic cardiomyopathy, Low-set, posteriorly rotated ears, Abnorm...	ORPHA:638
Myasthenia, Limb-Girdle, Autoimmune	Ptosis, Proximal amyotrophy, Type 2 muscle fiber atrophy, Fatigable weakness	OMIM:159400
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Failure to thrive, Microphthalmia	OMIM:274270
Familial Expansile Osteolysis	Conductive hearing impairment, Pathologic fracture, Bowing of the long bones, Fragile teeth, Thin...	OMIM:174810
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth, Occipital encephalocele	OMIM:614209
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Increased anterioposterior diameter of thorax, Mitral regurgitation, Vent...	ORPHA:99125
Neu-Laxova Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Osteomalacia, Micrognathia, Everted lower ...	ORPHA:2671
Digeorge Syndrome	Low-set ears, Recurrent otitis media, Micrognathia, Intervertebral disk degeneration, Hepatic ste...	OMIM:188400
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius	OMIM:602200
Trisomy 18	Narrow face, Microretrognathia, Deviation of finger, Camptodactyly of finger, Abnormal hip bone m...	ORPHA:3380
Mend Syndrome	Aortic valve stenosis, Low-set ears, Overlapping toe, Overlapping fingers, Micrognathia, High pal...	ORPHA:401973
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Pes cavus, Gait ataxia, Carpal bone hypoplasia, Gait dist...	OMIM:601162
Activated Pi3K-Delta Syndrome	Pneumonia, Failure to thrive, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Microcepha...	ORPHA:397596
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Edema, Vertigo, Intracranial hem...	ORPHA:324636
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia...	OMIM:181405
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Reversible Cerebral Vasoconstriction Syndrome	Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i...	ORPHA:284388
Trichorhinophalangeal Syndrome, Type Ii	Low-set ears, Rib exostoses, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Recur...	OMIM:150230
Dpm1-Cdg	High, narrow palate, Depressed nasal bridge, Muscular dystrophy, Hepatic fibrosis, Elevated circu...	ORPHA:79322
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Fryns Syndrome	Micrognathia, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Short neck, Anal atre...	ORPHA:2059
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly placed anus, Intrauterine ...	ORPHA:2319
Acrocardiofacial Syndrome	Low-set ears, Toe syndactyly, Finger syndactyly, Ventricular septal defect, Abnormal metacarpal m...	ORPHA:2008
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypophosphatemic rickets, Genu valgum, Coxa valga, Hypoplasia of teeth, Genu varum...	OMIM:613312
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep...	ORPHA:3002
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Lower limb asymmetry, Clinodactyly, Decreased muscle mass, Failure to thrive, Micrognathia, Esoph...	ORPHA:96182
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather...	OMIM:132900
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Limitation of joint mobility, Kyphosis, Difficulty walking, Long foot, Slender build, Large for g...	ORPHA:457359
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recurrent aphthous stomatitis, Autoimm...	OMIM:301078
Acquired Purpura Fulminans	Hepatic failure, Macular purpura, Shock, Skin rash, Internal hemorrhage, Prolonged prothrombin ti...	ORPHA:49566
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Low-set ears, Toe syndactyly, Valvular pulmonary stenosis, Bicuspid aortic valve, Atrial septal d...	OMIM:300707
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c...	OMIM:615415
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Halperin-Birk Syndrome	Failure to thrive, Inability to walk, Micrognathia, Congenital diaphragmatic hernia, Talipes equi...	OMIM:618651
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Autosomal Dominant Spastic Paraplegia Type 36	Spastic gait, Pes cavus, Arthritis	ORPHA:320365
Familial Afibrinogenemia	Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage, Miscarriage	ORPHA:98880
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proximal muscle weakness in lower limbs, Small hand, Aortic root aneurysm, Large fleshy ears, Nar...	ORPHA:280633
Vocal Cord And Pharyngeal Distal Myopathy	Rimmed vacuoles, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Decreased nerve ...	ORPHA:600
Dengue Fever	Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ...	ORPHA:99828
Muscular Dystrophy, Duchenne Type	Hamstring contractures, Knee flexion contracture, Hyperlordosis, Achilles tendon contracture, Fle...	OMIM:310200
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Delayed cranial suture closure, Postnatal macrocephaly, Decreased skull...	ORPHA:93325
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Joint subluxation, Small bowel diverticula, Congestive hear...	ORPHA:90349
Congenital Syphilis	Pneumonia, Periostitis, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Tibial bowin...	ORPHA:499009
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal joint morphology, Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Abnormal bone oss...	ORPHA:99646
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hearing impairment, Sensorineural hearing impairment, Short nose, Broad nasal tip, Short toe, Dow...	OMIM:239300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Lower limb muscle weakness, Bilateral ptosis, Ragged-red muscle fibers, ...	OMIM:616479
Congenital Generalized Lipodystrophy	Failure to thrive, Long foot, Abnormal facial shape, Large hands, Macroglossia, Bone cyst, Skelet...	ORPHA:528
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, A...	OMIM:619825
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Broad thumb, Camptodactyly of finger, Bilateral single transverse palmar creases, Microcephaly, F...	ORPHA:1236
Nance-Horan Syndrome	Narrow face, Microphthalmia, Short phalanx of finger, Long face, Broad finger	OMIM:302350
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Ascites, Death i...	OMIM:619433
Monosomy 9Q22.3	Low-set ears, Delayed eruption of teeth, Abnormality of the vertebral column, Umbilical hernia, L...	ORPHA:77301
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly, Dehydration	OMIM:251000
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers	ORPHA:477774
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impair...	OMIM:616367
Intellectual Developmental Disorder, X-Linked 106	Low-set ears, Clinodactyly, Open mouth, Thin upper lip vermilion, Bicuspid aortic valve, Thick ve...	OMIM:300997
Combined Oxidative Phosphorylation Deficiency 23	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growt...	OMIM:616198
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Noonan Syndrome 6	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Edema, Abnormal sternum morphology, Hype...	OMIM:613224
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Edema, Congestive heart...	ORPHA:90308
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Infantile sensorineural hearing impairment...	ORPHA:3129
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart mor...	ORPHA:79282
Methylmalonic Acidemia With Homocystinuria Type Cblf	Abnormal heart morphology, Intrauterine growth retardation, Skin rash, Reduced number of intrahep...	ORPHA:79284
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather...	ORPHA:494424
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Pes cavus, Gait disturbance, Triangular face, Ataxia	ORPHA:1174
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Warburg Micro Syndrome 2	Secondary microcephaly, Overlapping toe, Clinodactyly of the 5th toe, Microcephaly, Microphthalmi...	OMIM:614225
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Sandal gap, Retrognathia, Bulbous nose, Micrognathia, ...	OMIM:617061
Kapur-Toriello Syndrome	Joint contracture of the hand, Short thumb, Camptodactyly of finger, Overlapping fingers, Bilater...	OMIM:244300
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Abnormal hip bone morphology, Arachnodactyly, Ataxia, Abnormality of neutroph...	ORPHA:2720
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczematoid dermatitis, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Short humerus, Coarse ...	ORPHA:508542
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Highly arched e...	OMIM:619173
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Long foot, Large for gestational age, Gait ataxia, Joint hypermobility, Arachnodactyly,...	OMIM:617011
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Downturned corners of mouth, Intrauterine growth retardation, Enam...	ORPHA:2643
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Flexion contracture, Failure to thrive	OMIM:620240
Distal Duplication 17Q	Overlapping toe, Genu valgum, Micrognathia, Arachnodactyly, Bilateral sensorineural hearing impai...	ORPHA:3379
Menke-Hennekam Syndrome 1	Flat face, Cutaneous syndactyly of toes, Square face, Broad hallux, Sandal gap, Overlapping toe, ...	OMIM:618332
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Developmental Delay With Or Without Dysmorphic Facies And Autism	Low-set ears, Hearing impairment, Micrognathia, Congenital diaphragmatic hernia, Ventricular sept...	OMIM:618454
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Short nose	ORPHA:438178
Immunodeficiency 43	Reduced natural killer cell count, Radial bowing, Hypoplasia of the ulna, Lung abscess, B lymphoc...	OMIM:241600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Low-set ears, Hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Hip contracture...	OMIM:178110
Melioidosis	Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit...	ORPHA:31202
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Mandibular prognathia, Micrognathia, Hip dysplasia, Scoliosis, Short nose, Optic n...	ORPHA:496790
Infantile Refsum Disease	Abnormal epiphysis morphology, Hearing impairment, Cardiomyopathy, Sensorineural hearing impairme...	ORPHA:772
Gorlin Syndrome	Wide nasal bridge, Abnormal vertebral morphology, Carious teeth, Vertebral wedging, Abnormal rib ...	ORPHA:377
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Postaxial foot polydactyly, Bicuspid aortic valve, Atrial septal defect, ...	OMIM:615981
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Atrioventricular block, Cone-shaped epiphysis, Narrow chest, Abnormal scapula morp...	ORPHA:93317
Perlman Syndrome	Wide nasal bridge, Retrognathia, Anteverted nares, Micrognathia, Short nose	ORPHA:2849
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Abnorma...	ORPHA:168563
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microcephaly, Microphthalmia, Proxim...	ORPHA:139471
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Death in infancy, Cerebral hemorrhage	OMIM:618886
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Facial telangiectasia, Contracture of the proximal interphalangeal joint of the...	OMIM:620141
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Pes planus, Weigh...	ORPHA:84
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi...	ORPHA:3201
Lissencephaly 8	Talipes equinovarus, Skeletal muscle atrophy, Microcephaly, Microphthalmia	OMIM:617255
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Hepatomegaly, Patent ductus arteriosus, Accessory oral frenulum, Cone-shaped epiphy...	OMIM:617088
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Neonatal Marfan Syndrome	Low-set ears, Crumpled ear, Aortic root aneurysm, Micrognathia, Mitral regurgitation, Mitral valv...	ORPHA:284979
Optic Atrophy 11	Optic atrophy, Increased variability in muscle fiber diameter, Facial diplegia, Fiber type groupi...	OMIM:617302
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Micrognathia, Ventricular septal defect, Short neck, Pulmonary lymphangiectasia, He...	OMIM:235255
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis	ORPHA:2582
Branchial Arch Syndrome, X-Linked	Low-set ears, High, narrow palate, Hearing impairment, Protruding ear, High palate, Pulmonic sten...	OMIM:301950
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ...	ORPHA:3216
Ectopia Lentis 1, Isolated, Autosomal Dominant	Pectus carinatum, Aortic root aneurysm, Mitral valve prolapse, Joint hypermobility, Arachnodactyl...	OMIM:129600
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Bell-shaped thorax, Horizontal ribs, Coarctation of aorta, Pulmonary arterial hyper...	OMIM:614857
Walker-Warburg Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:899
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Low-set ears, Choanal atresia, Cupped ear, Retrognathia, Hearing impairment, Prominent nasal brid...	ORPHA:52055
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Ventricular septal defect, Sensorineural hearing impairment,...	OMIM:194190
Hajdu-Cheney Syndrome	Micrognathia, Genu valgum, Fibular bowing, Absent frontal sinuses, Crowded carpal bones, Short ne...	OMIM:102500
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Umbilical hernia, Large fontanelles, Joint hypermobility, Wide crania...	OMIM:219150
Malan Syndrome	Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Long fingers, Short nose...	OMIM:614753
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Optic atrophy, Arthrogryposis multiplex congenita, Fractures of the l...	ORPHA:496641
Dpagt1-Cdg	Elevated circulating hepatic transaminase concentration, Clinodactyly, Hearing impairment, Anasar...	ORPHA:86309
Zika Virus Disease	Myelitis, Ankle swelling, Wrist swelling, Optic disc hypoplasia, Skin rash, Infectious encephalit...	ORPHA:448237
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Alveolar Echinococcosis	Abnormal vertebral morphology, Abnormality of the diaphragm, Cutaneous abscess, Abnormal skeletal...	ORPHA:284
Acrofacial Dysostosis, Catania Type	Small hand, Microretrognathia, Carious teeth, Finger syndactyly, Hypoplasia of the zygomatic bone...	ORPHA:1786
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Lower limb asymmetry, Failure to thrive, Delayed cranial suture closure,...	ORPHA:2135
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Wide nasal bridge, Right aortic arch with mirror image branching, Low-se...	OMIM:601186
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi...	OMIM:616866
Noonan Syndrome 1	Low-set ears, Clinodactyly, Hearing impairment, Micrognathia, Ventricular septal defect, Synoviti...	OMIM:163950
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Osteopenia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Partial an...	ORPHA:2326
Noonan Syndrome 10	Low-set ears, Pectus carinatum, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleur...	OMIM:616564
Alkuraya-Kucinskas Syndrome	Hand clenching, Depressed nasal bridge, Clinodactyly, Overlapping toe, Micrognathia, Overlapping ...	OMIM:617822
Chromosome 8Q21.11 Deletion Syndrome	Square face, Micrognathia, Round face, Absent palmar crease, Microphthalmia, Camptodactyly, Short...	OMIM:614230
Baraitser-Winter Cerebrofrontofacial Syndrome	Wide nasal bridge, Retrognathia, Optic disc coloboma, Delayed cranial suture closure, Joint stiff...	ORPHA:2995
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613435
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Genitopalatocardiac Syndrome	Wide nasal bridge, Low-set ears, Downturned corners of mouth, Non-midline cleft of the upper lip,...	ORPHA:2075
Noonan Syndrome 3	Low-set ears, Hypoplastic nasal bridge, Mitral valve prolapse, Ventricular septal defect, Atrial ...	OMIM:609942
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Umbilical hernia, Short proxi...	OMIM:616638
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Intrauterine growth retard...	ORPHA:79243
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra...	OMIM:157640
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Bilateral ptosis, Rhabdo...	OMIM:255125
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy	OMIM:300376
Kbg Syndrome	Vertebral arch anomaly, Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd fin...	OMIM:148050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Low-set ears, Broad thumb, Carious teeth, Natal tooth, Micrognathia, Ventr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Low-set ears, Broad thumb, Carious teeth, Natal tooth, Micrognathia, Ventr...	ORPHA:353277
Fibronectin Glomerulopathy	Hypertension, Pedal edema, Cerebral hemorrhage	ORPHA:84090
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Short Syndrome	Hypoplasia of the iris, Joint hypermobility, Weight loss, Brachydactyly, Triangular face, Short palm	ORPHA:3163
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, ...	ORPHA:3027
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Depressed nasal bridge, Kyphosis, Long philtrum, Ascites, Villous atrophy, Splenome...	OMIM:608776
Heart And Brain Malformation Syndrome	Hand clenching, Camptodactyly of finger, Microcephaly, Limb hypertonia, Microphthalmia, Wide ante...	OMIM:616920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Platyspondyly, Growth arrest lines, Abnormal pelvic girdle bone morphology, Inflammato...	OMIM:102700
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Depressed nasal bridge, Optic atrophy, Slender long bone, Malar flattening, Joint hyp...	OMIM:618590
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Eczematoid dermatitis, Camptodactyly of finger, Micrognathia, Abnormal facial ...	ORPHA:284160
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Micrognathia, Hepatic steatosis, Rhabdomyolysis, Ventricular septal defec...	OMIM:614921
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, Weight loss, A...	ORPHA:3165
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A...	ORPHA:363618
Dominant Beta-Thalassemia	Depressed nasal bridge, Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatic fibrosis, ...	ORPHA:231226
17P11.2 Microduplication Syndrome	Failure to thrive, Micrognathia, Microcephaly, Triangular face, Scoliosis	ORPHA:1713
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr...	ORPHA:263297
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Ventricular septal defect, Sensor...	ORPHA:353281
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Microphthalmia	ORPHA:2528
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Microcephaly, Coarse facial features, Brachydactyly, Clinodactyly of the 5th finger, Triangular f...	ORPHA:1292
Opitz Gbbb Syndrome	Low-set ears, Aortic root aneurysm, Natal tooth, Hearing impairment, Ankyloglossia, Micrognathia,...	ORPHA:2745
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Scoliosis, Short toe, Retrognathia, Promine...	OMIM:619269
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh...	OMIM:602390
Schinzel-Giedion Midface Retraction Syndrome	Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Splenopancreatic fusion, Increased den...	OMIM:269150
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Sho...	OMIM:613443
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Abnormal antihelix morphology,...	ORPHA:2886
Burn-Mckeown Syndrome	Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose	ORPHA:1200
Trichothiodystrophy	Osteopenia, Joint dislocation, Eczematoid dermatitis, Increased mean corpuscular hemoglobin conce...	ORPHA:33364
Nabais Sa-De Vries Syndrome, Type 2	Failure to thrive in infancy, Micrognathia, Clinodactyly of the 5th finger, Triangular face, Tape...	OMIM:618829
Pulmonary Arteriovenous Malformation	Epistaxis, Bacterial endocarditis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemotho...	ORPHA:2038
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Hypoplastic iliac wing, Acetabular spurs, Gen...	OMIM:225500
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Lymphedema, Abnormal thorax morphology, Oligohydramnios, Death in i...	ORPHA:1318
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Hearing impairment, Micrognathia...	ORPHA:444077
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re...	ORPHA:99105
Familial Aortic Dissection	Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection...	ORPHA:229
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Broad hallux, Single transverse palmar crease, Microphthalmia	OMIM:614105
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Fraser Syndrome 1	Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal...	OMIM:219000
Leigh Syndrome, Nuclear	Optic atrophy, Respiratory failure, Respiratory insufficiency	OMIM:256000
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Protein-losing enteropathy, Subarachnoid hemorrhage	OMIM:277175
Bartsocas-Papas Syndrome 1	Low-set ears, Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Sh...	OMIM:263650
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Polyarticular arthritis, Sacroiliac arthritis, Abnormal sh...	ORPHA:85436
Pfeiffer Syndrome Type 3	Choanal atresia, Small hand, Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Tra...	ORPHA:93260
Image Syndrome	Depressed nasal bridge, Micromelia, Metaphyseal dysplasia	ORPHA:85173
Hallermann-Streiff Syndrome	Rib exostoses, Small hand, Tracheomalacia, Micrognathia, Short ribs, Microcephaly, Microphthalmia...	ORPHA:2108
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Low-set ears, Hepatosplenomegaly, Mitral regurgitation, Bicuspid aortic va...	OMIM:613563
Retinitis Pigmentosa 89	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ...	OMIM:618955
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Hearing impairment, Lateral ventricle dilatation, Absent gallbladder, Arachnodactyl...	ORPHA:500150
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Bilateral pto...	OMIM:164310
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Cerebral vasculitis, Cutaneous absce...	OMIM:243700
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo...	ORPHA:2414
Ciliary Dyskinesia, Primary, 5	Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic rhinitis, Respirator...	OMIM:608647
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Retrognathia, Thoracic kyphosis, Micrognathia, Short neck, Hypoplasia of teeth...	OMIM:620250
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Corti...	ORPHA:1310
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Prominent fingertip pads, Retrognathia, Bulbous nose, Clinodactyly of the 4th f...	ORPHA:485405
Alazami Syndrome	Microcephaly, Triangular face, Scoliosis, Decreased body weight	OMIM:615071
Ellis Van Creveld Syndrome	Synostosis of carpal bones, Genu valgum, Ventricular septal defect, Atrial septal defect, Dextroc...	ORPHA:289
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin...	OMIM:187300
Craniosynostosis 2	Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Triphalangeal thumb, Brachydactyly, M...	OMIM:604757
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Anemia, Weight loss,...	ORPHA:47
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Skeletal muscle atrophy, Hemophagocytosis, Failu...	ORPHA:39812
Autosomal Dominant Robinow Syndrome	Low-set ears, Finger syndactyly, Hearing impairment, Elbow dislocation, Open bite, Micrognathia, ...	ORPHA:3107
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Short nose, Delayed cranial suture closure	ORPHA:1129
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Singleton-Merten Syndrome 2	Aortic valve stenosis, Osteopenia, Aortic valve calcification, Joint subluxation, Abnormality of ...	OMIM:616298
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Finger swelling, Rickets, Wrist swelling, Failure t...	OMIM:309000
Faciocardiomelic Syndrome	Osteopenia, Depressed nasal bridge, Narrow chest, Dental malocclusion, Slender long bone, Hyperpl...	OMIM:612731
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Short thumb, Micrognathia, Kyphoscoliosis, Talipes equino...	OMIM:268400
X-Linked Intellectual Disability, Nascimento Type	Hearing impairment, Overlapping toe, Ventricular septal defect, Bilateral talipes equinovarus, Sh...	ORPHA:163956
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ...	OMIM:314400
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Biventricular hypertrophy, Recurrent otitis media, Median pseud...	OMIM:616462
Pancreatic And Cerebellar Agenesis	Failure to thrive, Joint stiffness, Overlapping fingers, Microcephaly, Anemia, Flexion contractur...	OMIM:609069
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose, Metopic synostosis	OMIM:300581
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure...	OMIM:235200
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
5Q14.3 Microdeletion Syndrome	Anteverted nares, Toe syndactyly, Short nose, Optic nerve hypoplasia	ORPHA:228384
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Slender finger, Respiratory failure	OMIM:250940
Congenital Myopathy 17	Hand clenching, Diaphragmatic eventration, Clinodactyly, Failure to thrive in infancy, Overlappin...	OMIM:618975
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Osteomalacia, Genu valgum, Micrognathia, Patellar dislocation, Microphthalmia, Lon...	ORPHA:534
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Micrognathia, Osteoporosis, Flexion contracture, Scoliosis, Short nose, Wide nose	OMIM:615851
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle...	ORPHA:1457
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Micrognathia, Ventricular septal defect, Short neck, Atrial septal defect, Small th...	OMIM:613458
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Encephalocele, Convex nasal ridge, Short nose	OMIM:200130
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Primary microcephaly, Ataxia	OMIM:615771
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal sternum morphology, Tetralogy of Fallot, Abnormal heart morphology,...	ORPHA:2847
Kinsship Syndrome	Low-set ears, Ankyloglossia, Micrognathia, Short neck, Dislocated radial head, Hip dislocation, O...	OMIM:619297
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Neu...	ORPHA:33110
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Obesity, Ragged-red muscle fibers, Left ventricular hypertrophy, Achille...	OMIM:615418
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r...	OMIM:602418
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Joint contracture of the hand, Limitation of joint mobility, Prominent no...	ORPHA:363528
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Splenic rupture, Microphthalmia, Right ventricular hypertrophy, Clu...	ORPHA:335
Marden-Walker Syndrome	Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Micrognathia, Narrow mouth, ...	ORPHA:2461
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Death in infancy, Meningocele	ORPHA:2481
1P36 Deletion Syndrome	Delayed cranial suture closure, Abnormality of the spleen, Narrow mouth, Hepatic steatosis, Myopa...	ORPHA:1606
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Vascular dilatation, Polyhydramnios	OMIM:219730
Galloway-Mowat Syndrome 1	Slender finger, Hand clenching, Joint contracture of the hand, Hypoplasia of the iris, Secondary ...	OMIM:251300
Maternal Phenylketonuria	Hypoplastic left heart, Wide nasal bridge, Hypoplastic helices, Clinodactyly, Long philtrum, Tetr...	ORPHA:2209
Glycogen Storage Disease Due To Aldolase A Deficiency	Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ...	ORPHA:57
Klippel-Feil Syndrome 1, Autosomal Dominant	Conductive hearing impairment, Hearing impairment, Congenital muscular torticollis, Cervical C2/C...	OMIM:118100
Molybdenum Cofactor Deficiency, Type B	Axonal loss, Peripheral demyelination, Gliosis	OMIM:252160
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Pectus carinatum, Micromelia, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:614299
Teebi-Shaltout Syndrome	Aortic valve stenosis, Low-set ears, Caudal appendage, Narrow mouth, Ventricular septal defect, T...	OMIM:272950
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Abnormality of the sphenoid sinus, Genu valgum, Micrognathia, Mitral r...	ORPHA:363700
Intellectual Developmental Disorder, Autosomal Dominant 1	Depressed nasal ridge, Scoliosis, Sandal gap, Retrognathia, Short nose, Bulbous nose, Micrognathi...	OMIM:156200
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Thanatophoric Dysplasia, Glasgow Variant	Micromelia, Neonatal death	OMIM:273680
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub...	ORPHA:853
Ossicular Malformations, Familial	Abnormality of the middle ear ossicles, Congenital conductive hearing impairment	OMIM:165680
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Micrognathia, Glue ear, Absent gal...	ORPHA:3310
Oculocerebrofacial Syndrome, Kaufman Type	Optic atrophy, Retrognathia, Micrognathia, Arachnodactyly, Respiratory failure	ORPHA:2707
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Microcephaly, Osteoarthritis, Macrocephaly, Long face, Skeletal muscle hypertrophy	OMIM:619714
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Myopathy	OMIM:602541
Frontorhiny	Finger clinodactyly, Camptodactyly of finger, Lumbar hyperlordosis, Brachydactyly, Microphthalmia...	ORPHA:391474
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Joint stiffness, Brachydactyly, Pulmonic stenosis	OMIM:614819
Charge Syndrome	Low-set ears, Micrognathia, Ventricular septal defect, Sensorineural hearing impairment, Overridi...	OMIM:214800
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Optic atrophy, Dental malocclusion, Contractures of the large joints, Micrognathia, S...	ORPHA:329178
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Macrotia, Low-set, posteriorly rotated ears, Abnormal mesentery...	ORPHA:2167
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Retrognathia, Micrognathia, Decreased calvarial ossification, Nonim...	OMIM:618265
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Hypermyelinated retinal nerve fibers, Decreased number...	OMIM:270550
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he...	ORPHA:3400
Cardiofaciocutaneous Syndrome 4	Abnormal aortic valve morphology, Joint hypermobility, Ventricular septal hypertrophy, Polyhydram...	OMIM:615280
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dehydration, Pulmonic stenosis	ORPHA:79159
Fanconi Anemia, Complementation Group N	Aplastic anemia, Absent thumb, Short thumb, Microcephaly, Acute myeloid leukemia, Hypoplasia of t...	OMIM:610832
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure	OMIM:605711
Molybdenum Cofactor Deficiency, Type A	Axonal loss, Peripheral demyelination, Gliosis	OMIM:252150
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Eczematoid dermatitis, Failure to thri...	OMIM:601358
Leber Hereditary Optic Neuropathy	Arrhythmia, Myopathy, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
Giant Cell Arteritis	Vasculitis, Epistaxis, Hepatic failure, Conductive hearing impairment, Aortic dissection, Double ...	ORPHA:397
Gapo Syndrome	Depressed nasal bridge, Optic atrophy, Eruption failure, Delayed cranial suture closure, Umbilica...	OMIM:230740
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Low-set ears, Pulmonary artery hypoplasia, Aortic root aneury...	OMIM:620025
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Long philtrum, Micrognathia, Narrow mout...	OMIM:613457
Pmm2-Cdg	High palate, Abnormal pinna morphology, Macrotia, Osteopenia, Lymphedema, Hypertrophic cardiomyop...	ORPHA:79318
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Situs inver...	OMIM:615382
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe...	OMIM:201300
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal rib morphology, Abnormal sternum morphology, Broad ribs, Ventricular septal defect, Shor...	ORPHA:2519
Congenital Toxoplasmosis	Failure to thrive in infancy, Microcephaly, Thrombocytopenia, Microphthalmia, Anemia	ORPHA:858
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial mu...	OMIM:616239
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Depressed nasal bridge, Bifid uvula, Abnormality of the dentition, Skeletal muscle atrophy, Secun...	OMIM:615802
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Retrognathia, Elbow ...	ORPHA:2554
Cirrhotic Cardiomyopathy	Pulmonary edema, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Hepatomegaly, Fourth he...	ORPHA:57777
Lethal Congenital Contracture Syndrome 2	Micrognathia, Arthrogryposis multiplex congenita, Respiratory failure	OMIM:607598
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Double outlet right ventricle, Dextrocardia	OMIM:618254
Myotonia Permanens	Limitation of joint mobility, Generalized muscle hypertrophy, Gait disturbance, Hyperlordosis, Sk...	ORPHA:99735
Gapo Syndrome	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Micrognathia, Join...	ORPHA:2067
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my...	ORPHA:320406
Craniotubular Dysplasia, Ikegawa Type	Wide nasal bridge, Platyspondyly, Broad femoral neck, Hearing impairment, Long philtrum, Thick lo...	OMIM:619727
Diamond-Blackfan Anemia 1	Delayed cranial suture closure, Micrognathia, Ventricular septal defect, Short neck, Atrial septa...	OMIM:105650
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Cerebrocostomandibular Syndrome	Posterior rib gap, Hydranencephaly, Conductive hearing impairment, Tracheomalacia, Atresia of the...	ORPHA:1393
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormality of the outer ear, Finger syndactyly, A...	ORPHA:2753
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Abnormality of body weight, Leukopenia, Skin rash, Decreased body weight, I...	ORPHA:2298
Beta-Thalassemia Major	Depressed nasal bridge, Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatic fibrosis, ...	ORPHA:231214
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Foot polydactyly, Vertebral segmentation defect, Missing ribs, Aplasia/Hypoplasia of the thumb, M...	ORPHA:3186
Refsum Disease, Classic	Anosmia, Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Sensorineural hearing im...	OMIM:266500
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemia, Bronchiect...	OMIM:620321
Endocrine-Cerebroosteodysplasia	Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Micrognathia, Tibial bowing, Single...	OMIM:612651
Trichohepatoenteric Syndrome 1	Low-set ears, Cholestasis, Large placenta, Narrow mouth, Ventricular septal defect, Cirrhosis, He...	OMIM:222470
Wilson Disease	Chondrocalcinosis, Osteomalacia, Limb muscle weakness, Splenomegaly, Joint hypermobility, Atypica...	OMIM:277900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Micrognathia, Splenomegaly, Myopathy, Acroosteolysis of distal phalanges (feet), Osteolytic defec...	ORPHA:280365
Nanophthalmos	Microphthalmia	ORPHA:35612
Diarrhea 5, With Tufting Enteropathy, Congenital	Small for gestational age, Failure to thrive, Arthritis	OMIM:613217
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Craniosynostosis, Coarse facial features, Triangular face, Microcephaly	OMIM:620428
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Hemifacial hypoplasia, Facial asymmet...	OMIM:618727
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Cleft palate, Hypop...	OMIM:602196
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro...	OMIM:271245
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Inflammatory abnormality of the skin, Cardiomyopathy, Coronary artery stenosis, ...	ORPHA:565612
Doors Syndrome	Wide nasal base, Low-set ears, Atresia of the external auditory canal, Short lingual frenulum, Op...	ORPHA:79500
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Secondary microcephaly, Osteomyelitis, Hypochromic microcytic anemia, Arthriti...	OMIM:619423
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Small for gestational age, Skeletal muscle atrophy, Clinodactyly, Overlapping toe, Mi...	OMIM:309590
Double Outlet Left Ventricle	Abnormal right ventricular function, Ventricular septal defect, Pulmonary artery stenosis, Cardio...	ORPHA:3427
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Polysplenia, Abnormal tibia morpho...	ORPHA:1335
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Optic atrophy, Clinodactyly, Brachydac...	OMIM:614261
Myasthenic Syndrome, Congenital, 19	Ptosis, Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Peho Syndrome	Optic atrophy, Limitation of joint mobility, Anteverted nares, Malar flattening, Hydrocephalus, F...	ORPHA:2836
Bohring-Opitz Syndrome	Limitation of joint mobility, Micrognathia, Agenesis of corpus callosum, Bilateral wrist flexion ...	ORPHA:97297
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis	ORPHA:567544
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Stüve-Wiedemann Syndrome	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion...	ORPHA:3206
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm short...	OMIM:268305
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Flat face, Microretrognathia, Failure to thrive, Ataxia, Small for gestational age	OMIM:614052
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac...	ORPHA:464343
Lathosterolosis	2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly, Anteverte...	OMIM:607330
Ctcf-Related Neurodevelopmental Disorder	Pulmonary hemorrhage, Narrow mouth, Joint contracture of the 5th finger, Mitral regurgitation, At...	ORPHA:363611
Alfadhel Syndrome	Talipes equinovarus, Triangular face, Microcephaly, Joint hypermobility	OMIM:620655
Fryns Syndrome	Thin ribs, Low-set ears, Joint contracture of the hand, Abnormal helix morphology, Ventricular se...	OMIM:229850
Mevalonic Aciduria	Microcephaly, Triangular face, Splenomegaly, Ataxia	ORPHA:29
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit...	OMIM:113500
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy, Microcephaly, Abnormal facial shape, Gait disturbance, Triangu...	ORPHA:85329
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Small hand, Severe B lymphocytopenia, Delayed cranial suture closure, Lymphopen...	OMIM:620005
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Long hallux, Anteverted nares, Short nose, Tapered finger	OMIM:619854
Craniotelencephalic Dysplasia	Craniosynostosis, Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Chondrodysplasia Punctata, Autosomal Dominant	Epiphyseal stippling, Knee flexion contracture, Hip contracture, Talipes equinovarus, Hypoplasia ...	OMIM:118650
Familial Hyperaldosteronism Type I	Tinnitus, Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:403
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Dental crowding, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral re...	OMIM:617168
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Absent gallbladder, Barrel-shaped chest, Ventricular septal defect, Atr...	OMIM:300712
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Micrognathia, Large fontanelles, A...	ORPHA:90154
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Depressed nasal bridge, Natal tooth, Small anterior fontanelle, Microg...	OMIM:617802
Native American Myopathy	Congenital contracture, Skeletal muscle atrophy, Downslanted palpebral fissures, Bilateral ptosis...	ORPHA:168572
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint subluxation, Kyphosis, Joint hypermobility, Talipes equinovarus, Wormian bones, Hallux valg...	OMIM:617821
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Joint swelling,...	ORPHA:829
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Anteriorly placed anus, Coarctation of aorta, Ethmoidal encephaloc...	ORPHA:280195
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Sandal gap, Bulbous nose, Clinodactyly of the 5th finger, Scoliosis, Shor...	OMIM:618430
Congenital Disorder Of Glycosylation, Type Ia	Death in childhood, Hepatic steatosis, Hepatomegaly, Macrotia, Osteopenia, Villous atrophy, Nonim...	OMIM:212065
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy	ORPHA:2348
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Scoliosis, Mandibular prognathia, Kyphosis, Short nose, Pro...	ORPHA:261144
Glycogen Storage Disease Vii	Increased variability in muscle fiber diameter, Gout, Increased muscle glycogen content	OMIM:232800
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Sensorineural hearing ...	OMIM:249270
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Absent thumb, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis	OMIM:619239
Scarf Syndrome	Abnormal form of the vertebral bodies, Diastasis recti, Joint hypermobility, Short sternum, Coars...	ORPHA:3134
Orofaciodigital Syndrome Type 5	Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Agenesis of corp...	ORPHA:2919
Poems Syndrome	Abnormality of skin physiology, Sclerosis of hand bone, Sclerosis of foot bone, Ascites, Metaphys...	ORPHA:2905
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal bleeding, Hepatic failure, Elevated circ...	ORPHA:398124
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia	ORPHA:2252
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatic fibrosis, Narrow chest, Hepatic failure, Nodular regene...	OMIM:620454
Intellectual Developmental Disorder, Autosomal Dominant 45	Skin rash, Arachnodactyly, Heart murmur, Scoliosis, Pulmonic stenosis	OMIM:617600
17Q11 Microdeletion Syndrome	Low-set ears, Abnormality of the sphenoid sinus, Large hands, Osteopenia, Hypertrophic cardiomyop...	ORPHA:97685
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Secondary microcephaly, Clinodactyly of the 5th toe, Short sternum, Ulnar deviation of the hand, ...	OMIM:620113
Deafness, Conductive, With Malformed External Ear	Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal pin...	OMIM:221300
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Micrognathia, Facial palsy, Short nose	OMIM:614744
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip, Short nose	OMIM:615716
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Optic nerve hypoplasia, Reduced muscle fiber alpha dystroglycan, Lumbar hyper...	ORPHA:370959
Pparg-Related Familial Partial Lipodystrophy	Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy, Skeletal musc...	ORPHA:79083
Jaberi-Elahi Syndrome	Hand clenching, Depressed nasal bridge, Optic atrophy, Joint stiffness, Joint hypermobility, Tali...	OMIM:617988
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Anteriorly place...	ORPHA:1225
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Open mouth, Narrow mouth, Ventricular septal defect, Atrial septa...	OMIM:300967
Jacobsen Syndrome	Failure to thrive, Micrognathia, Missing ribs, Microcephaly, Macular hypoplasia, Brachydactyly, T...	OMIM:147791
Donnai-Barrow Syndrome	Depressed nasal bridge, Umbilical hernia, Wide anterior fontanel, Short nose	ORPHA:2143
Autosomal Dominant Dopa-Responsive Dystonia	Rheumatoid arthritis, Pes cavus, Gait ataxia, Talipes equinovarus, Progressive flexion contractur...	ORPHA:98808
Holoprosencephaly 13, X-Linked	Low-set ears, Alobar holoprosencephaly, Hearing impairment, Thoracic hemivertebrae, Micrognathia,...	OMIM:301043
Waardenburg Syndrome Type 1	Wide nasal bridge, Mandibular prognathia, Underdeveloped nasal alae, Aganglionic megacolon, Spina...	ORPHA:894
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Postaxial hand polydactyly	ORPHA:1389
Steinfeld Syndrome	Abnormal vertebral morphology, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the r...	OMIM:184705
Mosaic Variegated Aneuploidy Syndrome	Muscular dystrophy, Micrognathia, Acute lymphoblastic leukemia, Microcephaly, Triangular face, Ab...	ORPHA:1052
Galloway-Mowat Syndrome 3	Failure to thrive, Micrognathia, Arachnodactyly, Microcephaly, Microphthalmia, Camptodactyly, Hip...	OMIM:617729
Tetrasomy 12P	Delayed eruption of teeth, Anteverted nares, Joint hypermobility, Short neck, Short nose	ORPHA:884
Familial Hyperaldosteronism Type Ii	Tinnitus, Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:404
Aicardi Syndrome	Small hand, Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, M...	ORPHA:50
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Low-set ears, Hearing impairment, Delayed cranial suture closure, Narrow mouth, Mitral regurgitat...	OMIM:601776
Meester-Loeys Syndrome	Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, High palate, Pulmonary artery aneury...	OMIM:300989
Stormorken Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Prominent nose, Myopa...	OMIM:185070
Craniolenticulosutural Dysplasia	Carious teeth, High palate, Osteopenia, Thin upper lip vermilion, Narrow iliac wing, Hypoplasia o...	OMIM:607812
Hydrolethalus	Low-set ears, Bifid uvula, Gingival cleft, Micromelia, Retrognathia, Unilateral cleft lip, Low-se...	ORPHA:2189
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose, Joint hypermobility	OMIM:300143
Hengel-Maroofian-Schols Syndrome	Wide nasal bridge, Tooth malposition, Foot joint contracture, Widely spaced teeth, Open mouth, Bi...	OMIM:619641
Limb Body Wall Complex	Progressive congenital scoliosis, Cutaneous finger syndactyly, Aplasia/hypoplasia involving bones...	ORPHA:2369
Desmosterolosis	Low-set ears, Total anomalous pulmonary venous return, Rhizomelia, Hypoplastic nasal bridge, Join...	OMIM:602398
Johanson-Blizzard Syndrome	Death in childhood, Ventricular septal defect, Sensorineural hearing impairment, Elevated circula...	OMIM:243800
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Spleno...	ORPHA:36412
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Mullegama-Klein-Martinez Syndrome	Low-set ears, Atresia of the external auditory canal, Micrognathia, Congenital diaphragmatic hern...	OMIM:301022
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Broad nas...	ORPHA:1784
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage...	ORPHA:3093
Adams-Oliver Syndrome 5	Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulm...	OMIM:616028
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Aganglionic megacolon, Hydro...	ORPHA:59315
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mu...	ORPHA:207
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Short distal phalanx of finger, Delayed cranial suture closure, Elbow flexion contrac...	OMIM:248370
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Postaxial foot polydactyly, Contractures of the large joints, Respiratory insuffic...	ORPHA:521426
Joubert Syndrome 2	Postaxial foot polydactyly, Failure to thrive, Abnormal foot morphology, Macrocephaly, Metopic sy...	OMIM:608091
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Hypoplasia of the maxil...	OMIM:608156
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Carious teeth, Slender long bone, Intrauterine growth retardation, Decreas...	OMIM:244460
Specc1L-Related Hypertelorism Syndrome	Low-set ears, Abnormal helix morphology, Finger syndactyly, Ventricular septal defect, Arrhythmia...	ORPHA:1519
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Failure to thrive, Generalized limb muscle atrophy, Ragged-red muscle fibers, Distichiasis, Scapu...	OMIM:600462
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Osteomalacia, Camptodactyly of finger, Abnormal dental morphology, Joint ...	ORPHA:2176
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Congenital hip dislocation, Elbow flexion contracture, Micrognathia, K...	ORPHA:2020
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Decreased body weight, Microcephaly, Microphthalmia, Flexion contracture, Optic nerve ...	OMIM:614833
Coffin-Lowry Syndrome	Bifid sternum, Kyphosis, Single transverse palmar crease, Decreased body weight, Microcephaly, Ta...	OMIM:303600
Kabuki Syndrome	Small hand, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Vertebral clefting...	ORPHA:2322
Geleophysic Dysplasia 2	Cone-shaped epiphysis, Limitation of joint mobility, Respiratory insufficiency, Joint stiffness, ...	OMIM:614185
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myositis, Perito...	ORPHA:32960
Fetal Alcohol Syndrome	Narrow face, Joint stiffness, Micrognathia, Congenital diaphragmatic hernia, Vertebral segmentati...	ORPHA:1915
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Respiratory insufficiency, Anteverted nares, Clinodactyly of the 5th f...	ORPHA:2031
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia, Arthritis	OMIM:604250
Mosaic Trisomy 20	Craniofacial asymmetry, Narrow chest, Cleft lip, Clinodactyly, Retrognathia, Hearing impairment, ...	ORPHA:1724
Dystonia 23	Arrhythmia, Torticollis	OMIM:614860
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Mesomelic leg shortening, Fibular aplasia, Limited elbow extension an...	OMIM:605274
Combined Oxidative Phosphorylation Deficiency 11	Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure	OMIM:614922
Erythrocytosis, Familial, 1	Vertigo, Splenomegaly, Cerebral hemorrhage, Hypertension, Myocardial infarction	OMIM:133100
Usher Syndrome Type 1	Abnormal dental enamel morphology, Vestibular hypofunction, Abnormal cochlea morphology, Sensorin...	ORPHA:231169
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Intrauterine growth retardation, Gout, Vascular dilatation	OMIM:617056
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Thick nasal alae, Micrognathia, Hydrocephalus, Short nose	ORPHA:163961
Familial Thyroid Dyshormonogenesis	Depressed nasal bridge, Abnormal epiphysis morphology, Large posterior fontanelle, Delayed crania...	ORPHA:95716
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur...	ORPHA:330001
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro...	ORPHA:90068
Fetal Akinesia Deformation Sequence 1	Thin ribs, Low-set ears, Decreased muscle mass, Micrognathia, Narrow mouth, Hip contracture, Tali...	OMIM:208150
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Microcytic anemia, Failure to thrive in infancy, Pancreatitis, Microphthalmia	OMIM:618805
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Myelofibrosis, Myeloproliferative d...	OMIM:254450
Cree Impaired Intellectual Development Syndrome	Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the ribs, Triangular face, Rocke...	OMIM:606851
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Congenital diaphragmatic hernia, Anophthalmia, Microphthal...	OMIM:305600
Autosomal Spastic Paraplegia Type 58	Peripheral demyelination	ORPHA:397946
Fabry Disease	Hearing impairment, Mitral regurgitation, Sensorineural hearing impairment, Arrhythmia, Lymphedem...	ORPHA:324
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Optic atrophy, Respiratory failure, Abnormality of somatosens...	ORPHA:98755
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Micrognathia, Aplasia/Hy...	ORPHA:235
Ulbright-Hodes Syndrome	Depressed nasal bridge, Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humerora...	ORPHA:3404
Fanconi Anemia, Complementation Group D2	Small for gestational age, Absent thumb, Short thumb, Preaxial hand polydactyly, Pancytopenia, Mi...	OMIM:227646
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Stiff Skin Syndrome	Elbow flexion contracture, Knee flexion contracture, Limited shoulder movement, Bicuspid aortic v...	OMIM:184900
Microphthalmia, Syndromic 13	Microphthalmia, Microcephaly, Kyphoscoliosis	OMIM:300915
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber a...	ORPHA:98914
Congenital Myasthenic Syndrome	Congenital hip dislocation, Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber a...	ORPHA:590
Trisomy 8Q	Wide nasal bridge, Camptodactyly of finger, Myelomeningocele, Low-set, posteriorly rotated ears, ...	ORPHA:1752
21Q22.11Q22.12 Microdeletion Syndrome	Low-set ears, Clinodactyly, Recurrent otitis media, Agenesis of corpus callosum, Atrial septal de...	ORPHA:261323
Cornelia De Lange Syndrome 6	Low-set ears, Ventricular septal defect, Arachnodactyly, Macrotia, Short nose, Pectus carinatum, ...	OMIM:620568
Hypophosphatasia	Abnormality of the dentition, Narrow chest, Bowing of the long bones, Abnormal rib morphology, Cr...	ORPHA:436
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Respiratory failure, Death in childhood	OMIM:615838
Sporadic Pheochromocytoma/Secreting Paraganglioma	Conductive hearing impairment, Sinus tachycardia, Congestive heart failure, Positive regitine blo...	ORPHA:276621
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Cerebral i...	ORPHA:60040
Chopra-Amiel-Gordon Syndrome	Joint hypermobility, Microcephaly, Macrocephaly, Triangular face, Scoliosis	OMIM:619504
Hydrops Fetalis	Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni...	ORPHA:1041
Rheumatic Fever	Epistaxis, Abnormal heart valve morphology, Abnormal mitral valve morphology, Abnormal aortic val...	ORPHA:3099
Lethal Acantholytic Erosive Disorder	Natal tooth, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of ...	ORPHA:158687
Naxos Disease	Cardiomyopathy, Congestive heart failure, Vertigo, Cleft upper lip, Arrhythmia, Paroxysmal ventri...	ORPHA:34217
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Camptodactyly of finger, Absent hand, Abnormality of the wrist, O...	ORPHA:3138
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Death in infancy, Neonatal death, Clubbing, Respiratory failure	OMIM:265120
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Wide nasal bridge, Low-set ears, Hypoplastic helices, Hearing impairment, Abnormal heart morpholo...	OMIM:617641
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Ptosis, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy	OMIM:619424
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Foot polydactyly, Short nose, Preaxial hand polydactyly	ORPHA:210548
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Muscular dystrophy, Macrocephaly at birth, Microphthalmia	ORPHA:324416
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Aortic root aneurysm, Recurrent otitis media, Mitral valve prolapse, Joint hypermobility, Hyperte...	ORPHA:449291
Dermotrichic Syndrome	Abnormal vertebral morphology, Depressed nasal bridge, Aganglionic megacolon, Short nose	ORPHA:99688
Orofaciodigital Syndrome V	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Ankyloglossia, Ventricular septal d...	OMIM:174300
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:615595
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Duodenal atresi...	ORPHA:464306
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, La...	OMIM:619487
Microphthalmia, Syndromic 12	Micrognathia, Congenital diaphragmatic hernia, Anophthalmia, Microphthalmia	OMIM:615524
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Low-set ears, Aplastic clavicle, Depressed nasal bridge, Narrow chest, Micromelia, Preaxial polyd...	OMIM:616546
Alagille Syndrome 1	Low-set ears, Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Long nose,...	OMIM:118450
Isovaleric Acidemia	Cerebellar hemorrhage, Dehydration	OMIM:243500
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Broad nasal tip, Broad hallux, Aganglionic megacolon, Left unicoronal synostos...	OMIM:614749
Postinfectious Vasculitis	Bacterial endocarditis, Palpable purpura, Inflammatory abnormality of the skin, Cardiomyopathy, C...	ORPHA:48435
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers	OMIM:604360
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Neonatal respiratory distress, Underdeveloped nasal alae, Anteverted nare...	OMIM:619005
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste...	OMIM:614300
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Short nose, Postaxial hand polydactyly	ORPHA:1702
Cinca Syndrome	Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Arthritis, Anemia...	OMIM:607115
Tetrasomy 18P	Scoliosis, Large hands, Short nose	ORPHA:3307
Scedosporiosis	Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Respiratory failure	ORPHA:449280
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Muscular dystrophy, Elbow flexion contracture, Arrhythmia, Joint contracture, Scoliosis, Generali...	OMIM:616516
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Depressed nasal bridge, Dilated cardiomyopathy, Ventricular bigeminy, Cleft lip, Tricuspid regurg...	OMIM:620519
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Contractures of the large joints, Respiratory insufficiency, Micrognathia, Postaxi...	OMIM:617527
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Abnormality of cartilage of external ear, Microcephaly, Microphthalmia,...	ORPHA:2399
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Depressed nasal bridge, Elbow flexion contracture, Anteverted nares, Micrognathia, Large fontanel...	OMIM:300868
Pfapa Syndrome	Weight loss, Splenomegaly, Arthritis, Infectious encephalitis	ORPHA:42642
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Clinodactyly, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sept...	OMIM:301044
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Nizon-Isidor Syndrome	Thoracolumbar kyphosis, Prominent fingertip pads, Pes planus, Long fingers, Triangular face	OMIM:618872
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Low-set ears, Toe syndactyly, Dilatation of the ventricular cavity, Narrow mouth, Ventricular sep...	ORPHA:459070
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Rippling Muscle Disease 2	Calf muscle hypertrophy, Skeletal muscle hypertrophy	OMIM:606072
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Elevated circulating hepatic transamin...	OMIM:615471
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose	OMIM:137550
Muscle Hypertrophy	Skeletal muscle hypertrophy	OMIM:614160
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Persistent open anterior fontanelle, Delayed cranial suture closure, ...	ORPHA:357058
Potocki-Lupski Syndrome	Failure to thrive, Micrognathia, Microcephaly, Triangular face, Scoliosis, Small for gestational age	OMIM:610883
Giant Axonal Neuropathy 1, Autosomal Recessive	Facial palsy, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral ...	OMIM:256850
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Low-set ears, Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Ventricular septal ...	OMIM:608670
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke, Hydrocephalus	ORPHA:447788
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Hypertrophic cardiomyopathy, Peripheral edema, Mitral regurgitation, Pul...	ORPHA:75249
Hemophilia A	Osteoarthritis, Joint hemorrhage, Muscle hemorrhage	OMIM:306700
Oligoarticular Juvenile Idiopathic Arthritis	Abnormality of the ankle, Rheumatoid arthritis, Failure to thrive, Joint hypermobility, Knee oste...	ORPHA:85410
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Broad jaw, Broad thumb, Umbilical hernia, Bulbous nose, Micrognathia, Exag...	OMIM:614501
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	EMG: myopathic abnormalities, Ptosis, Limb muscle weakness, Ragged-red muscle fibers	OMIM:609286
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Tracheomalacia, Hyperplasia of the maxilla, Everted upper lip vermilion, ...	ORPHA:513456
Dubowitz Syndrome	Aplastic anemia, Eczematoid dermatitis, Hypoplasia of the iris, Micrognathia, Otitis media, Singl...	OMIM:223370
Morquio Syndrome C	Platyspondyly	OMIM:252300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the ma...	ORPHA:306542
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh...	OMIM:617405
Monosomy 9P	Low-set ears, Limitation of joint mobility, Atresia of the external auditory canal, Micrognathia,...	ORPHA:261112
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology, Sensorineural hearing impairment, Arrhythmia, Hyperte...	ORPHA:3222
Acute Panmyelosis With Myelofibrosis	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis,...	ORPHA:86843
Hypomandibular Faciocranial Dysostosis	Optic disc coloboma, Anteverted nares, Death in infancy, Choanal stenosis, Craniosynostosis, Maxi...	ORPHA:1790
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Osteoarth...	ORPHA:342
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Obesity, Postaxial hand pol...	OMIM:181450
Oculogastrointestinal Neurodevelopmental Syndrome	Simple ear, Bicuspid aortic valve, Hemivertebrae, Anal atresia, Low hanging columella, Sacral dimple	OMIM:619318
Floating-Harbor Syndrome	Atopic dermatitis, Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of ...	OMIM:136140
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Erythema nodosum, Arthritis	OMIM:611762
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunctival ...	ORPHA:340
Simosa Craniofacial Syndrome	Flat face, Long face	OMIM:182150
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Flared nostrils, Small hand, Low-set ears, Limitation of joint mobility, Hearing...	ORPHA:480880
Trisomy 10P	Depressed nasal bridge, Abnormal auditory evoked potentials, Short toe, Retrognathia, Thumb contr...	ORPHA:171929
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Splenomegaly, Cerebral hemo...	OMIM:263300
3-Hydroxyisobutyric Aciduria	Microcephaly, Micrognathia, Triangular face	ORPHA:939
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re...	OMIM:620067
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Anterior concavit...	OMIM:216340
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Clinodactyly, Short nose, Syndactyly	OMIM:618087
Faciodigitogenital Syndrome, Autosomal Recessive	Down-sloping shoulders, Triangular face, Hyperextensible hand joints, Metatarsus adductus, Verteb...	OMIM:227330
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ptosis, Ragged-red muscle fibers	ORPHA:70595
Microcephalic osteodysplastic primordial dwarfism, type III	Optic atrophy, Ulnar deviation of finger, Slender long bone, Delayed cranial suture closure, Hypo...	OMIM:210730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Muscular dystrophy, Abnormally large globe, Microcephaly, Progressive microcephaly, Microphthalmi...	OMIM:615249
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure, Spinal rigidity	OMIM:620326
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Hearing impairment, Ec...	ORPHA:85199
Mevalonic Aciduria	Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Morbilliform rash, Hep...	OMIM:610377
Mixed Connective Tissue Disease	Joint stiffness, Leukopenia, Skin rash, Joint swelling, Splenomegaly, Myositis, Gastritis, Kerato...	ORPHA:809
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Radial deviation of finger, Clinodactyly, Umbilical hernia, Anteverted na...	OMIM:301040
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Microcephaly, Aplasi...	ORPHA:85165
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Failure to thrive, Decreased FOXP3-expressing T cell count, Ane...	OMIM:304790
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short distal phalanx of finger, Depressed nasal bridge, Delayed eruption of teeth, Clinodactyly, ...	OMIM:615866
Tenorio Syndrome	Osteopenia, Delayed cranial suture closure, Anteverted nares, Joint hypermobility, Hydrocephalus,...	OMIM:616260
Symmetrical Thalamic Calcifications	Polyhydramnios, Arrhythmia	ORPHA:1314
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Knee flexi...	OMIM:618733
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Intrauterine growth retardation, Recurrent skin infections, Atrial septal ...	OMIM:617744
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Micro Syndrome	Wide nasal bridge, Optic atrophy, Joint stiffness, Micrognathia, Anteverted nares, Scoliosis, Kyp...	ORPHA:2510
Erythrocytosis, Familial, 2	Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins	OMIM:263400
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intrauterine growth retardation, Death in childhood, Death in infancy, Neonatal death, Death in a...	OMIM:619055
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na...	OMIM:614069
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Unilateral radial aplasia, Eruption failure, Kyphosis, Micrognathia, Partial absence of thumb, 2-...	ORPHA:476126
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Congenital Disorder Of Glycosylation, Type Iie	Neonatal asphyxia, Retrognathia, Respiratory insufficiency, Overlapping fingers, Micrognathia, De...	OMIM:608779
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Overlapping toe, Micro...	OMIM:613026
Nanophthalmos 4	Microphthalmia	OMIM:615972
Developmental And Epileptic Encephalopathy 1	Microcephaly, Choreoathetosis, Microphthalmia	OMIM:308350
Infantile Liver Failure Syndrome 3	Platyspondyly, Abnormality of the epiphysis of the femoral head, Abnormal acetabulum morphology, ...	OMIM:618641
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Atresia of the external auditory canal, ...	OMIM:614900
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Sandal gap, Underdeveloped nasa...	OMIM:616835
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver...	ORPHA:42
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Underdeveloped nasal alae, Cleft mandible, Bulbous ...	ORPHA:364577
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Kyphosis, Chylothorax, Cleft upper lip, Lymphedema, Tetralog...	OMIM:153400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Low-set ears, Overlapping toe, Contracture of the distal interphalangeal joint of the ...	ORPHA:83617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy, Microphthalmia	OMIM:614830
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Tinnitus, Intracranial hemorrhage, Hypertension	ORPHA:231625
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Low-set ears, Generalized edema, Tetralogy of Fallot, Overlapping toe, R...	OMIM:617478
Vacterl With Hydrocephalus	Absence of the sacrum, Abnormal form of the vertebral bodies, Micrognathia, Anophthalmia, Hypopla...	ORPHA:3412
Aicardi Syndrome	Block vertebrae, Recurrent pneumonia, Butterfly vertebrae, Missing ribs, Rib fusion, Supernumerar...	OMIM:304050
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Flat face	OMIM:618154
Oculo-Palato-Cerebral Syndrome	Small hand, Joint hypermobility, Microcephaly, Microphthalmia, Short foot	ORPHA:2714
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Hearing impairment, Coronary artery fistula, Ventricular septal defect, Neonatal death, Atrial se...	OMIM:620024
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Bulbous nose, Anteverted nares, Micrognathia, Abnorma...	ORPHA:46059
Fetal Hydantoin Syndrome	Short distal phalanx of finger, Depressed nasal ridge, Triphalangeal thumb, Abnormality of the fo...	ORPHA:1912
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ...	ORPHA:97214
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Abnorma...	ORPHA:3236
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Micrognathia, Polydactyly, Short nose, Prominent metopi...	ORPHA:314655
Cerebrooculonasal Syndrome	Proboscis, Anteverted nares, Prominent nasal bridge, Malar flattening, Encephalocele, Postaxial p...	OMIM:605627
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Pes planus, Recurrent patellar dislocation, Macroce...	OMIM:615877
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Eczematoid dermatitis, Failure to thrive, Large for gestational age, Joint hypermobility, Cubitus...	OMIM:607721
Oculocerebrocutaneous Syndrome	Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Hea...	ORPHA:1647
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Abnormal cortical bone morphology, Agenesis of corpus callosum	ORPHA:2512
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers	OMIM:608703
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch...	ORPHA:50815
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ankle flexion contracture, Microretrognathia, Optic nerve hypoplasia, Eczematoid dermatitis, Bila...	ORPHA:468631
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hearing impairment, Ankyloglossia, Genu valgum, Hepatic steatosis, Ventricular septal defect, Bic...	OMIM:619475
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency	OMIM:609981
Coffin-Siris Syndrome 1	Low-set ears, Hearing impairment, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the pate...	OMIM:135900
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Abnormality of the temporomandibular joint, Cardiomyopathy, Absent muscle fib...	ORPHA:258
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Aplasia/Hypoplasia involving the nose, Low-set, posteriorly rotated ears, Narrow in...	ORPHA:990
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Atresia of the external auditory canal, Elbow dislocation, Micrognath...	ORPHA:199
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers	OMIM:614116
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Myositis, Increased inflammatory response, Myocarditis, Gait disturbance, Eosinophilia...	ORPHA:183
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped...	ORPHA:99103
Juvenile Amyotrophic Lateral Sclerosis	Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral scl...	ORPHA:300605
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Death in early adulthood, Femoral retroversion, Scoliosis, Kyph...	ORPHA:79107
Cockayne Syndrome A	Carious teeth, Square pelvis bone, Limitation of joint mobility, Hypoplastic iliac wing, Hip cont...	OMIM:216400
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Abscess, Abnormality of the lower limb...	ORPHA:36234
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased intramy...	ORPHA:502423
Whipple Disease	Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Anemia, Cachexia, Arthritis, Ataxia, My...	ORPHA:3452
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Tooth malposition, Lateral ventricle dilatation, Recurrent otitis media, L...	ORPHA:261537
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory failure	OMIM:263000
Phace Association	Arterial stenosis, Ventricular septal defect, Aortic aneurysm, Coarctation of aorta, Anomalous br...	OMIM:606519
Autosomal Dominant Cutis Laxa	Genu recurvatum, Osteopenia, Bronchiectasis, Delayed cranial suture closure, Talipes calcaneovalg...	ORPHA:90348
Arachnoid Cyst	Lower limb muscle weakness, Sciatica, Vertigo, Encephalocele, Subarachnoid hemorrhage, Hydrocepha...	ORPHA:2356
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Clubbing, Facial telangi...	OMIM:600376
Cockayne Syndrome	Congenital contracture, Contractures of the large joints, Abnormal epiphysis morphology, Skeletal...	ORPHA:191
Acrorenal-Mandibular Syndrome	Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi...	OMIM:200980
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scoliosis, Recurre...	OMIM:615220
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ...	ORPHA:93941
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling...	OMIM:186580
Warburg Micro Syndrome 4	Decreased muscle mass, Inability to walk, Secondary microcephaly, Microphthalmia, Flexion contrac...	OMIM:615663
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Short long bone, Anemia, Schistocytosis, Thrombocytopenia, ...	OMIM:301110
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Microcephaly, Micrognathia, Triangular face, Decreased body weight	OMIM:618342
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Carious teeth, Hypo...	OMIM:182250
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Large font...	OMIM:603116
Grange Syndrome	Coronary artery stenosis, Finger clinodactyly, Renal artery stenosis, Increased susceptibility to...	OMIM:602531
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Optic atrophy, Anteverted nares, Optic disc pallor, Short nose	OMIM:618437
Superficial Siderosis	Anosmia, Partial anosmia, Abnormal bleeding, Arteriovenous malformation, Lower limb muscle weakne...	ORPHA:247245
Renpenning Syndrome 1	Joint contracture of the hand, Hearing impairment, Micrognathia, Narrow mouth, Death in childhood...	OMIM:309500
Stromme Syndrome	Accessory spleen, Preaxial polydactyly, Micrognathia, Myopathy, Microcephaly, Microphthalmia, Opt...	OMIM:243605
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Tooth malposition, Lateral ventricle dilatation, Hyphema, Recurrent otitis...	ORPHA:261552
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Respiratory failure, Myelopathy, Death in childhood	OMIM:617186
Propionic Acidemia	Hepatomegaly, Arrhythmia, Cardiomyopathy	ORPHA:35
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type	Coarse facial features, Triangular face	ORPHA:293707
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Myopathy	OMIM:604377
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Tracheomalacia, Micrognathia, Congenital diaphragmatic hernia, Micropht...	ORPHA:268249
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch...	OMIM:609166
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves...	OMIM:113650
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Xerostomia, Finger syndactyly, Hearing impairment, Open bite, Ankyloglossia, N...	ORPHA:2907
Proteus Syndrome	Low-set ears, Rib exostoses, Carious teeth, Arteriovenous malformation, Finger syndactyly, Decrea...	ORPHA:744
Biliary, Renal, Neurologic, And Skeletal Syndrome	Low-set ears, Unbalanced atrioventricular canal defect, Broad thumb, Hearing impairment, Lateral ...	OMIM:619534
1P31P32 Microdeletion Syndrome	Moyamoya phenomenon, Craniosynostosis, Intraventricular hemorrhage	ORPHA:401986
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Hepatic cysts, Polydactyly, Vascular dilatation, Pancreatic cysts	OMIM:616307
Ehlers-Danlos Syndrome, Vascular Type	Periodontitis, Mitral valve prolapse, Talipes equinovarus, Finger joint hypermobility, Absent ear...	OMIM:130050
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Bronchiectasis, Pancytopenia, Splenomegaly, Iridocyclitis, W...	OMIM:181000
Peroxisome Biogenesis Disorder 11A (Zellweger)	Large face, Triangular face, Failure to thrive, Wide anterior fontanel	OMIM:614883
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Medulloblastoma	Elevated circulating hepatic transaminase concentration, Delayed cranial suture closure, Vertigo,...	ORPHA:616
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Hereditary Pheochromocytoma-Paraganglioma	Conductive hearing impairment, Sinus tachycardia, Congestive heart failure, Positive regitine blo...	ORPHA:29072
Duane Retraction Syndrome	Hearing impairment, Micrognathia, Sensorineural hearing impairment, Aplasia/Hypoplasia of the thu...	ORPHA:233
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Low-set ears, Skeletal muscle atrophy, Cardiomyopathy, Micrognathia, Pericardial effusion, High p...	OMIM:620089
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Madelung deformity, Lumbar scoliosis, Limb undergrowth, Hip dysplasia, Clinodacty...	ORPHA:319675
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Micrognathia, Down-sloping shoulders, Joint hypermobility, Triangular face, Br...	ORPHA:1974
Leukocyte Adhesion Deficiency Type Ii	Recurrent otitis media, Overlapping toe, Protruding tongue, Hepatomegaly, Depressed nasal ridge, ...	ORPHA:99843
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Ascites, Transudative pleural effusion	ORPHA:284227
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Myelofibrosis	ORPHA:729
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Failure to thrive, Unilateral microphthalmos, Microcephaly, Adducted thumb, Macrocephaly	OMIM:618874
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Dilation of Virchow-Robin spaces, Retrognathia, Lateral ventricle dilatation, Celiac...	ORPHA:544488
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ragged-red muscle fibers	ORPHA:1349
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telan...	ORPHA:774
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e...	ORPHA:199241
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Microphthalmia, Short metacarpal	OMIM:201180
Hypothyroidism, Congenital, Nongoitrous, 6	Wormian bones, Congenital hip dislocation, Delayed eruption of teeth	OMIM:614450
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Atresia of the external auditory canal, ...	ORPHA:672
Microlissencephaly-Micromelia Syndrome	Micromelia, 11 pairs of ribs, Short neck, Adducted thumb, Short nose	ORPHA:50810
White-Sutton Syndrome	Depressed nasal bridge, Broad thumb, Hypoplastic cervical vertebrae, Broad nasal tip, Depressed n...	OMIM:616364
45,X/46,Xy Mixed Gonadal Dysgenesis	Hearing impairment, Recurrent otitis media, Low-set, posteriorly rotated ears, Micrognathia, High...	ORPHA:1772
Hydranencephaly	Stiff neck, Dilatation of the ventricular cavity, Intrauterine growth retardation, Abnormal inter...	ORPHA:2177
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Hepatosplenomegaly, Genu valgum, Open mouth, Talipes equinovarus, Everted...	OMIM:301066
Dk1-Cdg	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomyocyte hy...	ORPHA:91131
Alagille Syndrome 2	Cholestatic liver disease, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Cholestasis...	OMIM:610205
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Depressed nasal bridge, Carious teeth, Neonatal respiratory distress,...	OMIM:244450
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, 11 pairs of ribs, 2-3 toe syndactyly, Microcephaly, Hemivertebrae, Po...	OMIM:264480
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Sprengel Deformity	Neck muscle hypoplasia, Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bi...	OMIM:184400
Frontofacionasal Dysplasia	Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, Encephalocele, D...	ORPHA:1791
3Q27.3 Microdeletion Syndrome	Arachnodactyly, Triangular face, Kyphoscoliosis	ORPHA:397695
Mitochondrial Complex I Deficiency, Nuclear Type 10	Optic atrophy, Respiratory failure	OMIM:618233
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplastic iliac wing, Jaundice, Foot polydactyly, Bile duct proliferation, Cone-shaped epiphyse...	OMIM:208500
Spastic Ataxia 5, Autosomal Recessive	Onion bulb formation	OMIM:614487
Papa Syndrome	Limitation of joint mobility, Crohn's disease, Myositis, Increased inflammatory response, Pustule...	ORPHA:69126
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Anteverted nares, Micrognathia, Talipes equinovarus, Brachydactyly, Fa...	ORPHA:1358
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Malar flattening, Short sternum, Short...	OMIM:222448
Mandibuloacral Dysplasia	Contractures of the large joints, Delayed cranial suture closure, Narrow nose, Micrognathia, Shor...	ORPHA:2457
Mowat-Wilson Syndrome	Aortic valve stenosis, Tooth malposition, Recurrent otitis media, Genu valgum, Open mouth, Sensor...	ORPHA:2152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Muscular dystrophy, Macrocephaly, Adducted thumb, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Malar rash, Lupus nephritis, Arthritis, Thrombocytopenia, Hemolytic anemia...	OMIM:152700
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Carious teeth, Broad nasal tip, Anteverted nares, Malar flattening, G...	ORPHA:357074
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Scoliosis, Camptodactyly of finger, Micrognathia, Camptodactyly of toe, Microceph...	ORPHA:261337
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,...	OMIM:619510
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong...	OMIM:613426
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ...	OMIM:615512
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Rippling Muscle Disease 1	Skeletal muscle hypertrophy	OMIM:600332
Poikiloderma With Neutropenia	Depressed nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Joint stiffness, ...	OMIM:604173
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Gait ataxia, Dysmetria, Weakness of facial musculature, Oval face, Microcephaly...	OMIM:617330
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Sandal gap, Retrognathia, Abnormal dent...	ORPHA:1812
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Supravalvular Aortic Stenosis	Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ...	OMIM:185500
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Osteopenia, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis...	OMIM:211600
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Mccune-Albright Syndrome	Abnormal facial skeleton morphology, Aneurysmal bone cyst, Dental malocclusion, Hearing impairmen...	ORPHA:562
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Broad nasal tip, Clinodactyly, Retrognathia, Overlapping toe, Microgna...	ORPHA:177907
Holoprosencephaly 14	Low-set ears, Cleft lip, Alobar holoprosencephaly, Proboscis, Anteverted nares, Ventricular septa...	OMIM:619895
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Atopic dermatitis, Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Micrognathia, 2-4 f...	OMIM:225060
Glutaryl-Coa Dehydrogenase Deficiency	Joint dislocation, Subdural hemorrhage, Vertigo, Retinal hemorrhage, Communicating hydrocephalus	ORPHA:25
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Cleft upper lip, Tetralogy of Fall...	OMIM:100300
Al Amyloidosis	Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Macroglossia, Xerostomia, Pos...	ORPHA:85443
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Abnormal motor nerve co...	ORPHA:466768
Glycogen Storage Disease Xii	Increased variability in muscle fiber diameter, Myopathy, Epicanthus, Ptosis, Muscle fiber splitting	OMIM:611881
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Ch...	ORPHA:746
Pallister-Killian Syndrome	Aortic valve stenosis, Low-set ears, Small hand, Postaxial foot polydactyly, Hearing impairment, ...	OMIM:601803
Glutaric Acidemia I	Symmetrical progressive peripheral demyelination, Delayed myelination	OMIM:231670
Traboulsi Syndrome	Broad hallux, Short finger, Joint hypermobility, Arachnodactyly, Cubitus valgus, Facial asymmetry...	OMIM:601552
Noonan Syndrome 9	Ventricular septal defect, Coarctation of aorta, Short neck, Prolonged prothrombin time, Pulmonic...	OMIM:616559
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Mandibulofacial Dysostosis, Guion-Almeida Type	Slender finger, Choanal atresia, Preaxial hand polydactyly, Anteverted nares, Micrognathia, Malar...	OMIM:610536
Gray Platelet Syndrome	Myelofibrosis, Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly	OMIM:139090
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia	OMIM:616604
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Anomalou...	ORPHA:99104
Craniosynostosis 4	Lambdoidal craniosynostosis, Coronal craniosynostosis, Depressed nasal bridge, Retrognathia, Bico...	OMIM:600775
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Macrocephaly, Lumbar hyperlordosis, Micrognathia, Microcephaly, Hip dysplasia, Microphthalmia, Cl...	OMIM:616975
Branchiootic Syndrome	Abnormality of the outer ear, Conductive hearing impairment, Branchial fistula, Hearing impairmen...	ORPHA:52429
Ehlers-Danlos Syndrome, Classic-Like, 1	Joint subluxation, Proximal amyotrophy, Muscle fiber splitting	OMIM:606408
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Subcutaneous hemorr...	ORPHA:727
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Optic atrophy, Sandal gap, Clinodactyly, Anteverted nares, Malar flatteni...	ORPHA:357001
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, Kyphoscoliosis, Short neck, Low hangi...	OMIM:615803
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Short nose	OMIM:620292
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Scoliosis, Skeletal muscle atrophy	ORPHA:96
Bullous Impetigo	Septic arthritis, Recurrent bacterial skin infections, Pustule	ORPHA:36237
Asbestos Intoxication	Respiratory failure, Clubbing of fingers	ORPHA:2302
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy, Onion bulb formation	ORPHA:320375
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent...	ORPHA:26793
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel...	ORPHA:254930
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Global Developmental Delay With Speech And Behavioral Abnormalities	Recurrent otitis media, Micrognathia, Joint hypermobility, Microcephaly, Macrocephaly, Triangular...	OMIM:619243
Anti-Glomerular Basement Membrane Disease	Anemia, Arthritis	ORPHA:375
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Muscular dystrophy, Skeletal muscle hypertrophy	OMIM:613158
Facial Clefting, Oblique, 1	Talipes calcaneovalgus, Deep palmar crease, Microphthalmia	OMIM:600251
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Peripheral demyelination	ORPHA:171629
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Arrhythmia...	ORPHA:254913
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Sacral dimple, Antev...	OMIM:247200
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Thrombocytope...	OMIM:187900
Holoprosencephaly 7	Flat face, Bilateral microphthalmos, Broad face, Microcephaly, Macrocephaly, Microphthalmia, Abse...	OMIM:610828
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Ventricular s...	OMIM:268300
Kabuki Syndrome 1	Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Lateral ven...	OMIM:147920
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Conductive hearing impairment, Abnormality of the vertebral column, Cleft upper lip, Micrognathia...	OMIM:601076
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Osteopenia, Congenital hip dislocation, Depressed nasal bridge,...	OMIM:225400
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Pulmonic stenosis, Sensorineural hearing impairment	OMIM:264140
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Anemia, Oligoarthri...	ORPHA:31205
Toluene Embryopathy	Micrognathia, Hypoplasia of the zygomatic bone, Short nose, Tapered finger	ORPHA:1920
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Charcot-Marie-Tooth Disease Type 1F	Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Decreased nerve ...	ORPHA:101085
Hemophilia B	Joint hemorrhage, Osteoarthritis	OMIM:306900
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu...	ORPHA:66529
Cutis Laxa, Autosomal Recessive, Type Iid	Failure to thrive, Kyphoscoliosis, Talipes equinovarus, Joint contracture, Hip dysplasia, Camptod...	OMIM:617403
Usher Syndrome Type 3	Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment	ORPHA:231183
Fibromuscular Dysplasia, Multifocal	Pulmonary artery aneurysm, Celiac artery dissection, Joint subluxation, Dental crowding, Tortuous...	OMIM:619329
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Finger syndactyly, Atresia of the external auditory...	ORPHA:2052
Familial Exudative Vitreoretinopathy	Microcephaly, Reduced bone mineral density, Microphthalmia	ORPHA:891
Waardenburg Syndrome, Type 2E	Anosmia, Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear...	OMIM:611584
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Wide nasal bridge, Low-set ears, Bilateral superior vena cava, Anteriorly placed anus, Hypertroph...	OMIM:220111
Kagami-Ogata Syndrome	Depressed nasal bridge, Limitation of joint mobility, Thoracic hypoplasia, Pursed lips, Anteverte...	ORPHA:254519
Hemihyperplasia, Isolated	Scoliosis, Skeletal muscle hypertrophy	OMIM:235000
Familial Idiopathic Dilatation Of The Right Atrium	Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo...	ORPHA:1677
Legius Syndrome	Hearing impairment, Abnormal sternum morphology, Vestibular schwannoma, Mitral valve prolapse, Po...	ORPHA:137605
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormal clavicle morphology, Abnormality of...	ORPHA:991
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia, Myelofibrosis	ORPHA:457077
Deeah Syndrome	Neonatal respiratory distress, Retrognathia, Overlapping fingers, Death in childhood, Death in in...	OMIM:619004
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Failure to thrive, Talipes valgus, Synostosis involving the 1st metacarpal, Slender build, Joint ...	ORPHA:466791
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Decreased body weight, Torticollis, Thoracic kyphoscol...	OMIM:618371
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Toe syndactyly, Finger syndactyly, Failure to thrive, Thumb contract...	OMIM:607932
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Skin rash, Keratoconjunctivitis s...	ORPHA:79128
Osteogenesis Imperfecta, Type Xx	Retrognathia, Bulbous nose, Kyphoscoliosis, Wormian bones, Multiple prenatal fractures, Vertebral...	OMIM:618644
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Hepatic steatosis, Cirrhosis, High palate, Bile duct proliferation, Esophageal varix...	OMIM:613658
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d...	OMIM:277300
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Surfactant Metabolism Dysfunction, Pulmonary, 3	Neonatal respiratory distress, Death in infancy, Neonatal death, Clubbing, Respiratory failure	OMIM:610921
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo...	OMIM:208920
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Delayed peripheral myelination	ORPHA:464282
Pterygium Colli, Isolated	Short nose	OMIM:177990
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Broad columella, Talipes equinovarus, Advanced eruption of teeth, Short nose	OMIM:617865
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Diamond-Blackfan Anemia 10	Low-set ears, Choanal atresia, Morgagni diaphragmatic hernia, Conductive hearing impairment, Hear...	OMIM:613309
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent fingertip pads, Tip-toe gait, Failure to thrive, Recurrent otitis media, Joint hypermob...	OMIM:619950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Muscular dystrophy, Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Hypophosphatasia, Adult	Carious teeth, Rickets, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Premature loss of p...	OMIM:146300
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Delayed cranial suture closure, Anteverted nares, Malar flattening, Conca...	OMIM:613038
Isolated Arrhinia	Tessier cleft, Underdeveloped nasal alae, Aplasia of the nose, Midline defect of the nose, Aplasi...	ORPHA:1134
Partington Syndrome	Gait disturbance, Triangular face	ORPHA:94083
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microcephaly, Microphthalmia	OMIM:251270
Meckel Syndrome	Accessory spleen, Postaxial foot polydactyly, Preaxial hand polydactyly, Micrognathia, Anophthalm...	ORPHA:564
Parietal Foramina 1	Wormian bones, Encephalocele	OMIM:168500
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Exocrine pancreat...	ORPHA:1667
Autosomal Dominant Popliteal Pterygium Syndrome	Choanal atresia, Toe syndactyly, Fibrous syngnathia, Finger syndactyly, Popliteal pterygium, Lip ...	ORPHA:1300
Craniofacial-Deafness-Hand Syndrome	Flat face, Ulnar deviation of the hand	OMIM:122880
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sep...	OMIM:618280
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Schisis Association	Encephalocele, Anencephaly, Micromelia, Spina bifida	ORPHA:63862
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal...	OMIM:128980
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Malar ...	ORPHA:93552
Intellectual Developmental Disorder With Neuropsychiatric Features	Triangular face	OMIM:617532
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus	ORPHA:397951
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Decreased nerve conduc...	ORPHA:206436
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure	OMIM:620166
Acrocephalopolydactylous Dysplasia	Micromelia, Short neck, Postaxial hand polydactyly, Craniosynostosis, Short nose	OMIM:200995
Orofaciodigital Syndrome Xiv	Low-set ears, Occipital encephalocele, Natal tooth, Micrognathia, Ventricular septal defect, Atri...	OMIM:615948
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Townes-Brocks Syndrome	Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Hearing impairment, Agenesis of corpu...	ORPHA:857
C Syndrome	Toe syndactyly, Limitation of joint mobility, Micrognathia, Congenital diaphragmatic hernia, Shor...	ORPHA:1308
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Optic atrophy, Sandal gap, Micromelia, Broad hallux, Hypoplasia of the zygomatic bone, Short neck...	OMIM:614800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Carpal synostosis, Femoral bowing, Humeroradial synostosis, Ulnar ...	OMIM:201750
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Jacobsen Syndrome	Toe clinodactyly, Wide nasal bridge, Toe syndactyly, Finger syndactyly, Short toe, Broad columell...	ORPHA:2308
Holoprosencephaly 9	Choanal atresia, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Br...	OMIM:610829
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Metatarsus valgus, Talipes equ...	ORPHA:261236
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Delayed eruption of teeth, Umbilical hernia, Generalized ...	ORPHA:2962
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Autoimmune hemol...	OMIM:616100
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Megalopapilla, Chronic sinusitis, Short ribs, Encephaloce...	OMIM:615636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Micro...	OMIM:613150
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Autosomal Dominant Progressive External Ophthalmoplegia	Hearing impairment, Limb muscle weakness, Myopathy, Arrhythmia, Hypomimic face, Quadriceps muscle...	ORPHA:254892
Fusariosis	Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple...	ORPHA:228119
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Shor...	OMIM:300912
Hellp Syndrome	Generalized edema, Hypotension, Elevated circulating hepatic transaminase concentration, Pleural ...	ORPHA:244242
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Myopathy, Gait disturbance, Flexion contracture, Skeletal muscle hypertr...	ORPHA:682
Okamoto Syndrome	Aortic valve stenosis, Low-set ears, Abnormal helix morphology, Exaggerated median tongue furrow,...	ORPHA:2729
Wrinkly Skin Syndrome	Wide nasal bridge, Osteopenia, Congenital hip dislocation, Microretrognathia, Carious teeth, Dela...	OMIM:278250
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy...	ORPHA:156
Castleman Disease	Weight loss, Thrombocytopenia, Anemia, Myelofibrosis, Decreased mean corpuscular volume	ORPHA:160
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Crescentic glomerulonephritis, Arthritis	OMIM:616414
Gastritis, Familial Giant Hypertrophic	Vascular dilatation, Giant hypertrophic gastritis	OMIM:137280
Reactive Arthritis	Aortic regurgitation, Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Enthes...	ORPHA:29207
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration...	ORPHA:228305
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Broad nasal tip, Aganglionic megacolon, Shortening of all distal phalanges of ...	OMIM:614207
American Trypanosomiasis	Periorbital edema, Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Hepatomegal...	ORPHA:3386
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial s...	ORPHA:980
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent...	OMIM:261740
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Retrognathia, Anteverted nares, Micrognathia, Neonatal death, Arthrogrypo...	OMIM:608013
Chops Syndrome	Optic atrophy, Tracheomalacia, Anteverted nares, Cervical C2/C3 vertebral fusion, Brachydactyly, ...	OMIM:616368
Transaldolase Deficiency	Failure to thrive, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Tria...	OMIM:606003
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Listeriosis	Arteritis, Abscess, Rhabdomyolysis, Pustule, Ataxia, Endocarditis, Osteomyelitis, Peritonitis, He...	ORPHA:533
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis	ORPHA:228302
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Finger swelling, Recurrent otitis media, Arrhythmia, Flexion contracture of...	OMIM:256040
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Muscular dystrophy, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Generalized Pustular Psoriasis	Lymphopenia, Obesity, Overweight, Leukocytosis, Palmoplantar pustulosis, Pustule, Erythroderma, A...	ORPHA:247353
Craniofacial Microsomia 1	Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit...	OMIM:164210
Fabry Disease	Congestive heart failure, Lymphedema, Transient ischemic attack, Angina pectoris, Arrhythmia, Lef...	OMIM:301500
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss...	OMIM:617321
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Hepatosplenomegaly, Conical tooth, Cerebral hemorrhage	OMIM:301081
Shigellosis	Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Failure to thrive in infancy, L...	ORPHA:810
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Micrognathia, Prominent nasal bridge, Optic disc pallor, Scol...	OMIM:300749
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anomalous origin of left subclavian artery, Osteopenia, Retrognathia, Abnormal heart morphology, ...	ORPHA:438213
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle w...	OMIM:220110
Khan-Khan-Katsanis Syndrome	Clinodactyly, Sacral dimple, Micrognathia, Postaxial polydactyly, Delayed closure of the anterior...	OMIM:618460
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Eczematoid dermatitis, Failure to thrive, Microphthalmia	OMIM:612379
Q Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Abnormal vascular morphology...	ORPHA:781
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right...	OMIM:610655
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Micrognathia, Optic atrophy, Short nose	OMIM:256600
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Micrognathia, Abnorma...	ORPHA:2363
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar...	OMIM:175050
D-Bifunctional Protein Deficiency	Osteopenia, Depressed nasal bridge, Retrognathia, Delayed cranial suture closure, Decreased nerve...	OMIM:261515
Neurofibromatosis-Noonan Syndrome	Low-set ears, Depressed nasal bridge, Secundum atrial septal defect, Malar flattening, Pectus exc...	OMIM:601321
Baraitser-Winter Syndrome 2	Secondary microcephaly, Microphthalmia	OMIM:614583
Nivelon-Nivelon-Mabille Syndrome	Micromelia, Optic disc coloboma, Trapezoidal vertebral body, Brachydactyly, Short phalanx of fing...	OMIM:600092
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Joint swelling, Splenomegaly, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, ...	ORPHA:85414
Fanconi Anemia, Complementation Group L	Absent thumb, Hypoplastic sacrum, Micrognathia, Microphthalmia, Anemia, Absent radius, Bilateral ...	OMIM:614083
Cerebrofaciothoracic Dysplasia	Narrow chest, Cleft upper lip, Low-set, posteriorly rotated ears, Wide mouth, Vertebral segmentat...	ORPHA:1394
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Microphthalmia With Linear Skin Defects Syndrome	Hearing impairment, Abnormal earlobe morphology, Micrognathia, Mitral regurgitation, Mitral valve...	ORPHA:2556
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Helsmoortel-Van Der Aa Syndrome	Wide nasal bridge, Small hand, Carious teeth, Broad nasal tip, Prominent fingertip pads, Sandal g...	OMIM:615873
Intellectual Developmental Disorder, X-Linked 112	Cupped ear, Volvulus, Abnormal heart morphology, Right aortic arch, Joint hypermobility, Kyphosco...	OMIM:301111
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Vertigo, Arrhythmia, Syncope, Heart block	ORPHA:871
Isolated Cleft Lip	Conductive hearing impairment, Velopharyngeal insufficiency, Non-midline cleft of the upper lip, ...	ORPHA:199302
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Overlapping toe, Knee flexion contracture, Joint hypermobility, Decreased body we...	OMIM:617402
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Poliomyelitis	Stiff neck, Abnormal motor nerve conduction velocity, Respiratory failure, Respiratory failure re...	ORPHA:2912
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Hearing impairment, Preaxial hand pol...	ORPHA:2307
Pneumocystosis	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency	ORPHA:723
Familial Cold Urticaria	Conjunctivitis, Arthritis	ORPHA:47045
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Tooth abscess, Rickets, Bowing of the legs	ORPHA:89937
Acetazolamide-Responsive Myotonia	Gait disturbance, Skeletal muscle hypertrophy	ORPHA:99736
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Limitation of joint mobility, Cardiomyopathy, Bundle bra...	ORPHA:93672
Mitochondrial Dna-Associated Leigh Syndrome	Segmental peripheral demyelination/remyelination, Optic atrophy, Demyelinating peripheral neuropathy	ORPHA:255210
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Hearing impairment, Death in childhood, Death in adolescence, Hepatomegaly, Osteoporosis...	OMIM:560000
Coffin-Siris Syndrome	Short 5th finger, Wide nasal base, Recurrent upper respiratory tract infections, Broad nasal tip,...	ORPHA:1465
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Respiratory failure	OMIM:620327
Thrombotic Thrombocytopenic Purpura	Stroke, Arrhythmia, Myocardial infarction	ORPHA:54057
Meningioma	Upper limb muscle weakness, Lower limb muscle weakness, Abnormality of the sense of smell, Tinnit...	ORPHA:2495
Syndromic Diarrhea	Aortic regurgitation, Wide nasal bridge, Peripheral pulmonary artery stenosis, Hepatic fibrosis, ...	ORPHA:84064
Distal Deletion 9P	Wide nasal bridge, Short neck, Brachydactyly, Short nose	ORPHA:1642
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Dend Syndrome	Anteverted nares, Clinodactyly of the 4th finger, Short nose, Prominent metopic ridge	ORPHA:79134
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Abnormality of the nose, Cerebral ischemia, O...	ORPHA:900
Brody Disease	Flexion contracture, Skeletal muscle hypertrophy	OMIM:601003
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Respiratory failure	OMIM:620296
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	2-3 toe syndactyly, Elevated hemoglobin A1c, Triangular face, Failure to thrive	OMIM:616539
Prolidase Deficiency	Concave nasal ridge, Depressed nasal bridge, Micrognathia, Short nose	OMIM:170100
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Microcephal...	ORPHA:420741
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy	OMIM:617675
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr...	OMIM:605714
Mowat-Wilson Syndrome	Tooth malposition, Recurrent otitis media, Ventricular septal defect, Agenesis of corpus callosum...	OMIM:235730
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Short nose	OMIM:611936
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Micrognathia, ...	OMIM:619991
Feingold Syndrome 1	Accessory spleen, Short thumb, Short toe, Polysplenia, Micrognathia, 2-3 toe syndactyly, Microcep...	OMIM:164280
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Limitation of joint mobility, Large fontanelles, Aplasia/Hypoplas...	ORPHA:90153
Aortic Valve Disease 2	Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa...	OMIM:614823
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Fraser Syndrome 2	Underdeveloped nasal alae, Short neck, Cutaneous syndactyly, Respiratory failure, Wide nose	OMIM:617666
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Coronal craniosynostosis, Microphthalmia	ORPHA:228390
Atrial Septal Defect 9	Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect	OMIM:614475
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, R...	OMIM:607625
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal ...	OMIM:618775
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Respiratory failure, Amyotrophic lateral sclerosis	ORPHA:803
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations...	ORPHA:99094
Avian Influenza	Respiratory failure, Miscarriage	ORPHA:454836
Visceral Myopathy, Familial, With External Ophthalmoplegia	Vascular dilatation, Spontaneous esophageal perforation	OMIM:277320
Sweet Syndrome	Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ...	ORPHA:3243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat...	OMIM:609040
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Microretrognathia, Broad hallux, Lobulated tongue, Low-set, posterior...	ORPHA:434179
Bor Syndrome	Hearing impairment, Branchial cyst, Retrognathia, Atresia of the external auditory canal, Stenosi...	ORPHA:107
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Hearing impairment, Colonic atresia, Anteriorly placed anus, Cong...	OMIM:309801
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Depressed nasal bridge, Delayed eruption of teeth, Micromelia, Retrognathia...	ORPHA:1675
Immunodeficiency 23	Allergic rhinitis, Aortic root aneurysm, Conductive hearing impairment, Eczematoid dermatitis, Ch...	OMIM:615816
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Rachitic rosary, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone minera...	ORPHA:157215
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Polyarticular arthritis, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculop...	OMIM:142680
Sifrim-Hitz-Weiss Syndrome	Short clavicles, Wormian bones, Fused cervical vertebrae, Flat acetabular roof, Short femoral nec...	OMIM:617159
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of the ankle, Painless fractures due to injury, Fasciitis, Difficulty walking, Osteom...	ORPHA:642
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Acne, Intracranial hemorrhage, Hypertension	ORPHA:90795
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Serkal Syndrome	Malrotation of small bowel, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal ...	ORPHA:139466
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Broad nasal tip, Retro...	OMIM:617157
Diamond-Blackfan Anemia 8	Wide nasal bridge, Short nose	OMIM:612563
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Microphthalmia, Syndromic 3	Butterfly vertebrae, Ventricular septal defect, Missing ribs, Supernumerary ribs, Rib fusion, Sen...	OMIM:206900
Distal Deletion 3P	Micrognathia, Microcephaly, Postaxial hand polydactyly, Clinodactyly of the 5th finger, Triangula...	ORPHA:1620
Kearns-Sayre Syndrome	Ptosis, Ragged-red muscle fibers	OMIM:530000
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Hearing impairment, Abnormal rib morphology, Vertebral segmentation defect	ORPHA:2578
Chikungunya	Periostitis, Joint stiffness, Skin rash, Maculopapular exanthema, Joint swelling, Synovitis, Crus...	ORPHA:324625
Kawasaki Disease	Vasculitis, Strawberry tongue, Hepatitis, Double outlet right ventricle with subpulmonary ventric...	ORPHA:2331
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Respiratory insufficiency, Death in childhood, Death in infancy, Optic neuropathy,...	OMIM:610505
Leigh Syndrome	Optic atrophy, Respiratory failure, Multiple joint contractures	ORPHA:506
Idiopathic Pulmonary Hemosiderosis	Respiratory failure	ORPHA:99931
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Distal amyotrophy, Slender build, Ragged-red muscle fibers, Cachexia, Weight loss, Ptosis	OMIM:603041
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Equinus calcaneus, Joint hypermobility, 2-3 toe syndactyly, Prominent nasal...	ORPHA:522077
Combined Oxidative Phosphorylation Deficiency 12	Ptosis, Ragged-red muscle fibers, Failure to thrive	OMIM:614924
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Hepatic failure, Cardiomyopathy, Hepatic steatosis, Agenesis of corpus callo...	ORPHA:228308
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho...	ORPHA:555874
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:613845
Microform Holoprosencephaly	Choanal atresia, Narrow nasal bridge, Anteverted nares, Midnasal stenosis, Holoprosencephaly, Sco...	ORPHA:280200
Monosomy 13Q14	Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Microcephaly, Brachydactyly, Mi...	ORPHA:1587
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormality of the dentition, Hearing impairment, Camptodactyly of finger, Abnormal dental enamel...	ORPHA:3220
Hyperimmunoglobulinemia D With Periodic Fever	Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Arthritis, Ataxia	ORPHA:343
Infant Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70587
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Generalized edema, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Ascites...	OMIM:226300
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Legionnaires Disease	Hypotension, Hepatitis, Splenomegaly, Arrhythmia, Pancreatitis, Recurrent pharyngitis, Myocarditi...	ORPHA:549
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Retrognathia, Anteverted nares, Hypoplasia of teeth, Short nose	OMIM:234050
Isotretinoin Embryopathy-Like Syndrome	Anotia, Micrognathia, Conotruncal defect, Hydrocephalus, Cleft palate, Microtia	OMIM:243440
Lesch-Nyhan Syndrome	Anemia, Gout	ORPHA:510
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Skin rash, Arrhythmia, Hepatomegaly, Cardia...	ORPHA:99745
Agel Amyloidosis	Xerostomia, Bruising susceptibility, Cardiomyopathy, Hearing impairment, Blepharochalasis, Orthos...	ORPHA:85448
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Ataxia, Eczematoid dermatitis, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomeg...	OMIM:615688
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Acute Lung Injury	Respiratory failure	ORPHA:178320
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Depressed nasal bridge, Secundum atrial septal defect, Hearing impairment, Tibial...	OMIM:613355
Glycogen Storage Disease Ia	Doll-like facies, Decreased muscle mass, Gout, Pancreatitis, Osteoporosis	OMIM:232200
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Osteomyelitis, Broad ribs, Splenomegaly, Joint swelling, Skin rash, Pust...	OMIM:612852
Adult Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 58	Epicanthus, Ptosis, Optic atrophy, Ragged-red muscle fibers	OMIM:620451
Abetalipoproteinemia	Osteopenia, Talipes equinovarus, Respiratory failure, Kyphoscoliosis	ORPHA:14
Nijmegen Breakage Syndrome	Depressed nasal bridge, Retrognathia, Prominent nose, Prominent nasal bridge, Short neck, Convex ...	ORPHA:647
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Failure to thrive, Neutropenia, Microphthalmia	OMIM:616395
Acute Liver Failure	Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Elevated ci...	ORPHA:90062
Acromelic Frontonasal Dysostosis	Low-set ears, Short tibia, Encephalocele, Agenesis of corpus callosum, Talipes equinovarus, Bifid...	OMIM:603671
Alpha-Thalassemia	Generalized edema, Cholelithiasis, Hyperplasia of the maxilla, Congestive heart failure, Malar pr...	ORPHA:846
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti...	ORPHA:254534
Psoriasis 14, Pustular	Polyarticular arthritis, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutroph...	OMIM:614204
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R...	ORPHA:79303
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Increased susceptibility to fracture...	ORPHA:77261
Immunodeficiency 68	Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ...	OMIM:612260
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis	OMIM:609939
Fanconi-Bickel Syndrome	Osteopenia, Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentrati...	ORPHA:2088
Cystinosis	Myopathy, Portal hypertension, Dehydration, Rickets	ORPHA:213
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Limitation of joint mobility, Anteverted nares, Abnormal thumb morphology...	ORPHA:2719
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Craniosynostosis, Increased ...	OMIM:241520
Neurooculocardiogenitourinary Syndrome	Secondary microcephaly, Microphthalmia, Abnormality of the palmar creases	OMIM:618652
Lymphangiectasia, Intestinal	Edema, Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Pedal edema	OMIM:152800
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert...	OMIM:171300
Currarino Syndrome	Anal stenosis, Absence of the sacrum, Bifid sacrum, Anal fistula, Perianal abscess, Vascular dila...	OMIM:176450
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Triangular face	OMIM:619264
White-Kernohan Syndrome	Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Anteverted nares, Metopic synost...	OMIM:619426
Autoimmune Hepatitis	Inflammation of the large intestine, Splenomegaly, Sclerosing cholangitis, Glomerulonephritis, Ar...	ORPHA:2137
Antisynthetase Syndrome	Joint dislocation, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis	ORPHA:81
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory insufficiency, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Osteo...	ORPHA:365
Coffin-Siris Syndrome 12	Slender finger, Depressed nasal bridge, Broad thumb, Short thumb, Ridged cranial sutures, Delayed...	OMIM:619325
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Respiratory failure, Respiratory insufficiency	OMIM:618329
Hydrolethalus Syndrome 1	Low-set ears, Micrognathia, Ventricular septal defect, Agenesis of corpus callosum, Talipes equin...	OMIM:236680
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart...	OMIM:609015
Microphthalmia-Brain Atrophy Syndrome	Microcephaly, Bilateral microphthalmos	ORPHA:77299
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Osteopenia, Inflammation of the large intestine, Periodont...	ORPHA:79259
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Respiratory failure	ORPHA:3240
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Scoliosis, Protruding tongue, Pulmonic stenosis	OMIM:614325
Lymphangiectasia, Pulmonary, Congenital	Flat face, Pedal edema	OMIM:265300
Hec Syndrome	Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia, Polyhydramnios, Communicating hydrocephalus	ORPHA:2119
East Syndrome	Peripheral axonal neuropathy, Peripheral hypomyelination	ORPHA:199343
Juvenile Polyposis Syndrome	Low-set ears, Abnormal onset of bleeding, Arteriovenous malformation, Clubbing of fingers, Colon ...	ORPHA:2929
Tracheobronchopathia Osteochondroplastica	Calcification of cartilage, Respiratory insufficiency	ORPHA:3348
9q subtelomeric deletion syndrome	Anteverted nares, Short nose	DECIPHER:52
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Microphthalmia	OMIM:613730
Adenylosuccinase Deficiency	Anteverted nares, Short nose, Prominent metopic ridge	OMIM:103050
Immunodeficiency 82 With Systemic Inflammation	Pustular rash, Osteomalacia, Recurrent otitis media, Weight loss, Recurrent skin infections, Oste...	OMIM:619381
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Rickets, Eczematoid dermatitis, Celiac d...	OMIM:212750
Staphylococcal Necrotizing Pneumonia	Respiratory failure	ORPHA:36238
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Short nose, Metopic synostosis	OMIM:613735
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Micrognathia, Congenital hepatic fibrosis, Agenesis of corpus ...	ORPHA:93271
Tolchin-Le Caignec Syndrome	Micrognathia, Diastasis recti, Arachnodactyly, Clinodactyly of the 5th finger, Triangular face, L...	OMIM:618971
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Chilblains, Skin rash,...	OMIM:615846
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Prominent nasal bridge, Scoliosis, Short nose	OMIM:619179
Woolly Hair Nevus	Enlarged vestibular aqueduct, Widely-spaced incisors, Brachydactyly	ORPHA:79414
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral amyloid angiopathy, Death in early adulthood, Cerebral hemorrhage	ORPHA:100006
Stiff Person Spectrum Disorder	Difficulty walking, Lumbar hyperlordosis, Falls, Paraspinal muscle hypertrophy	ORPHA:3198
Behçet Disease	Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Myositis, Increased inflamm...	ORPHA:117
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Autoimmune hemolyt...	ORPHA:100026
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Depressed nasal...	OMIM:614188
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Decreased motor nerve conduction velocity, Facial paralysis, Decreased number of p...	ORPHA:99949
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure	ORPHA:542323
Phakomatosis Pigmentokeratotica	Lymphedema, Hemiatrophy, Hypophosphatemic rickets, Arrhythmia, Raynaud phenomenon, Spina bifida, ...	ORPHA:2874
Acute Interstitial Pneumonia	Respiratory failure	ORPHA:79126
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Underdeveloped nasal alae, Death in infancy, Abnormal nostril morpholo...	ORPHA:2315
Vici Syndrome	Chronic mucocutaneous candidiasis, Failure to thrive, Lymphopenia, Leukopenia, Micrognathia, Decr...	OMIM:242840
3-Methylglutaconic Aciduria Type 7	Respiratory failure	ORPHA:445038
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Branchial fistula, Retrognathia, Cupped ear, Sen...	OMIM:602588
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Hereditary Spherocytosis	Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary...	ORPHA:822
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Trichothiodystrophy 1, Photosensitive	Microcephaly, Keratoconjunctivitis sicca, Erythroderma, Microphthalmia, Flexion contracture, Smal...	OMIM:601675
Systemic Capillary Leak Syndrome	Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Pancreatitis, Myocarditis, Pedal edem...	ORPHA:188
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microcephaly, Microphthalmia	OMIM:152950
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Von Hippel-Lindau Disease	Macular edema, Upper limb muscle weakness, Cardiomyopathy, Vertigo, Palpitations, Neoplasm of the...	ORPHA:892
Lyme Disease	Infectious encephalitis, Joint swelling, Arthritis, Uveitis	ORPHA:91546
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory failure, Clubbing, Respiratory insufficiency	OMIM:610913
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Narrow face, Broad hallux, Clinodactyly, Micrognathia, Single transverse palmar crease, Thoracic ...	OMIM:620186
Tetraamelia Syndrome 1	Micrognathia, Hypoplastic pelvis, Congenital diaphragmatic hernia, Microphthalmia, Tetraamelia, A...	OMIM:273395
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert...	ORPHA:2234
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Depressed nasal bridge, Abnormal epiphysis morphology, Large posterior fontanelle, Delayed crania...	ORPHA:226307
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Lipodystrophy, Familial Partial, Type 4	Skeletal muscle hypertrophy	OMIM:613877
Nelson Syndrome	Lower limb muscle weakness, Abnormality of the sphenoid sinus, Quadriceps muscle atrophy, Intracr...	ORPHA:199244
Thyrotoxic Periodic Paralysis	Lower limb muscle weakness, Obesity, Rhabdomyolysis, Weight loss, Increased intramyocellular lipi...	ORPHA:79102
Osteopetrosis With Renal Tubular Acidosis	Prominent floating ribs, Tooth malposition, Abnormality of the dentition, Conductive hearing impa...	ORPHA:2785
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Micrognathia, Enterocolitis, Failure to thrive, Microphthalmia	OMIM:301108
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyop...	ORPHA:159
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Carnitine Palmitoyltransferase Ii Deficiency	Hepatic failure, Cardiomyopathy, Myopathy, Rhabdomyolysis, Hepatic calcification, Agenesis of cor...	ORPHA:157
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ...	ORPHA:52368
Hypophosphatemic Bone Disease	Osteomalacia, Rickets, Bowing of the legs	OMIM:146350
Diarrhea 10, Protein-Losing Enteropathy Type	Low-set ears, Hematochezia, Recurrent upper respiratory tract infections, Protein-losing enteropa...	OMIM:618183
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Short neck, Sho...	OMIM:113620
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Short nose, Joint hypermobility	OMIM:605309
Myotonia Congenita, Autosomal Recessive	Muscle hypertrophy of the lower extremities, Skeletal muscle hypertrophy	OMIM:255700
Isolated Thyroid-Stimulating Hormone Deficiency	Depressed nasal bridge, Abnormal epiphysis morphology, Large posterior fontanelle, Delayed crania...	ORPHA:90674
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Short distal phalanx of finger, Abnormal ilium morphology, Anteverted nar...	OMIM:614080
Microphthalmia, Syndromic 1	Low-set ears, Tooth malposition, Joint contracture of the hand, Clinodactyly, Hearing impairment,...	OMIM:309800
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Bile Acid Conjugation Defect 1	Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:619232
Bloom Syndrome	Retrognathia, Micrognathia, Malar flattening, Rhinitis, Respiratory failure	ORPHA:125
Incontinentia Pigmenti	Keratitis, Leukocytosis, Kyphoscoliosis, Supernumerary ribs, Microcephaly, Eosinophilia, Hypoplas...	OMIM:308300
Adiposis Dolorosa	Obesity, Recurrent skin infections, Arthritis	ORPHA:36397
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Joint stiffness, Lumbar hyperlordosis, Lumbar kyphosis, Short neck, Hydrocephalus,...	ORPHA:505248
Glycogen Storage Disease Ib	Inflammation of the large intestine, Doll-like facies, Gout, Splenomegaly, Pancreatitis, Neutrope...	OMIM:232220
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, 11 pairs of ribs, Anophthalmia, Hemivertebrae, Microphthalmia	ORPHA:77298
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Failure to thrive, Upslanted palpebral fissure, Ragged-red muscle fibers...	OMIM:252010
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Splenomegaly, Arthritis, Viral hepatitis	ORPHA:91138
Paramyotonia Congenita	Skeletal muscle hypertrophy	OMIM:168300
Dowling-Degos Disease	Palmar pits, Abnormality of the hand, Acne inversa, Arthritis	ORPHA:79145
Frontonasal Dysplasia 2	Craniosynostosis, Microcephaly, Microphthalmia	OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Optic atrophy, Muscular dystrophy, Flexion contracture	OMIM:613154
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Megaduodenum, Perimemb...	OMIM:611376
Congenital Tufting Enteropathy	Punctate keratitis, Weight loss, Failure to thrive, Arthritis	ORPHA:92050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Sensorineural hearing impairment, Arrhythmia, Mildly reduced left ventricular ejection fraction	OMIM:618098
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Generalized limb muscle atrophy, Talipes valgus, Narrow nose, Intrauterine ...	OMIM:618891
Lipodystrophy, Congenital Generalized, Type 1	Generalized muscular appearance from birth, Long foot, Splenomegaly, Cystic angiomatosis of bone,...	OMIM:608594
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Stippled calcification in carpal bones, Respiratory failure, Clubbing ...	ORPHA:60025
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad nasal tip, Short 5th toe, 2-4 toe cutaneous syndactyly, Retrognathia, Underdeveloped nasal ...	ORPHA:268261
Blau Syndrome	Posterior uveitis, Limitation of joint mobility, Keratitis, Polyarticular arthritis, Camptodactyl...	ORPHA:90340
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Carious teeth, Broad nasal tip, Delayed eruption of teeth...	ORPHA:2834
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Mitral regurgitation, Hepatic steatosis, Premature arteriosclerosis, Calcif...	ORPHA:391665
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc...	ORPHA:308552
Pituitary Deficiency Due To Rathke Cleft Cysts	Abnormality of the sphenoid sinus, Intracranial hemorrhage, Hydrocephalus	ORPHA:91350
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Cleft upper lip, Arrhythmia, Varicose veins, Recurrent skin ...	ORPHA:33001
Coenzyme Q10 Deficiency, Primary, 1	Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscle fibers	OMIM:607426
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we...	ORPHA:98908
Otodental Syndrome	Otitis media with effusion, Periodontitis, Microphthalmia, Lens coloboma, Long face	ORPHA:2791
Lipodystrophy, Congenital Generalized, Type 2	Generalized muscular appearance from birth, Long foot, Splenomegaly, Cystic angiomatosis of bone,...	OMIM:269700
Neuroocular Syndrome 1	Genu recurvatum, Prominent fingertip pads, Tibial torsion, Hyperextensibility of the finger joint...	OMIM:619539
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill...	OMIM:301074
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Mitten deformity, Enamel hypoplasia, Osteoporosis, Respiratory fai...	ORPHA:79404
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Bilateral sensorineural hearing impairment, Rickets, Dehydration	OMIM:602722
Acute Transverse Myelitis	Upper limb muscle weakness, Distal lower limb muscle weakness, Subarachnoid hemorrhage, Paralytic...	ORPHA:139417
Spontaneous Periodic Hypothermia	Arrhythmia, Skin rash	ORPHA:29822
Scorpion Envenomation	Acute pancreatitis, Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch ...	ORPHA:466677
Mercury Poisoning	Respiratory failure	ORPHA:330021
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Hepatic failure, E...	ORPHA:100078
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Difficulty walking, Hepatosplenomegaly, Chilblains, Multipl...	ORPHA:51
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Retrognathia, Joint hypermobility, Polyhydramnios, High palate	ORPHA:456328
Holoprosencephaly-Postaxial Polydactyly Syndrome	Micrognathia, Talipes, Microcephaly, Microphthalmia, Postaxial hand polydactyly	ORPHA:2166
Xq21 Microdeletion Syndrome	Dilatated internal auditory canal, Conductive hearing impairment, Upper limb muscle weakness, Sta...	ORPHA:1435
Abdominal Obesity-Metabolic Syndrome 3	Stroke, Hypertension, Myocardial infarction, Coronary artery stenosis	OMIM:615812
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Micrognathia, Single transverse palmar crease, Microphthalmia, Clinodactyly of t...	OMIM:613884
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Wide nasal bridge, Broad nasal tip, Sandal gap, Umbilical hernia, Malar flatten...	OMIM:620330
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent otitis media, Situs inversus totalis, Atrial situs inversus, Ven...	OMIM:615067
Hypercholanemia, Familial 1	Steatorrhea, Pruritus, Fat malabsorption, Rickets	OMIM:607748
Dermatomyositis	Arrhythmia, Periorbital edema, Vasculitis, Heliotrope rash, Myositis, Myocardial infarction, Arth...	ORPHA:221
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Arthritis, Ataxia	ORPHA:411543
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n...	OMIM:607676
Simple Cryoglobulinemia	Nephritis, Chronic lymphatic leukemia, Weight loss, Membranoproliferative glomerulonephritis, Art...	ORPHA:91139
Acys Amyloidosis	Stroke, Cerebral amyloid angiopathy, Death in early adulthood, Cerebral hemorrhage	ORPHA:100008
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Infectious encephalitis, Pros...	OMIM:307200
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormal form of the vertebral bodies, Hearing impairment, Abnormal ear morphology, Vertebral seg...	ORPHA:3109
Atrial Septal Defect 1	Aortic valve stenosis, Second degree atrioventricular block, Secundum atrial septal defect, Tetra...	OMIM:108800
Usher Syndrome, Type Ig	Abnormal vestibular function, Hypoplasia of the nasal bone, Sensorineural hearing impairment	OMIM:606943
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings	ORPHA:99956
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he...	ORPHA:70591
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat...	OMIM:256800
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Allergic rhinitis, High-frequency hearing impairment, Abnormal joint morph...	OMIM:176690
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating hepatic transaminase concentration, Abnormal EKG, Sensorineural hearing impa...	ORPHA:480864
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Profound sensorineural hearing impairment, Arrhythmia, Syncope, Bilateral sen...	ORPHA:90647
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous...	ORPHA:79138
Sturge-Weber Syndrome	Pulmonary embolism, Abnormal cerebral vascular morphology, Gingival overgrowth, Hyperostosis, Hea...	ORPHA:3205
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Camptodacty...	ORPHA:2908
Thoracic Outlet Syndrome	Edema, Abnormal rib morphology, Varicose veins	ORPHA:97330
Gitelman Syndrome	Chondrocalcinosis, Prominent U wave, Abnormal T-wave, Vertigo, Pericardial effusion, Palpitations...	ORPHA:358
Reynolds Syndrome	Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis	ORPHA:779
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short 5th finger, Wide nasal bridge, Carious teeth, Broad nasal tip, Short thumb, Short finger, B...	OMIM:619522
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Matthew-Wood Syndrome	Failure to thrive, Anophthalmia, Congenital diaphragmatic hernia, Abnormal spleen morphology, Mic...	ORPHA:2470
Cadds	Micrognathia, Short nose	ORPHA:369942
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Aganglionic megacolon, Brachydactyly, Short nose, Short palm	ORPHA:3339
Autosomal Dominant Polycystic Kidney Disease	Aortic root aneurysm, Dilatation of the cerebral artery, Hepatic cysts, Mitral valve prolapse, Ab...	ORPHA:730
Brain-Lung-Thyroid Syndrome	Neonatal respiratory distress, Respiratory failure	ORPHA:209905
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Myopathy, Osteomalacia	OMIM:109130
Xeroderma Pigmentosum, Complementation Group D	Keratitis, Microcephaly, Keratoconjunctivitis sicca, Ataxia, Microphthalmia, Conjunctivitis, Chor...	OMIM:278730
Renal And Mullerian Duct Hypoplasia	Micrognathia, Short nose	OMIM:266810
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity, Microphthalmia	ORPHA:363741
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the dentition, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Cleft upper lip, Arrhythmia, Tetraamelia, Abnormal pinna morphology	OMIM:273400
Primary Sjögren Syndrome	Normocytic anemia, Arteritis, Parotitis, Chronic active hepatitis, Lymphopenia, Leukopenia, Polya...	ORPHA:289390
Tick-Borne Encephalitis	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hearing impairm...	ORPHA:297
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal dental morphology, Arrhythmia, Pruritus, Superficial dermal perivascular inflammatory in...	OMIM:618531
Liddle Syndrome	Arrhythmia, Cerebral ischemia, Hypertension	ORPHA:526
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Obesity, Microphthalmia	OMIM:601794
Paganini-Miozzo Syndrome	Triangular face	OMIM:301025
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Gout, Death in childhood, Convex nasal ridge, Short nose	OMIM:300661
Cardiogenic Shock	Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea...	ORPHA:97292
Hereditary Xanthinuria	Rheumatoid arthritis, Gout, Myopathy, Arthropathy	ORPHA:3467
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Genu valgum, Hydrocephalus, Convex nasal ridge, Flexion contracture, Short nose, O...	OMIM:619321
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Arthri...	OMIM:210250
Immunodeficiency 49	Wormian bones, Micrognathia, Natal tooth, Umbilical hernia	OMIM:617237
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Serositis, Arthritis, N...	OMIM:260920
Myotonia Congenita, Autosomal Dominant	Skeletal muscle hypertrophy	OMIM:160800
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec...	OMIM:300755
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Rickets	OMIM:611590
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Arrhythmia, Delayed eruption of teeth, Myopathy	ORPHA:2238
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Narrow face, Microcephaly, Macroglossia, Triangular face, Long face	ORPHA:93947
Myotonia, Potassium-Aggravated	Skeletal muscle atrophy, Skeletal muscle hypertrophy	OMIM:608390
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Tympanosclerosis, Enamel h...	OMIM:240300
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Caro...	ORPHA:31150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Muscular dystrophy, Congenital contracture, Micrognathia, Microcephaly, Microphthalmia, Buphthalm...	OMIM:236670
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Atopic dermatitis, Osteomyelitis, Pustule, Arrhythmia, Dehydra...	ORPHA:171876
Multiple Benign Circumferential Skin Creases On Limbs	Lower limb asymmetry, Micrognathia, Microcephaly, Microphthalmia, Upper limb asymmetry	ORPHA:2505
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Acquired Methemoglobinemia	Vertigo, Palpitations, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Cidec-Related Familial Partial Lipodystrophy	Pancreatitis, Calf muscle hypertrophy, Skeletal muscle hypertrophy	ORPHA:435651
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Psoriasiform dermatitis, Eosinophilic infiltration ...	OMIM:615508
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Arrhythmia, Death in infancy	ORPHA:168593
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ...	ORPHA:402075
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Talipes equinovarus, Coarse facial features, Pes planus, Microcephaly, Triangular face	OMIM:617260
3-Methylglutaconic Aciduria, Type Viii	Respiratory arrest, Respiratory failure, Death in infancy, Neonatal death	OMIM:617248
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Recurrent otitis media, Joint hypermobility, Pes planus, Triangular face, Macr...	OMIM:619575
Linear Nevus Sebaceus Syndrome	Genu recurvatum, Vertebral segmentation defect, Facial asymmetry, Microphthalmia, Biparietal narr...	ORPHA:2612
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology	OMIM:600057
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Triangular face, Optic nerve hypoplasia	ORPHA:65288
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Osteopenia, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthrit...	ORPHA:227990
Autoinflammatory Disease, Systemic, With Vasculitis	Atopic dermatitis, Failure to thrive, Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ...	OMIM:620376
Choreoacanthocytosis	Peroneal muscle atrophy, Distal amyotrophy, Falls, Equinovarus deformity, Absent Achilles reflex,...	ORPHA:2388
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis, Arthritis, Neutro...	OMIM:249100
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Chondrocalcinosis, Abnormally large globe, Failure to thrive, Macrocephaly, Triangula...	OMIM:241200
Alternating Hemiplegia Of Childhood	Downturned corners of mouth, Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Exa...	ORPHA:2131
Phace Syndrome	Aortic root aneurysm, Abnormal sternum morphology, Tetralogy of Fallot, Abnormal heart morphology...	ORPHA:42775
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Lymphatic Filariasis	Ankle swelling, Lymphadenitis, Hypereosinophilia, Orchitis, Knee osteoarthritis, Glomerulonephrit...	ORPHA:2035
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Cardiomyopathy, Lower limb muscle weakness, Dilatation o...	ORPHA:363623
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Plague	Hypotension, Inflammation of the large intestine, Abnormal bleeding, Hearing impairment, Chapped ...	ORPHA:707
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def...	OMIM:617205
Melas	Optic atrophy, Failure to thrive, Ragged-red muscle fibers, Myopathy, Abnormal mitochondria in mu...	ORPHA:550
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Stiff neck, Pustule, Arrhythmia, Sinusitis, Cerebral...	ORPHA:68
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Osteopenia, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthrit...	ORPHA:227982
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Chronic axonal neuropathy, Peripheral hypomyelination	OMIM:612780
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Microcephaly, Abnormal palmar dermatoglyphics, Microphthalmia	ORPHA:2728
Watson Syndrome	Low-set ears, Pectus carinatum, Posteriorly rotated ears, Pulmonic stenosis	OMIM:193520
Steinert Myotonic Dystrophy	Respiratory insufficiency, Facial diplegia, Talipes equinovarus, Respiratory insufficiency due to...	ORPHA:273
Cystinosis, Nephropathic	Rachitic rosary, Rickets, Skeletal muscle atrophy, Exocrine pancreatic insufficiency, Genu valgum...	OMIM:219800
Ectodermal Dysplasia-Blindness Syndrome	Abnormal facial shape, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Short nose, Joint hypermobility	ORPHA:293948
Malignant Atrophic Papulosis	Respiratory failure	ORPHA:679
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Short nose	ORPHA:96147
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Short neck, Short nose	ORPHA:2282
Rodrigues Blindness	Abnormal facial shape, Microphthalmia	OMIM:268320
Bohring-Opitz Syndrome	Delayed peripheral myelination	OMIM:605039
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:618278
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Absent internal auditory canal, Narrow palate, Hypoplasia of the cochlea, Profound sensorineural ...	OMIM:620469
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ...	OMIM:600791
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Solitary Median Maxillary Central Incisor	Microcephaly, Anophthalmia, Microphthalmia	OMIM:147250
Microcephaly 20, Primary, Autosomal Recessive	Microcephaly, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Aspartylglucosaminuria	Platyspondyly, Depressed nasal bridge, Spondylolysis, Pathologic fracture, Anteverted nares, Spon...	OMIM:208400
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Frontofacionasal Dysplasia	Cranium bifidum occultum, Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defe...	OMIM:229400
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating hepatic transaminase concentration, Ventricular bigeminy, Abnormality of the...	OMIM:610131
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Delayed cranial suture closure, Tibial torsion, Overlapping toe, 2-3 toe syndactyly, Scoliosis, H...	OMIM:618653
Lipe-Related Familial Partial Lipodystrophy	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:435660
Familial Cerebral Cavernous Malformation	Venous malformation, Scoliosis, Cerebral hemorrhage	ORPHA:221061
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Papillorenal Syndrome	Microphthalmia, Scoliosis, Joint hypermobility	OMIM:120330
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension	OMIM:223900
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Choanal atresia, Platyspondyly, Abnormality of the vertebral colum...	ORPHA:2273
Complement Factor I Deficiency	Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis...	OMIM:610984
Dystonia 7, Torsion	Torticollis, Skeletal muscle hypertrophy	OMIM:602124
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H...	ORPHA:31824
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Kapur-Toriello Syndrome	Failure to thrive, Microphthalmia	ORPHA:2328
Mitochondrial Complex I Deficiency, Nuclear Type 32	Patent urachus, Respiratory failure, Death in childhood	OMIM:618252
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Microcephaly, Ataxia	OMIM:610651
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Hypomagnesemia 3, Renal	Rickets, Genu valgum, Hypomature enamel, Amelogenesis imperfecta, Enamel hypoplasia, Hypertension...	OMIM:248250
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,...	ORPHA:99845
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Hearing impairment, Sensorineural hearing impairment, Bilateral sensorineural hearing im...	OMIM:268315
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Single transverse palmar crease, Microphthalmia	OMIM:619053
Dysbetalipoproteinemia	Acute pancreatitis, Tendon xanthomatosis, Gout, Obesity	ORPHA:412
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Facial paralysis, Retinal arteriolar tortuosity, Ischemic strok...	OMIM:175780
Renal Nutcracker Syndrome	Dilatation of mesenteric artery, Renal artery stenosis, Vulval varicose vein, Syncope, Orthostati...	ORPHA:71273
Microphthalmia, Syndromic 5	Microphthalmia, Optic nerve hypoplasia, Anophthalmia, Joint hypermobility	OMIM:610125
Autosomal Dominant Keratitis	Keratitis, Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypop...	ORPHA:2334
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Peroxisome Biogenesis Disorder 13A (Zellweger)	Micrognathia, Delayed closure of the anterior fontanelle, Triangular face	OMIM:614887
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Autosomal Recessive Polycystic Kidney Disease	Depressed nasal ridge, Micrognathia, Respiratory failure	ORPHA:731
Systemic Lupus Erythematosus	Discoid lupus rash, Leukopenia, Malar rash, Weight loss, Lupus nephritis, Arthritis, Thrombocytop...	ORPHA:536
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Uveitis, Lymphopenia, Abnormal lymphocyte morphology, Leuk...	ORPHA:99826
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Pontine Tegmental Cap Dysplasia	Sensorineural hearing impairment, Rib fusion, Ankle clonus, Hemivertebrae, Facial palsy, Scoliosis	OMIM:614688
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Short ribs, Missing ribs, R...	OMIM:271520
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Hypoplasia of the maxilla, Underdeveloped nasal alae, Taurodontia, Rhinit...	OMIM:305100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers	OMIM:256810
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Rickets, Osteomalacia, Elevated circulating aspartate aminotransferase ...	OMIM:227810
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Arrhythmia, Myopathy	OMIM:535000
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner...	ORPHA:705
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ptosis, Failure to thrive, Ragged-red muscle fibers, Rhabdomyolysis	OMIM:124000
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Pulmon...	ORPHA:94093
Oculoauricular Syndrome	Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta, Short mand...	OMIM:612109
Leptospirosis	Hypotension, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Rhabdomyolysis, Elevat...	ORPHA:509
Alpha-2-Plasmin Inhibitor Deficiency	Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility	OMIM:262850
Distal Renal Tubular Acidosis	Rickets, Osteomalacia, Increased susceptibility to fractures, Sensorineural hearing impairment, E...	ORPHA:18
Nocardiosis	Osteomyelitis, Respiratory failure	ORPHA:31204
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Rickets	OMIM:616026
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Renal, Genital, And Middle Ear Anomalies	Abnormality of the middle ear ossicles, Hearing impairment	OMIM:267400
Woodhouse-Sakati Syndrome	Osteopenia, Triangular face, Choreoathetosis	ORPHA:3464
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Erysipelas, Anophthalmia, Microcephaly, Microphthalmia, Leukemia, Panniculitis	ORPHA:2526
Pierson Syndrome	Skeletal muscle atrophy, Hypoplasia of the iris, Rieger anomaly, Microcephaly, Hypoplasia of the ...	OMIM:609049
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy, Short nose	OMIM:614863
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis	ORPHA:761
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Brain abscess, Leukocytosis, Pancreatitis, Thrombocytopenia, Myocarditis, Septic arthr...	ORPHA:544482
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Myelopathy, Congestive...	ORPHA:3385
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Wide nasal bridge, Microcolon, Underdeveloped nasal alae, Prominent nasal bridge, Ileus, Splenome...	ORPHA:163746
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Tuberous Sclerosis Complex	Respiratory failure, Noncommunicating hydrocephalus	ORPHA:805
Sarcoidosis	Hepatic failure, Chylothorax, Decreased liver function, Parotitis, Portal hypertension, Joint swe...	ORPHA:797
Lipodystrophy, Familial Partial, Type 7	Small for gestational age, Failure to thrive, Lower limb muscle weakness, Gait ataxia, Dysmetria,...	OMIM:606721
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Aganglionic megacolon, Arrhythmia	ORPHA:2151
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Norrie Disease	Abnormal helix morphology, Narrow nasal bridge, Malar flattening, Venous insufficiency, Sensorine...	ORPHA:649
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Chronic Graft Versus Host Disease	Urinary bladder inflammation, Fasciitis, Pancytopenia, Keratoconjunctivitis sicca, Weight loss, A...	ORPHA:99921
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Triangular face	ORPHA:85327
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Anemia, Gout	OMIM:174000
Behcet Syndrome	Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis	OMIM:109650
Niemann-Pick Disease Type C	Respiratory failure, Respiratory insufficiency	ORPHA:646
Lipodystrophy, Familial Partial, Type 2	Increased intramuscular fat, Round face, Acute pancreatitis, Skeletal muscle hypertrophy	OMIM:151660
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Triangular face, Ataxia	OMIM:615510
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Microphthalmia	OMIM:300952
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Rachitic rosary	OMIM:612089
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Botulism	Arrhythmia, Xerostomia	ORPHA:1267
Autosomal Dominant Hypocalcemia	Hypotension, Eczematoid dermatitis, Congestive heart failure, Arrhythmia, Reduced bone mineral de...	ORPHA:428
Foodborne Botulism	Arrhythmia, Xerostomia	ORPHA:228371
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Chondrocalcinosis, Pancreatitis, Osteomalacia	OMIM:600740
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Colitis, Steatorrhea, Osteoporosis, Edema	ORPHA:309031
Glycogen Storage Disease Ic	Inflammation of the large intestine, Cyclic neutropenia, Gout, Chronic pancreatitis, Stomatitis	OMIM:232240
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcephaly, Microphthalmia	OMIM:110100
Oculopalatocerebral Syndrome	Microcephaly, Microphthalmia	OMIM:257910
Histiocytoid Cardiomyopathy	Congenital aphakia, Failure to thrive, Microphthalmia	ORPHA:137675
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Phthisis bulbi, Buphthalmos, Uveitis	OMIM:221900
Carney Triad	Gastrointestinal hemorrhage, Ascites, Arrhythmia, Leiomyosarcoma, Gastrointestinal stroma tumor, ...	ORPHA:139411
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Muscular dystrophy, Micrognathia, Hypoplasia of the retina, Microcephaly, Microphthalmia, Buphtha...	OMIM:253280
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Arthritis, Joint hypermobility	ORPHA:93111
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Infantile Nephropathic Cystinosis	Rickets, Dehydration	ORPHA:411629
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Proboscis Lateralis	Macrocephaly, Anophthalmia, Aplasia/Hypoplasia of the maxilla, Microphthalmia, Optic nerve hypopl...	ORPHA:141099
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Bartter Syndrome Type 4	Severe failure to thrive, Triangular face, Small for gestational age, Failure to thrive	ORPHA:89938
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Increased susceptibility to fractures, Dehydration, Osteomalacia	ORPHA:3337
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Microphthalmia	OMIM:603457
Holoprosencephaly 2	Microcephaly, Absent nasal septal cartilage, Scoliosis, Microphthalmia	OMIM:157170
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Chondrocalcinosis, Pancreatitis, Osteomalacia	ORPHA:405
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Penile Agenesis	Bilateral talipes equinovarus, Depressed nasal bridge, Short nose	ORPHA:49
Woodhouse-Sakati Syndrome	Triangular face, Choreoathetosis	OMIM:241080
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Holoprosencephaly 1	Microcephaly, Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Micrognathia, Bilateral microphthalmos	OMIM:154500

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hspg2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hspg2.

No publications found that use IMPC mice or data for Hspg2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hspg2^{tm48648(L1L2_gt0_Del_LacZ)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hspg2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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