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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 (3338 diseases)

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

Disease	Matching phenotypes	Source
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the...	OMIM:255800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Microcephaly, Micrognathia, F...	ORPHA:1865
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Increase...	ORPHA:800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Microcephaly, Short long bone, Talipes equino...	OMIM:224410
1P36 Deletion Syndrome	Abnormality of the spleen, Depressed nasal ridge, Abnormality of the liver, Clinodactyly of the 5...	ORPHA:1606

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

Disease	Matching phenotypes	Source
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Multiple Epiphyseal Dysplasia Type 1	Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis...	ORPHA:93308
Epiphyseal Dysplasia, Multiple, 1	Waddling gait, Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint ...	OMIM:132400
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Waddling gait, Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patel...	ORPHA:166002
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Short palm, ...	ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar hyperlordosis, Short femoral neck, Hump-s...	ORPHA:99642
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ...	ORPHA:2593
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Delayed epiphyseal ossification, Limited elbow extension,...	OMIM:600969
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Metaphyseal widening, Osteoarthritis, Coxa vara, Sclerotic verte...	OMIM:208230
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog...	ORPHA:2619
Bent Bone Dysplasia Syndrome 2	Osteopenia, Relative macrocephaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femo...	OMIM:620076
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Epiphyseal Dysplasia, Multiple, 2	Waddling gait, Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Knee osteoarthritis, Flatt...	OMIM:600204
Osteochondrosis Of The Tarsal Bone	Antalgic gait, Pedal edema, Tarsal sclerosis, Arthritis, Tarsal stippling, Chondritis, Abnormal t...	ORPHA:563991
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Waddling gait, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing...	OMIM:608728
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Spondyloepimetaphyseal Dysplasia, Irapa Type	Waddling gait, Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis,...	OMIM:271650
Familial Avascular Necrosis Of Femoral Head	Lower limb asymmetry, Limited hip movement, Abnormal femoral neck/head morphology, Hip osteoarthr...	ORPHA:86820
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr...	OMIM:602111
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Centrally nucleated skeletal m...	OMIM:619733
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, General...	ORPHA:85198
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip disl...	OMIM:616507
Thoracomelic Dysplasia	Round face, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hype...	ORPHA:1803
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscoliosis, Microcephaly,...	OMIM:215100
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Grant Syndrome	Large face, Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal rib morphology, J...	ORPHA:2097
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Albers-Schönberg Osteopetrosis	Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Facial pals...	ORPHA:53
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Waddling gait, Enlarged joints, Lumbar hyperlordosis, Bowing of the legs, Limb undergrowth, Limit...	ORPHA:156728
Richieri Costa-Da Silva Syndrome	Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Metatarsus adductus, I...	ORPHA:3101
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, High palate, Conductive hearing impairment, Clinodactyly of the 5th ...	OMIM:617877
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Ptosis, Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: m...	OMIM:608423
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Joint stiffness, Missing ribs, Microg...	ORPHA:1801
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic...	ORPHA:1240
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a...	ORPHA:93323
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li...	ORPHA:93311
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Re...	OMIM:609465
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Equinovarus def...	ORPHA:319195
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Radia...	OMIM:614078
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Micrognathia, Reduced bone mineral density, Increased head circumference,...	ORPHA:94068
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat...	OMIM:620269
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract...	ORPHA:83468
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Abnormal peripheral nervous system synaptic transmission, Facial palsy, General...	ORPHA:353327
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Microcephaly, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis ...	ORPHA:177
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat...	OMIM:117000
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the...	OMIM:255800
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Limited wrist...	ORPHA:602
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Coarse facial features, Restricted large joint movement, Micrognat...	ORPHA:93346
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middle phalanx of finger, Abnorm...	ORPHA:63442
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Flat ac...	OMIM:151210
Dysplasia Epiphysealis Hemimelica	Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff...	ORPHA:1822
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn...	ORPHA:1427
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga	OMIM:615612
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607734
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly	OMIM:618618
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in...	OMIM:256050
Desbuquois Dysplasia 2	Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short phalanx of finger,...	OMIM:615777
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Myasthenic Syndrome, Congenital, 13	Fatigable weakness, Muscle fiber tubular inclusions, Ptosis	OMIM:614750
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Waddling gait, Lumbar hyperlordosis, Broad hallux, Short thumb, Premature osteoarthritis, Hip ost...	OMIM:165800
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Cardiomegaly, Short neck, Delayed epiphyseal ossification, Deep philtrum, Tachypnea, ...	OMIM:613320
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Epicanthus, Elbow contracture, Cent...	OMIM:620310
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral fusion, Short...	OMIM:272460
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General...	OMIM:166600
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the han...	ORPHA:1842
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Club...	ORPHA:1525
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Ptosis, Facial palsy, Flexion contracture, Knee flexion contracture, Fat...	OMIM:616313
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly	ORPHA:2762
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Dysostosis Multiplex, Ain-Naz Type	Coarse facial features, Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular...	OMIM:619345
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Anteverted nares, Thor...	OMIM:313420
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Keratitis, Abnormal foot mo...	ORPHA:1657
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Platyspondyly	OMIM:184840
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal vertebral mor...	ORPHA:93352
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Small for gestational age, Wor...	OMIM:616897
Spondylometaphyseal Dysplasia, Corner Fracture Type	Waddling gait, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex...	OMIM:184255
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased...	OMIM:214400
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Abnormal pelvis bone morphology, Obesity, Palmoplantar keratoderma	ORPHA:2206
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Genu valgum, Joint hyperflexibility, Irregular vertebral endp...	ORPHA:250984
Rhizomelic Dysplasia, Patterson-Lowry Type	Large face, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, D...	ORPHA:2831
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Triangular face, Arac...	OMIM:614856
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Round face, Coxa valga, Genu valgum, Short phalanx of finger, Flat face, Br...	OMIM:132450
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst...	OMIM:600561
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi...	ORPHA:2741
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am...	OMIM:158600
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Peripheral Dysostosis	Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly...	ORPHA:1795
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta...	ORPHA:1927
Achondrogenesis Type 1A	Short palm, Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossifica...	ORPHA:93299
X-Linked Centronuclear Myopathy	Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of...	ORPHA:596
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla...	OMIM:615349
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Achondrogenesis Type 1B	Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormal rib morphology, Short foot, ...	ORPHA:93298
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Gm1-Gangliosidosis, Type Ii	Coarse facial features, Ataxia, Joint stiffness, Coxa valga, Splenomegaly, Thoracolumbar kyphosis...	OMIM:230600
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Type 2 muscle fiber atrophy, Generalized hypotonia due to defect at the neuromuscular junction, M...	OMIM:605809
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118210
Myasthenic Syndrome, Congenital, 6, Presynaptic	Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Arthrogryp...	OMIM:254210
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Limb muscle weakness, Prolonged miniature endplate currents, Fatigable wea...	OMIM:603034
Gombo Syndrome	Microcephaly, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Congenital Myopathy 4A, Autosomal Dominant	Congenital hip dislocation, Limb joint contracture, Facial palsy, Centrally nucleated skeletal mu...	OMIM:255310
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Round face, Micromelia, Micrognathia, Equinovarus def...	OMIM:224400
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Flat face, Br...	OMIM:619479
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a...	OMIM:601098
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Wo...	ORPHA:1798
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Rocker bottom foot, Short neck, Paucity of anterior horn ...	OMIM:611890
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Osteoarthritis Susceptibility 3	Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j...	OMIM:607850
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Limited knee flexion...	ORPHA:266
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone oss...	ORPHA:93315
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Small for gestational...	OMIM:616229
Oculopharyngodistal Myopathy 2	Ptosis, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Wea...	OMIM:618940
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme...	ORPHA:206594
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Knee flex...	OMIM:602484
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118200
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Lumbar hy...	OMIM:167320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:180800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intrinsic hand muscle atrophy, Prolonged miniature endplate currents, Upper ...	OMIM:601462
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology, Peripheral demyelination, Leukodystrophy	DECIPHER:59
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Proximal placement of thumb, Flexion contracture, Coxa vara, Hypoplastic ilia...	OMIM:613330
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Micrognathia, Short neck, Dyspnea, Large fontanelles, Dep...	ORPHA:1832
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance, Ptosis	OMIM:616304
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Chronic Inflammatory Demyelinating Polyneuropathy	Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond...	ORPHA:2932
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	EEG abnormality, Axonal loss, Gliosis, Abnormal upper motor neuron morphology, Peripheral demyeli...	OMIM:221770
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ...	ORPHA:140
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Fl...	OMIM:215150
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno...	OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre...	OMIM:608673
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili...	ORPHA:2655
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnormal fibula morphology, Coxa ...	ORPHA:1988
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Flat face	OMIM:600972
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of periphera...	ORPHA:280234
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Wide anterior fontanel, Flat face	OMIM:614859
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Flat capital femoral epiphysis, Genu valgum, Irregular capital femoral epip...	OMIM:614134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,...	ORPHA:85435
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage, Macrocephaly, Abn...	ORPHA:2867
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Small hypothenar eminence, Coarse facial features, Arachnodactyly,...	ORPHA:2463
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Hypoplasia o...	OMIM:183900
Stickler Syndrome Type 1	Osteoarthritis, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis morphology, Abnormal ve...	ORPHA:90653
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118220
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ...	ORPHA:2370
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:602771
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Intellectual Developmental Disorder, Autosomal Dominant 59	Short palm, Facial hypotonia, Short foot, Macrocephaly, Flat face, Brachydactyly	OMIM:618522
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver...	OMIM:301014
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Skeletal muscle atrophy, Broad-based ga...	OMIM:616716
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre...	OMIM:618484
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Ptosis, Facial palsy, Centrally nucleated skeletal muscle fibers, Increa...	OMIM:255320
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Enlarged ...	ORPHA:251071
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Facial palsy, Micrognathia, Hyperlordosis, Facial hyperostosis, H...	ORPHA:2780
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl...	ORPHA:206549
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye...	OMIM:162500
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Facial palsy, Type 2 muscle fiber atrophy, Weakness of facial musculature, Limb muscle weakness, ...	OMIM:608930
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:241530
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Osteoporosis, Camptodactyly, Abnormal facial shape, Flat face	OMIM:616006
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Al-Raqad Syndrome	Joint laxity, Sandal gap, Microcephaly, Inability to walk, Gait ataxia, Flat face, Brachydactyly	OMIM:616459
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Pes planus, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Sw...	OMIM:190350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur...	OMIM:610967
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microcephaly, Limi...	ORPHA:2994
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy...	ORPHA:86812
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Macrocephaly, Metaphysea...	OMIM:300863
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Craniosynostosis, Pectus excavatum, Coarctation of aor...	ORPHA:261243
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Lumbar hyperlordosis, Hypoplastic iliac wing, Kyphosis, Limitation of joint mobility, Coxa vara, ...	OMIM:313400
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:145900
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide nose, Prominent nose, Broad nasal tip, Bulbous nose, Cupped ear, W...	OMIM:617982
Myasthenic Syndrome, Congenital, 12	Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Fatigable weakness, Ptosis	OMIM:610542
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Coarse facial features, Splenomegaly, Kyphos...	ORPHA:61
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit...	OMIM:609324
Fetal Trimethadione Syndrome	Ventricular septal defect, Depressed nasal bridge, Micrognathia, High palate, Transposition of th...	ORPHA:1913
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Peroxisome Biogenesis Disorder 7A (Zellweger)	Epiphyseal stippling, Flat face, Wide anterior fontanel, Talipes equinovarus	OMIM:614872
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl...	OMIM:130070
Pde4D Haploinsufficiency Syndrome	Micrognathia, Short metatarsal, Irregular vertebral endplates, Bilateral coxa valga, Short phalan...	ORPHA:439822
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Microcephaly, Micrognathia, F...	ORPHA:1865
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Triangular face, Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Tho...	OMIM:619638
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Waddling gait, Metaphyseal widening, Microphthalmi...	ORPHA:2788
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Scoliosis, Brachydactyly	ORPHA:1937
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Abnormally large globe, Multiple joint...	OMIM:245600
Mitochondrial Myopathy With Diabetes	Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or...	OMIM:500002
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Micrognathia, Knee dislocation, Irregular vertebral endplates, Microretrognathia, Hyperlordosis, ...	OMIM:618363
Weiss-Kruszka Syndrome	Prominent metopic ridge, Exaggerated cupid's bow, Bicuspid aortic valve, Proximal placement of th...	OMIM:618619
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Abnormal form of the vertebral bodies, Joint hyperf...	ORPHA:1458
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint mobility, Os...	ORPHA:2774
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen...	OMIM:606483
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossific...	OMIM:618392
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Neonatal respiratory distress, Anteverted nares, Depressed ...	OMIM:618961
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn...	OMIM:166300
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Depr...	ORPHA:166272
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Abnormal rib mor...	ORPHA:93267
Odontochondrodysplasia 1	Narrow face, Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu var...	OMIM:184260
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased number of pe...	OMIM:607706
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Optic atrophy, Increased variability in muscle fiber ...	ORPHA:401768
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri...	OMIM:611228
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Abnormality of the pa...	ORPHA:1926
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:264700
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Ptosis, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased bo...	OMIM:300580
Rhizomelic Syndrome, Urbach Type	Micrognathia, Short neck, Abnormal form of the vertebral bodies, High palate, Triphalangeal thumb...	ORPHA:3098
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Abnormal heart morph...	ORPHA:294975
Benign Samaritan Congenital Myopathy	Epicanthus, Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Bilateral ptosis, Downslanted palpebral fissures, Typ...	OMIM:619542
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis, Micrognathia, Abnormal metacarpal morphology	ORPHA:166100
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Microcephaly, Talipes equinovarus, Microphthalmia, Arthrogrypos...	OMIM:616570
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Mucopolysaccharidosis Type 7	Coarse facial features, Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus...	ORPHA:584
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Long face, Scapular winging, Toe syndactyly, Narrow face, Camptodactyly of finger,...	ORPHA:1327
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Macroc...	ORPHA:93274
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra...	ORPHA:157965
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contracture, Atopic dermatitis,...	OMIM:619719
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Abnormal facial shape, Short phalanx of finger, Hypo...	ORPHA:56304
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Arachnodactyly, Decreased fibular diameter, Microcephaly, Long fingers, Red...	OMIM:619489
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Abnormal sacroiliac joint morphology, Cr...	ORPHA:324964
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Skeletal muscle atrophy, Tapered finger, Hyperlordosis, Osteolysis, Foot...	ORPHA:970
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Pes planus, Thoracic scoliosis, Micrognathia, Osteoarthritis, Squared ...	OMIM:618000
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:277440
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au...	OMIM:601596
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Short neck, Prominent nose, Downturned corner...	OMIM:601808
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Kyphoscoliosis, Hemivertebrae, Erythroderma, Punctate vertebra...	OMIM:302960
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Increase...	ORPHA:800
Laron Syndrome	Micrognathia, Short toe, Osteoarthritis, Abnormality of the elbow, Truncal obesity, Abnormal faci...	ORPHA:633
Larsen Syndrome	Finger syndactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bones, Joint hype...	ORPHA:503
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Hemi...	ORPHA:536471
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wri...	ORPHA:2848
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Flat face, Hypoplastic ischia, Microcephaly	OMIM:616910
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Micrognathia, O...	OMIM:613849
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Fatigable weakness, Myopathy, Type...	ORPHA:424107
Craniofacial-Deafness-Hand Syndrome	Narrow face, Ulnar deviation of the wrist, Camptodactyly of finger, Ulnar deviation of finger, Ab...	ORPHA:1529
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609311
Wild Type Abeta2M Amyloidosis	Arthropathy, Abnormality of the vertebral endplates, Bone cyst, Abnormal shoulder morphology, Art...	ORPHA:85446
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Flat face, Brachydac...	ORPHA:921
Oculopharyngeal Muscular Dystrophy	Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Ptosis	ORPHA:270
Arthrogryposis, Distal, Type 2B2	Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Mucolipidosis Type Iii	Craniofacial hyperostosis, Coarse facial features, Acne, Joint stiffness, Hyperlordosis, Abnormal...	ORPHA:577
Genitopalatocardiac Syndrome	Ventricular septal defect, Micrognathia, Cleft upper lip, Cleft palate, Right aortic arch, Transp...	OMIM:231060
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch...	ORPHA:860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Achondrogenesis	Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of bone mineral density, ...	ORPHA:932
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Neonatal r...	ORPHA:244
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Fibular hypoplasia, Aplasia/Hypo...	OMIM:612447
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metatarsal morphology, Flexion contracture, Knee osteoarthritis, Uveitis, Enthesitis, Ab...	ORPHA:85408
Osteogenesis Imperfecta, Type Xxi	Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platysp...	OMIM:619131
Monosomy 18Q	Mandibular prognathia, Prominent nose, Secundum atrial septal defect, Downturned corners of mouth...	ORPHA:1600
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Intrinsic hand muscle atrophy, Knee dislocation, Type 1 muscle fiber predominance, ...	ORPHA:178145
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2...	OMIM:612394
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ...	ORPHA:486815
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Joint stiffness, Hyperl...	ORPHA:40
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Micrognathia, Wide anterior f...	ORPHA:163649
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr...	ORPHA:666
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Broad ribs, Iliac crest serration, Rhizomelia, Hypoplasia of...	ORPHA:239
Temtamy Syndrome	Long face, Pes planus, Coarse facial features, Facial asymmetry, Micrognathia, Short toe, Genu va...	ORPHA:1777
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Vulto-Van Silfhout-De Vries Syndrome	Joint laxity, 2-3 toe cutaneous syndactyly, Gait disturbance, Prominent fingertip pads, Flat face	OMIM:615828
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ...	OMIM:300717
Maxillonasal Dysplasia	Aplasia/Hypoplasia of the distal phalanges of the toes, Vertebral clefting, Scoliosis, Patchy dis...	ORPHA:1248
Childhood-Onset Nemaline Myopathy	Scapular winging, Fatigable weakness of bulbar muscles, Flexion contracture, Increased muscle lip...	ORPHA:171439
Larsen-Like Syndrome	Joint laxity, Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Recurrent otitis media, ...	OMIM:608545
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:605588
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Congenital hip dislocation, Multiple joint contractures, Polyhydramnios,...	OMIM:618291
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Congenital diaphragmatic hernia, Microcephaly, Hemivertebrae, Flat face, Scoliosi...	ORPHA:370079
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Cleft palate, Anterior...	ORPHA:1727
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Peripheral demyelination	ORPHA:99944
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy, Ptosis	OMIM:609283
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Lateral humeral condyle ...	OMIM:164900
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond...	OMIM:620068
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow...	ORPHA:1423
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Catel-Manzke Syndrome	Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Camptodactyly...	ORPHA:1388
Lateral Meningocele Syndrome	Decreased muscle mass, Dental crowding, Bicuspid aortic valve, Micrognathia, Short neck, High pal...	OMIM:130720
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Wiedemann-Steiner Syndrome	Joint laxity, Pes planus, Broad-based gait, Tapered finger, Microcephaly, Contracture of the dist...	OMIM:605130
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Decreased compound muscle action potential amplitude, Onion bulb formation, Peripheral demyelination	OMIM:618279
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Short neck, Bulbous nose, Wide mouth, Macroglossia, Everted lower lip ver...	OMIM:616789
Bethlem Myopathy 2	Scapular winging, Flexion contracture, Hip dislocation, Myopathy, Increased variability in muscle...	OMIM:616471
Arthrogryposis, Distal, Type 2A	Joint dislocation, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Uln...	OMIM:193700
2Q24 Microdeletion Syndrome	Toe syndactyly, Small for gestational age, Camptodactyly of finger, Long fingers, Bullet-shaped d...	ORPHA:1617
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Aqueduc...	OMIM:306955
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609260
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Wide nose, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Lon...	OMIM:619995
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl...	ORPHA:370968
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Coxa valga, Joint stiffness, Trismus, Hypoplastic ilia, Vertebral wed...	OMIM:616583
Kniest Dysplasia	Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti...	OMIM:156550
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory...	ORPHA:99953
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Joint dislocation, Thoracic scoliosis, Decreased muscle mass, High, narrow palate, Ge...	ORPHA:1900
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Elbow flexion...	ORPHA:75840
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle...	ORPHA:1952
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Brachydactyly, Single transverse palmar crease, Micrognathia, Camptodactyly, Recurrent otitis med...	OMIM:613604
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Microcephaly, Short long bone, Talipes equino...	OMIM:224410
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ...	OMIM:617258
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Coxa vara, Halberd-shaped pelvis, Narrow gr...	OMIM:184252
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Joint stiffness, Micrognathia, Kyphosis, Irregular femoral epiphysis...	OMIM:108300
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Polyhydramnios, Pectus carinatum, Vertebr...	OMIM:312870
Legg-Calvé-Perthes Disease	Cartilage destruction, Joint dislocation	ORPHA:2380
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Micrognathia, Kyphosis, Osteoporosis, Dysm...	ORPHA:48431
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Pectus excavatum, Secundum atrial septal defect, Pectus carinatum, Aortic root an...	OMIM:619910
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:311070
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet...	OMIM:606070
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Butterfly vertebrae, Short femur, Sandal gap, Small for gestational age, Rhizomeli...	OMIM:607143
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Facial asymmetry, Hyperlordosis, Symphalangism affecting the ph...	ORPHA:710
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal mitr...	ORPHA:1277
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Abnorma...	ORPHA:949
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Decreased nerve cond...	ORPHA:969
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal loss, Clusters of axo...	ORPHA:101097
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irreg...	OMIM:609223
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Short...	ORPHA:264450
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con...	OMIM:208250
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop...	OMIM:255160
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Abse...	ORPHA:79113
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:604563
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Sternocleidomastoid amyotrophy, Facial asymmetry, Small hand, Abnormal rib morphology...	ORPHA:488434
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate r...	OMIM:618188
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General...	ORPHA:2790
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Degeneration of anterior horn cells, Axonal degeneration, Gliosis, Decreased number of peripheral...	OMIM:604484
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Eczema, Microcephaly, Obesity, Patellar hypoplasia, Abnormal facial shap...	ORPHA:464288
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse...	ORPHA:289157
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I...	ORPHA:276435
Oculopharyngodistal Myopathy 3	Ptosis, Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diamet...	OMIM:619473
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge...	ORPHA:169189
Recombinant Chromosome 8 Syndrome	Micrognathia, Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, ...	OMIM:179613
Distal Arthrogryposis Type 1	Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Talipes, Ulnar deviation of finger,...	ORPHA:1146
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Cortical thickening of long bone diaphyses, Otitis media, Hypoplastic...	ORPHA:309282
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Orofaciodigital Syndrome Xv	Postaxial hand polydactyly, Broad hallux, Flat face, Duplication of phalanx of hallux	OMIM:617127
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Onion bulb formation, Peripheral demyelination, Axonal regeneration	OMIM:615185
Craniometaphyseal Dysplasia, Autosomal Dominant	Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pelvic gird...	OMIM:123000
Achondroplasia	Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Anteverted nares, Depressed nasal ...	OMIM:616809
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, High, narrow palate, Anteriorly placed anus, Right ventricular dilatation, ...	OMIM:612863
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, CNS demyelination, Peripheral demyelination	OMIM:249900
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Brachyolmia Type 1, Toledo Type	Broad tibial metaphyses, Kyphoscoliosis, Precocious costochondral ossification, Irregular vertebr...	OMIM:271630
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath...	OMIM:248800
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Flat face, Pansynostosis, Duplication of the dista...	OMIM:180750
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Optic nerve hypoplasia, Microcephaly, Micrognathia, Flexio...	OMIM:222765
Chime Syndrome	Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplas...	ORPHA:3474
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Anterior uveitis, Thickened Ach...	ORPHA:85438
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent r...	OMIM:314390
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Decreased muscle mass, Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies,...	ORPHA:73230
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velo...	OMIM:614399
Hyperekplexia 4	Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Talipes equinova...	OMIM:618011
Dandy-Walker Malformation With Postaxial Polydactyly	Microretrognathia, Depressed nasal bridge, Postaxial hand polydactyly, Patent ductus arteriosus, ...	OMIM:220220
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Shox-Related Short Stature	Micrognathia, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Skeletal muscl...	ORPHA:314795
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Decreased miniature endplate potentials, Prolonged miniature endplate currents, Ptosis	OMIM:616321
Acromicric Dysplasia	Short metacarpal, Round face, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short lo...	OMIM:102370
Arthrogryposis, Distal, Type 2B3	Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Scoliosis, Camptodactyly, Overla...	OMIM:618436
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300554
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Decreased motor nerve co...	OMIM:618184
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Coxa valga, Hip dislocation, Absent extraocular muscles, Macrocephaly, Flat face	OMIM:109120
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Micromelia, Abnormal form of the vertebral bodies, Long ...	ORPHA:2635
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Prominent nose, Micromelia, Coxa vara, Hypoplastic iliac w...	ORPHA:2637
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Round face, Microcephaly, Talipes equinovarus, Camptodactyly, Cervical C2/C3 vertebral fusion, Fl...	OMIM:617333
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl...	OMIM:156510
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:605285
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculatu...	OMIM:617069
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o...	OMIM:252500
Hypophosphatasia, Infantile	Death in infancy, Apnea, Craniosynostosis, Bowing of the legs, Abnormality of the dentition, Poly...	OMIM:241500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short neck, Prominent nose, Protrudin...	OMIM:612474
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Warburg Micro Syndrome 1	Overlapping toe, Kyphoscoliosis, Microcephaly, Micrognathia, Osteoporosis, Microphthalmia, Failur...	OMIM:600118
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Pes planus, Tapered finger, Flexion contracture, Recurrent pneumonia, Hip dysplasia...	OMIM:619293
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Distal Monosomy 7Q36	Large face, Micrognathia, Microcephaly, Symphalangism affecting the phalanges of the hand, Clinod...	ORPHA:1636
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Bilateral ptosis, ...	OMIM:620351
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Clinodactyly of the 5th finger, Malar...	ORPHA:217340
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Abdominal aortic aneurysm, Bi...	ORPHA:284984
Tarp Syndrome	Micrognathia, Glossoptosis, High palate, Atrial septal defect, Neonatal death, Anteverted nares, ...	OMIM:311900
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Long face, Short metacarpal, Brachydactyly, Small for gestational age, Rhizomelia, Hy...	OMIM:614813
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor...	ORPHA:1354
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen...	ORPHA:2631
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Relative macrocephaly, Small for gestational age, Diastasis recti, Delayed closure of the anterio...	ORPHA:231140
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Tapered fi...	OMIM:616801
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micrognathia, Micro...	ORPHA:628
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Narrow nasal bridge, Irregularity of vertebral bodies, Convex nasal ridge, Hypoplasia of the odon...	ORPHA:85172
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Myelomeningocele, Hydrocep...	ORPHA:1914
Anauxetic Dysplasia 2	Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kypho...	OMIM:617396
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Rocker bottom foot, Camptodactyly of finger, Microcephaly, Microgna...	OMIM:610758
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Acrocephalopolydactyly	Genu recurvatum, Premature closure of fontanelles, Short neck, Depressed nasal ridge, Short long ...	ORPHA:221054
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Mic...	OMIM:214150
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Failure to thrive, Skeletal muscle autophagosome accumulation, Centrally nucleat...	OMIM:619518
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi...	OMIM:602471
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration	OMIM:607677
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ...	OMIM:609325
Krabbe Disease	Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, CNS demyelination, Periphera...	OMIM:245200
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Otitis media, Prominent metopic ridge, L...	ORPHA:576
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Arterial Tortuosity Syndrome	Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnoda...	ORPHA:3342
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat...	OMIM:256030
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo...	ORPHA:2789
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy...	ORPHA:2141
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers	OMIM:615959
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Pes planus, Waddling gait, Camptodactyly of finger, K...	OMIM:612350
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae,...	ORPHA:79345
Blepharocheilodontic Syndrome 2	Flat face, Facial asymmetry, Cutaneous syndactyly	OMIM:617681
Nail-Patella Syndrome	Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology,...	ORPHA:2614
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607731
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Typical Nemaline Myopathy	Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weakness of proximal limb mus...	ORPHA:171436
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Short neck, Lymphedema, Metaphyseal widening, Narrow chest, ...	OMIM:239850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Microcephaly, Hyperlordosis, Inability to walk, Flexion contracture, Hip dislocatio...	OMIM:613156
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose	OMIM:300577
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat...	OMIM:610915
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal femur morphology, Abnormal form of the vertebral bodies, Cough, Ecc...	ORPHA:464329
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Micrognathia, Wide anterior fontanel, Ulnar bowing...	OMIM:619135
Peroxisome Biogenesis Disorder 1A (Zellweger)	Round face, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Mic...	OMIM:214100
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci...	ORPHA:169186
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Micrognathia, Microphthalmia, Split hand, Hand clenching, ...	OMIM:157900
Holt-Oram Syndrome	Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block...	ORPHA:392
Hall-Riggs Syndrome	Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Prominent nose, Kyphosis, Osteop...	OMIM:234250
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Cerebral hemorrhage, Abnormal hand morphology, Moyamoya phenomenon, Dilated cardiomyop...	OMIM:300845
Three M Syndrome 3	Small for gestational age, Microcephaly, Hyperlordosis, Increased vertebral height, Slender long ...	OMIM:614205
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Micrognat...	ORPHA:536545
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect...	OMIM:249420
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusori...	OMIM:620294
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Micromelia, Finger joint hypermobility, Atrial septal defect, Patent foramen o...	OMIM:618870
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epi...	ORPHA:2484
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de...	OMIM:608340
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Conductive...	OMIM:280000
Chromosome 5Q12 Deletion Syndrome	Long toe, Coarse facial features, Micrognathia, Long fingers, Macroglossia, Flat face, Decreased ...	OMIM:615668
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Hepatomegaly, Prominent metop...	ORPHA:1597
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Atrial septal defect, Fused thorac...	ORPHA:97360
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Short metatarsal, Cone-shaped epiphysis, Arthritis, Abno...	OMIM:613328
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Advanced oss...	OMIM:269250
Pierpont Syndrome	Decreased body weight, Microcephaly, Short toe, Broad palm, Short foot, Deep plantar creases, Dee...	OMIM:602342
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ...	ORPHA:3268
Cardiomyopathy, Dilated, 1B	Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra...	OMIM:600884
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Proximal placement of thumb, Micrognathia, Promin...	ORPHA:435638
Kagami-Ogata Syndrome	Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defec...	OMIM:608149
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn...	ORPHA:91387
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalan...	OMIM:268310
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Micrognathia, Short neck, Short nose, Abnormal vertebral morphology	ORPHA:2015
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
9Q31.1Q31.3 Microdeletion Syndrome	Cervical kyphosis, Tapered finger, Overweight, Small hand, Short clavicles, Abnormal facial shape...	ORPHA:401923
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Flat face, Microcephaly	OMIM:300558
Merrf	Myopathy, Ragged-red muscle fibers, Optic atrophy	ORPHA:551
Oculopharyngodistal Myopathy 4	Ptosis, Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscl...	OMIM:619790
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Cachex...	ORPHA:77297
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ...	ORPHA:916
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe...	OMIM:613954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Distal Duplication 5Q	Hypoplasia of the ulna, Eczema, Craniosynostosis, Absent thumb, Microcephaly, Micrognathia, Hypop...	ORPHA:96097
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal de...	OMIM:610127
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Fanconi Anemia, Complementation Group G	Microcephaly, Abnormal thumb morphology, Thrombocytopenia, Neutropenia, Microphthalmia, Leukemia,...	OMIM:614082
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Takayasu Arteritis	Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial...	ORPHA:3287
Ruijs-Aalfs Syndrome	Pes planus, Skeletal muscle atrophy, Thoracic kyphoscoliosis, Down-sloping shoulders, Single tran...	OMIM:616200
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300718
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Patchy distorti...	OMIM:155050
Pierpont Syndrome	Joint laxity, Pes planus, Small for gestational age, Short toe, Abnormality of the plantar skin o...	ORPHA:487825
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Eczema, Short long bone, Scoliosis, Camptodactyly, Thrombocytopenia	OMIM:619751
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n...	OMIM:618138
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Wormian bo...	OMIM:166210
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers...	OMIM:160500
Pontocerebellar Hypoplasia, Type 1C	Joint contracture, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:600882
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, EEG with generalized slow activity	ORPHA:2386
Carpenter Syndrome 2	Short neck, High, narrow palate, Preaxial polydactyly, Coxa vara, Pectus carinatum, Protruding ea...	OMIM:614976
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Polyhydramnios, Micrognathia, Hypoplasia of th...	ORPHA:96334
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnorma...	ORPHA:175
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Recurrent fractures, Micrognathia, Limitation of joint mobility, Abnorma...	ORPHA:1486
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, Microcephaly, Vertebral clefting, Hemivertebrae, 2-3...	OMIM:614701
Zellweger Syndrome	Microcephaly, Micrognathia, Wide anterior fontanel, Epiphyseal stippling, Macrocephaly, Failure t...	ORPHA:912
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Multiple joint dislocation, Hip...	OMIM:618395
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Missing ribs, Hydroc...	OMIM:220210
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Neu-Laxova Syndrome 1	Polyhydramnios, Swollen lip, Micrognathia, Short neck, Micromelia, Calcaneovalgus deformity, Depr...	OMIM:256520
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones...	OMIM:215045
3C Syndrome	Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Abnormal tricuspid...	ORPHA:7
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Sc...	OMIM:112350
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr...	ORPHA:2041
Three M Syndrome 1	Joint dislocation, Pes planus, Scapular winging, Small for gestational age, Hyperlordosis, Increa...	OMIM:273750
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Hydrops fetalis, Abnormal form of the vertebral bod...	ORPHA:354
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Multiple joint contractures, Congenital diaphragmati...	ORPHA:96170
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Microcephaly, Micrognathia, Short middle phalanx of finger, Talipes eq...	OMIM:612626
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finge...	ORPHA:2787
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl...	ORPHA:2549
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Ptosis, Abnormality of the knee, Facial palsy, Limited...	ORPHA:98915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Spinal rigidity, Hydrocephalus, Dilated cardiomyopathy, F...	OMIM:253800
Contractural Arachnodactyly, Congenital	Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Pectus carinatum, Knee flexion contr...	OMIM:121050
Craniofaciofrontodigital Syndrome	Osteopenia, Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, C...	ORPHA:363705
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ...	OMIM:609029
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration, P...	OMIM:604168
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Short Stature-Micrognathia Syndrome	Joint laxity, Rhizomelia, Ataxia, Coxa valga, Bowing of the legs, Microcephaly, Metaphyseal widen...	OMIM:617164
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction...	OMIM:615368
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Ck Syndrome	Dental crowding, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Hyperlordosis, K...	OMIM:300831
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Anomalous origin of lef...	OMIM:618845
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300009
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m...	ORPHA:1328
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Anteverted nares, Hea...	ORPHA:2701
Down Syndrome	Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Obesity, Macroglossia, Gait...	ORPHA:870
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Waddling gait, Congenital hip dislocation, Left ventricular hypertrophy, Limited e...	OMIM:300280
Rhizomelic Syndrome	Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip dislocat...	OMIM:268250
Periventricular Nodular Heterotopia 1	Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f...	OMIM:300049
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Fatigable weakness, Arthrogryposis ...	OMIM:608931
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Tetrasomy 5P	Coarse facial features, Overlapping toe, Short hallux, Micrognathia, Long fingers, Wide anterior ...	ORPHA:3309
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Nicolaides-Baraitser Syndrome	Short palm, Joint dislocation, Sandal gap, Eczema, Microcephaly, Abnormal finger morphology, Club...	ORPHA:3051
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Pectus carinatum, Severe sensorineural hearing impair...	ORPHA:500
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien...	OMIM:245650
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr...	OMIM:143095
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop...	OMIM:611717
Slc39A8-Cdg	Osteopenia, Failure to thrive in infancy, Craniosynostosis, Inability to walk, Elbow flexion cont...	ORPHA:468699
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Skeletal muscle hype...	OMIM:255710
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Alagille Syndrome	Hypoplasia of the ulna, Round face, Coarse facial features, Micrognathia, Spina bifida occulta, A...	ORPHA:52
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Decreased muscle mass, Microcep...	OMIM:612940
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1...	ORPHA:171442
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality...	ORPHA:3035
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Pterygium, Craniosynostosis, Micromelia, Micrognat...	ORPHA:93329
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal...	ORPHA:93160
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Red...	ORPHA:740
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Anteverted nares, ...	ORPHA:582
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Distal Deletion 10Q	Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Hig...	ORPHA:96148
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Respiratory insufficiency, Re...	OMIM:276950
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventricular bl...	ORPHA:581
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Decreased compound muscle action potential amplitude, Flexion contracture, Shoulder...	OMIM:603511
Cutis Laxa, Autosomal Recessive, Type Iia	Pes planus, Congenital hip dislocation, Microcephaly, Wide anterior fontanel, Scoliosis, Failure ...	OMIM:219200
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac...	OMIM:271510
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:615376
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Anteverted nares, Short neck, Micrognat...	OMIM:264180
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Genu valgum, Slender long bones with na...	OMIM:608154
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Laron Syndrome	Limb undergrowth, Abnormal joint morphology, Short long bone, Small face	OMIM:262500
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis, Coxa vara, In...	OMIM:610968
Stickler Syndrome	Joint dislocation, Skeletal muscle atrophy, Micrognathia, Osteoarthritis, Uveitis, Reduced bone m...	ORPHA:828
Moderate Hemophilia A	Abnormal bleeding, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Arthropathy...	ORPHA:169805
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the...	ORPHA:289176
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Greenberg Dysplasia	Polyhydramnios, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures...	OMIM:215140
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb, Microcephaly	ORPHA:3434
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Axonal degeneration/regeneration	OMIM:607736
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Posteriorly rotated ears, Congenital diap...	ORPHA:1780
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal wi...	OMIM:612813
Pachydermoperiostosis	Coarse facial features, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of j...	ORPHA:2796
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Thin ribs, Decreased skull ossification, Slender long bone, Aniridia...	OMIM:602361
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Vertebral se...	ORPHA:1120
Melorheostosis	Skeletal muscle atrophy, Increased bone mineral density, Joint stiffness, Lower limb asymmetry, U...	ORPHA:2485
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Wide nose, Cerebral hemorrhage, Dilated cardiomyopathy, Flared nostrils, Hypertension, Ischemic s...	ORPHA:280679
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, P...	OMIM:614424
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Ptosis	OMIM:617070
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Polyhydramnios, Metaphyseal widening, ...	OMIM:263210
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Peripheral demyelination	OMIM:616684
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc...	OMIM:619065
Aneurysm Of Interventricular Septum	Vascular dilatation, Abnormal ventricular septum morphology	OMIM:105805
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnorm...	ORPHA:2710
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ...	ORPHA:2928
Cofs Syndrome	Prominent metopic ridge, Camptodactyly of finger, Talipes, Microcephaly, Micrognathia, Joint stif...	ORPHA:1466
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Microcephaly, Unsteady gait, Genu valgum, Macrocephaly, Joint hypermobility	OMIM:617798
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Bifid uvula, Sc...	OMIM:300958
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Lower limb asymmetry, Secondary microcephaly, Clinodactyly of the 5th ...	ORPHA:231147
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfecta, Decreased ...	OMIM:259440
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Chronic oti...	OMIM:101200
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Abnormal clavicle morphology, Facial palsy, Generalized osteosclerosis, Se...	ORPHA:3416
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Aspergillosis	Chronic lung disease, Osteomyelitis, Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obs...	ORPHA:1163
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Increased variability in muscle fiber diameter	ORPHA:238329
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Arachnodactyly, Choanal atresia, Missing ribs, Dyspnea, Hemivertebrae, Wide...	ORPHA:2759
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Barrel-shaped ches...	OMIM:607095
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakness, Achilles te...	OMIM:620389
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Muscular Dystrophy, Congenital, 1B	Achilles tendon contracture, Facial palsy, Respiratory failure, Spinal rigidity	OMIM:604801
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Large for gestational age, Micrognathia, Hemivertebrae, ...	OMIM:213980
Blepharocheilodontic Syndrome 1	Clinodactyly, Flat face, Cutaneous syndactyly	OMIM:119580
Xylt1-Cdg	Joint laxity, Relative macrocephaly, Pes planus, Joint dislocation, Acne, Coxa valga, Microcephal...	ORPHA:370930
Peroxisome Biogenesis Disorder 3B	Ataxia, Single transverse palmar crease, Osteoporosis, Abnormal facial shape, Failure to thrive, ...	OMIM:266510
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cuppin...	OMIM:300232
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Postaxial polydactyly, Micromelia, Micrognathia, ...	OMIM:617866
Silver-Russell Syndrome Due To 11P15 Microduplication	Relative macrocephaly, Small for gestational age, Clinodactyly of the 5th finger, Failure to thri...	ORPHA:231144
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Limb joint contracture, Micrognathia, Flexion contract...	OMIM:618186
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Kleefstra Syndrome 1	Coarse facial features, Single transverse palmar crease, Microcephaly, Obesity, Macroglossia, Tal...	OMIM:610253
Arthrogryposis Multiplex Congenita 6	Death in infancy, Large fontanelles, Respiratory failure, Death in childhood, Neonatal death, Art...	OMIM:619334
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Thoracic kyphoscoliosis, Triangular face, Broad hallux, Arachnodactyly, ...	ORPHA:481152
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Flexion contracture, Facial palsy	OMIM:615348
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec...	OMIM:601492
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Polyhydramnios, Posterior ...	OMIM:265380
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Polyhydramnios, Micrognathia, Atrial septal defect, Decr...	ORPHA:1662
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Pes planus, Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Distal lower...	OMIM:620080
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi...	OMIM:615297
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca...	OMIM:613795
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion...	OMIM:607684
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Short neck, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narr...	OMIM:269860
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Hip di...	OMIM:254090
Satoyoshi Syndrome	Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ...	OMIM:600705
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Proximal p...	ORPHA:1488
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Optic atrophy, Coxa v...	OMIM:602271
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Relative mac...	OMIM:239000
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equinovarus, Scolio...	ORPHA:85174
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal malrotation, Dextroca...	OMIM:619657
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Metatars...	OMIM:601680
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clinod...	ORPHA:166277
Pseudoxanthoma Elasticum	Abnormal cerebral vascular morphology, High palate, Acne, Sudden cardiac death, Abnormal thorax m...	ORPHA:758
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat...	ORPHA:399086
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Intestinal perforation, Osteolysis involving bones of the upper limbs, Intracranial hemorrhage, A...	ORPHA:464321
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Round face, Micrognathia, Joint stiffness, Kyphosis, Hemivertebr...	ORPHA:2062
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Limitation of joint mobility, Hip dislocation, Slender long bone, Gait d...	ORPHA:2840
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi...	OMIM:609285
C Syndrome	Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Hepatomegaly, Short ...	OMIM:211750
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Short palm, Mandibular prognathia, Narrow nasal bridge, Hyperlordosis, Abnormal thumb morphology,...	ORPHA:2511
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, High palate, Macro...	OMIM:608836
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Hydrocephalus, Unilambdoid synostos...	OMIM:618577
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv...	ORPHA:615
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Skeletal muscle atrophy, Short femur, Microcephaly, Flexion contracture, Ragged-re...	ORPHA:17
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta...	OMIM:182212
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt...	OMIM:206920
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Dental crowding, Joint hypermobility, Narrow nasal ridge, Micrognathia, Vascul...	OMIM:618343
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ...	ORPHA:2909
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto...	ORPHA:171839
Loeys-Dietz Syndrome 5	Pes planus, Decreased muscle mass, Scapular winging, Arachnodactyly, Failure to thrive in infancy...	OMIM:615582
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flar...	OMIM:602557
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Progressive macrocephaly, Polydactyly, Microphthalmia, Leukemia	OMIM:602501
Partington Syndrome	Flexion contracture, Triangular face, Camptodactyly	OMIM:309510
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx o...	ORPHA:221016
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Hepatic fibrosis, Agenesis of corpus callosum, Microretrognathia, ...	OMIM:311200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Increased variability in muscle fib...	OMIM:125250
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch...	OMIM:187600
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Phaver Syndrome	Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon...	ORPHA:2876
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A...	ORPHA:1837
Multiple Sulfatase Deficiency	Coarse facial features, Broad hallux, Ataxia, Splenomegaly, Hypoplastic vertebral bodies, Broad t...	OMIM:272200
Toriello-Carey Syndrome	Micrognathia, Short neck, Partial agenesis of the corpus callosum, Anteriorly placed anus, Anotia...	ORPHA:3338
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Cerebral Cavernous Malformations	Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation	OMIM:116860
Opsismodysplasia	Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Squared i...	ORPHA:2746
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Kyphosis, Thin ribs, Pl...	OMIM:616294
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Dental crowding, Abnormal heart valve morphology, Abnormal pinna morphol...	ORPHA:228410
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Edema, Osteolysis involving bones of the ...	ORPHA:73
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Depressed nasal bridge, Ky...	OMIM:616482
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Back pain, Polycystic liver disease, Abnormality of th...	ORPHA:2924
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Microcephaly, Micrognathia, Knee flexion contracture, Camptodactyly, Micr...	OMIM:619694
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis	OMIM:615066
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607831
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation	OMIM:615035
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoplastic iliac wing, Small hand, Spina bifida occulta, Short foot, Cutaneous finger syndactyly...	OMIM:235510
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Arachnodactyly, Decreased palmar creases, Limited wrist extension, Kyphosi...	OMIM:108145
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa...	ORPHA:2345
Trisomy 12P	Micrognathia, Aplasia/Hypoplasia of the iris, Large hands, Clinodactyly of the 5th finger, Aplasi...	ORPHA:1699
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Micrognathia, Lymphedema, Hamartomatous polyposis, Intracranial hemorrha...	ORPHA:109
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Atrial septal defect, Wide cranial sutures, Bicuspid aortic valve, Pate...	OMIM:619149
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop...	ORPHA:2299
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Cleidocranial Dysplasia	Sinusitis, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Ch...	ORPHA:1452
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat...	OMIM:108721
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Kyphoscoliosis, Lower limb asymmetry, Neonatal epiphyseal stipplin...	ORPHA:35173
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Congenital Gerbode Defect	Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf...	ORPHA:99095
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Cleft ...	ORPHA:1166
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Small ...	ORPHA:221008
Idiopathic Camptocormia	Myositis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Fatty replacemen...	ORPHA:1320
Degcags Syndrome	Osteopenia, Polyhydramnios, Micrognathia, Prominent nose, High palate, Atrial septal defect, Diap...	OMIM:619488
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Joint hyperflexibility, Scoliosis, Short nose, Convex nasal...	ORPHA:1695
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Pes planus, Hyperextensibility of the...	OMIM:130000
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo...	ORPHA:2311
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Polyhydramnios, Abnormal left ventricular function, Pulmonary artery atresia, Agenesis of corpus ...	OMIM:301056
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Micrognathia, Metaphyseal c...	OMIM:156400
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Overlapping toe, Genu recurvatum, Anteverted nares, Depressed nasa...	OMIM:617301
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni...	OMIM:602535
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci...	ORPHA:1416
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Peroxisome Biogenesis Disorder 5A (Zellweger)	Round face, Persistent open anterior fontanelle, Small for gestational age, Single transverse pal...	OMIM:614866
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Prominence of the premaxilla, Delayed closure of the anterior font...	OMIM:614886
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm	ORPHA:168555
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Depressed nasal ridge, Knee flexion con...	OMIM:271665
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Panner Disease	Limited elbow movement, Abnormality of the humerus, Irregular articular surfaces of the elbow joi...	ORPHA:97336
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n...	ORPHA:90117
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Rocker bottom foot, Short neck, Wide nasal bridge, Respiratory failure, ...	OMIM:618804
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Patent foramen ovale, Joint laxity, Anteverted nares, Patent ductus arteri...	ORPHA:500159
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Small for gestational age, Diastasis recti, Single transverse palmar crease, Bi...	OMIM:618419
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Abnormal facial shape, Microcephaly	OMIM:616335
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Hepatomegaly, Death in infancy, Anteverted nares, Depressed na...	ORPHA:85212
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial bowing, Short p...	OMIM:601812
Cantú Syndrome	Cardiomegaly, Short neck, Narrow chest, Broad ribs, Finger syndactyly, Broad hallux phalanx, Ante...	ORPHA:1517
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Symmetric peripheral demyelination, Gliosis, Leukodystrophy, Autonomic bladder dysfunction, Auton...	OMIM:169500
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Flexion contracture, Hip dysplasia, Scoliosis, Short nose	OMIM:618379
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Optic atroph...	OMIM:615042
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Micrognathia,...	OMIM:619472
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Relative macrocephaly, Increased bone mineral density, Micrognathia, Macrocephaly, Osteopetrosis,...	OMIM:617306
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb...	OMIM:619795
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Flexion...	ORPHA:2590
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Hao-Fountain Syndrome	Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles, Delayed cranial suture closure	OMIM:616863
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
8P23.1 Duplication Syndrome	Wide nose, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, ...	ORPHA:251076
Temple-Baraitser Syndrome	Wide nose, Broad hallux, Depressed nasal bridge, Proximal placement of thumb, Adducted thumb, Dow...	OMIM:611816
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Narrow face, Single transverse palmar crease, Symphalangism affecti...	OMIM:186500
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Optic atrophy, Shor...	ORPHA:1495
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Verheij Syndrome	Joint laxity, Vertebral fusion, Branchial cyst, Anteverted nares, Optic nerve hypoplasia, Short n...	OMIM:615583
Spondylosis, Cervical	Osteoarthritis, Spina bifida occulta, Cervical spondylosis	OMIM:184300
Frontoocular Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Pectus excavatum, Narrow philtrum...	OMIM:605321
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Dental crowding, Abnormal heart valve morphology, Abnormality of the dentition, Small hand, Mitra...	ORPHA:2868
20Q11.2 Microduplication Syndrome	Coarse facial features, Prominent metopic ridge, Microcephaly, Short foot, Deep palmar crease, Fl...	ORPHA:363659
Marshall Syndrome	Micrognathia, Osteoarthritis, Hypoplastic frontal sinuses, Genu valgum, Flat face	ORPHA:560
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn...	ORPHA:1507
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Aymé-Gripp Syndrome	Prominent metopic ridge, Pericarditis, Asymmetric crying face, Rocker bottom foot, Craniosynostos...	ORPHA:1272
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Postaxial polydactyly, Microcephaly, Gait disturbance, Abnormal facial shape, Triangular ...	ORPHA:544254
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Atrial septal defect, P...	OMIM:610443
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Bilateral single transverse palmar creases, Camptodactyly of f...	ORPHA:261211
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Parachute mitral valve, Prominent nose, Short philtrum, Atrial septal defect, Pu...	OMIM:618316
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Depressed nasal bridge, Joint hypermobility, Thora...	OMIM:618853
Al Kaissi Syndrome	Pes planus, Torticollis, Broad-based gait, Microcephaly, Decreased head circumference, Small hand...	OMIM:617694
Cerebrooculofacioskeletal Syndrome 2	Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Microcephal...	OMIM:610756
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin...	ORPHA:371428
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ...	OMIM:601455
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Underdeveloped nasal alae, Kyphosis, Limited elbow extension, Short...	OMIM:180870
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Abnormally large globe, Wide anterior fontanel, Flared ...	OMIM:269300
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Spinocerebellar Ataxia Type 43	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	ORPHA:497764
Schimke Immunoosseous Dysplasia	Osteopenia, Waddling gait, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid v...	OMIM:242900
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Genu ...	ORPHA:2502
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat...	OMIM:619148
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Pectoral muscle hypoplasia/a...	OMIM:136760
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Micrognathia, Patent ductus arteriosus, Macrotia, 2-3...	ORPHA:3304
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Micromelia, Short neck, Micrognathia, Dyspnea, Hypo...	ORPHA:3015
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b...	ORPHA:2878
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Joint stiffness, ...	ORPHA:2107
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Menkes Disease	Micrognathia, Venous insufficiency, Intracranial hemorrhage, Narrow chest, Osteoporosis, Joint hy...	ORPHA:565
Hartsfield Syndrome	Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis	ORPHA:2117
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, Short ...	OMIM:614524
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ...	ORPHA:1553
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Joint stiffness, Deviation of finger, Bilateral talipes equinovarus, Congenital f...	ORPHA:1154
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna	ORPHA:77296
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Menkes Disease	Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Intracranial hemorrhage, Dea...	OMIM:309400
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars...	OMIM:614613
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, Postaxial foot p...	ORPHA:474
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination	ORPHA:101082
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Three M Syndrome 2	Relative macrocephaly, Scapular winging, Lumbar hyperlordosis, Small for gestational age, Hyperlo...	OMIM:612921
Glutamine Deficiency, Congenital	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Micromelia, Apnea, Flexi...	OMIM:610015
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Micrognathia, High palate, Atrial septal d...	OMIM:619343
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Microcephaly, Increased skull ossification, Abnor...	ORPHA:1422
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower...	OMIM:249670
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Cortica...	OMIM:122860
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect...	OMIM:608978
Pallister-Hall-Like Syndrome	Death in infancy, Occipital encephalocele, Toe syndactyly, Depressed nasal bridge, Micromelia, Mi...	OMIM:241800
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s...	OMIM:619574
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination	OMIM:616287
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal vertebral morpholo...	ORPHA:93473
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Optic disc pallor, Ptosis	OMIM:617235
Trisomy 13	High, narrow palate, Hydrops fetalis, Narrow chest, Atrial septal defect, Patent ductus arteriosu...	ORPHA:3378
Silver-Russell Syndrome 3	Relative macrocephaly, Syndactyly, Small for gestational age, Elbow contracture, Small hand, Ante...	OMIM:616489
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Abnor...	ORPHA:3152
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, S...	OMIM:166250
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E...	ORPHA:2249
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Kbg Syndrome	Vertebral fusion, Round face, Persistent open anterior fontanelle, Single transverse palmar creas...	ORPHA:2332
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Hydrops fetalis, Pectus carinatum, Narrow greate...	OMIM:253220
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Toe syndactyly, Single transverse palmar crease, Proximal placement of thumb, Limited elbow movem...	OMIM:610759
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Respiratory in...	OMIM:187601
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Congenital Rubella Syndrome	Skin rash, Microcephaly, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasia of the iris, Micropht...	ORPHA:290
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Malar flattening, Shor...	ORPHA:2145
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Aortic regurgitation, Arachnodact...	OMIM:609008
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora...	OMIM:304120
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Flat face, Broad thumb, Micrognathia	ORPHA:2001
Chromosome 10Q26 Deletion Syndrome	Scapular winging, Toe syndactyly, Congenital hip dislocation, Sandal gap, Craniosynostosis, Small...	OMIM:609625
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Os...	OMIM:300373
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Hydrocephalus, Re...	ORPHA:1895
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction...	OMIM:617228
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proximal limb muscles, Low...	ORPHA:171881
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Microcephaly, Abnormality of...	ORPHA:3130
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Spondyloepiphyseal Dysplasia, Kimberley Type	Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum	OMIM:608361
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Cone-shaped epiphysis, Platyspon...	ORPHA:71267
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Macrocephaly	ORPHA:1506
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d...	ORPHA:163979
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re...	OMIM:619773
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Conical tooth, Deep philtrum, Long thorax, Sho...	OMIM:619143
Neuromyelitis Optica Spectrum Disorder	Peripheral demyelination	ORPHA:71211
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, Abnormality of t...	ORPHA:2491
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Ptosis, Abnormal muscle fiber protein expression	ORPHA:330054
Loeys-Dietz Syndrome 6	Long face, Pes planus, Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Interv...	OMIM:619656
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Coarse facial features, Seborrheic dermatitis, Limitation of joint mobil...	OMIM:259100
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Ptosis, Centrally nucleated skeletal muscle fibers, Ra...	OMIM:607459
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Long thorax, Narrow greate...	OMIM:617925
Mulchandani-Bhoj-Conlin Syndrome	Hyperlordosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly, Failure to thrive, Triangular face	OMIM:617352
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Polyhydramnios, Long nose, ...	ORPHA:508533
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus c...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus c...	ORPHA:363958
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Failure to thrive in infancy, Flexion contracture, Lon...	OMIM:619026
Autosomal Dominant Brachyolmia	Increased vertebral height, Abnormal metaphysis morphology, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Congenital contracture, Respiratory failure	OMIM:225753
Ehlers-Danlos Syndrome, Hypermobility Type	Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility	OMIM:130020
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Prominent vei...	ORPHA:536532
Central Core Disease	Multiple joint contractures, Congenital hip dislocation, Myopathy, Type 1 muscle fiber predominan...	ORPHA:597
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:613752
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Long face, Joint stiffness, Microcephaly, Short long bone...	OMIM:619184
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl...	OMIM:605432
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Anteverted nares, Short neck, Progressive intervertebral...	ORPHA:1716
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio...	ORPHA:449285
Classic Homocystinuria	Dental crowding, Pulmonary embolism, Pectus carinatum, Intracranial hemorrhage, High palate, Hepa...	ORPHA:394
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses...	OMIM:305620
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide nasal bridge, Co...	ORPHA:1513
Monosomy 22	Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Microcephaly, Seborrhe...	ORPHA:96123
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Platyspondyly, Joint stiffness	ORPHA:1345
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Triangular face, Arachnodactyly, Cachexia, Microcephaly, Micrognathia, Small han...	ORPHA:371364
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy...	OMIM:154780
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Optic atrophy, Inc...	ORPHA:561
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t...	ORPHA:85184
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Cardiac-Valvular Ehlers-Danlos Syndrome	Joint dislocation, Dental crowding, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal ...	ORPHA:230851
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Ataxia, Optic nerve hypoplasia, Hy...	ORPHA:221139
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynos...	ORPHA:2314
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Axonal loss, Peripheral demyelination	OMIM:617672
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia, Abnormal rib morphology	ORPHA:195
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Ant...	OMIM:616503
Fanconi Anemia, Complementation Group S	Coarse facial features, Ataxia, Proximal placement of thumb, Microcephaly, Microphthalmia, Clinod...	OMIM:617883
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Circumvallate Placenta Syndrome	Intracranial hemorrhage, Polyhydramnios, Respiratory insufficiency	OMIM:215550
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibia...	OMIM:601559
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Avascular necrosis of the capital femoral epiphysis, Hypopl...	OMIM:184100
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Prominent nasal bri...	ORPHA:1703
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation	OMIM:615284
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Acne, Anteverted nares, Micrognathia, Short neck, Kyphosis, Bi...	ORPHA:3191
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Arrhythmia	OMIM:618453
Congenital Disorder Of Glycosylation, Type Ii	Joint laxity, Microcephaly, Iron deficiency anemia, Decreased body weight, Flat face	OMIM:607906
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ...	ORPHA:276422
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Delayed eruption of primary ...	OMIM:265800
Refsum Disease	Skeletal muscle atrophy, Short metacarpal, Ataxia, Abnormal foot morphology, Splenomegaly, Hammer...	ORPHA:773
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose	OMIM:125700
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, Aplasia/Hypoplasia of the middle phalanx of the 3r...	ORPHA:96149
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Microcephaly-Micromelia Syndrome	Craniosynostosis, Absent thumb, Absent radius, Microcephaly, Micromelia, Humeroradial synostosis,...	OMIM:251230
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu...	ORPHA:36382
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome	Absent frontal sinuses, Round face, Palmoplantar keratoderma, Flat face	ORPHA:2536
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke	OMIM:182410
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Thickened helices, Broad ribs, Broad me...	OMIM:608328
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Proximal placement of thumb, Micrognathia, Short neck, Anteriorly placed an...	OMIM:217980
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Skeletal muscle atrophy, Facial palsy, Microcephaly, Abnormal muscle f...	ORPHA:3068
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Microcephaly, Joint stiffness, Flexion contracture, Macroglossia, Talipes eq...	ORPHA:847
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis	OMIM:126550
Coffin-Siris Syndrome 7	Bicuspid aortic valve, Polyhydramnios, Downturned corners of mouth, Short philtrum, Clinodactyly ...	OMIM:618027
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius, Microcephaly	ORPHA:3469
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Joint dislocation, Single transverse ...	OMIM:616145
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges o...	ORPHA:2990
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Atrial septal defect, Joint laxity, Prominent metopic ridge, Arachnodactyl...	OMIM:619721
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Skeletal muscle atrophy, Respiratory distress, Cholangitis, Pulmonary embolism, In...	ORPHA:3260
Noonan Syndrome 11	Posteriorly rotated ears, Depressed nasal bridge, Pectus excavatum, Bulbous nose, Thick vermilion...	OMIM:618499
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Round face, Rhizomelia, Abnormality ...	ORPHA:319182
Peho-Like Syndrome	Short nose, Retrognathia, Optic atrophy, Tapered finger	OMIM:617507
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, Neutro...	OMIM:609053
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxial hand polydacty...	OMIM:175700
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Asplenia, Short neck, Lobulated tongue, Agenesis of corpus...	OMIM:249000
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Micrognathia, Cardiomegaly, Short neck, Hydrops fetalis, Femoral ...	OMIM:617022
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w...	OMIM:617809
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Peripheral demyelination, Leukodystrophy	OMIM:614877
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Atrial septal defect, Prominent fingertip pads, Atriov...	OMIM:300867
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Osteopathia striata, Finger joint hypermobility, Short palm, Sh...	OMIM:212720
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:614096
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Death in infancy, Camptodactyly of finger, Abnormal pulmonary valve morphology, Con...	ORPHA:1194
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Small face, Cone-shaped ep...	OMIM:309350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contr...	OMIM:606612
Mosaic Trisomy 9	Polyhydramnios, Micrognathia, Asplenia, Short neck, Micromelia, Hemivertebrae, Hydrops fetalis, F...	ORPHA:99776
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Microcephaly, Inability to walk, Flexion contracture, Calf muscle hypertrophy, Macr...	OMIM:613155
Trisomy 17P	Skeletal muscle atrophy, Micrognathia, Short neck, Prominent nose, Flexion contracture, Orofacial...	ORPHA:261290
Van Den Bosch Syndrome	Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	ORPHA:3417
Mucolipidosis Iii Alpha/Beta	Coarse facial features, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregul...	OMIM:252600
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Holoprosencepha...	ORPHA:1908
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Wormian bones, Sho...	OMIM:601224
Posterior Column Ataxia With Retinitis Pigmentosa	Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination	OMIM:609033
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Micrognathia, Microcephaly, Abnormality of the spleen, Osteopoikilosis, ...	ORPHA:94063
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve...	ORPHA:87
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnorma...	ORPHA:2633
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Momo Syndrome	Large for gestational age, Bilateral microphthalmos, Obesity, Femoral bowing, Macrocephaly, Large...	ORPHA:2563
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Hemi...	ORPHA:508488
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postax...	OMIM:617102
2Q31.1 Microdeletion Syndrome	Narrow face, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, ...	ORPHA:251014
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Vertigo, Arterial stenosis	ORPHA:820
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607250
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Relative macrocephaly, Microretrognathia, Coarse facial features, Rhizomelia, Postaxial polydacty...	OMIM:616300
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Micrognathia, Morgagni diaphragmatic hernia, Periorbital edema, Rectal prolapse, Deat...	OMIM:613177
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Dental crowding, Limited elbow movement, Micrognathia, High,...	ORPHA:558
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares	ORPHA:1450
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Preaxial polydactyly, Abnormal sternum ...	OMIM:192350
Mulibrey Nanism	Triangular face, Single transverse palmar crease, Absent frontal sinuses, Hypoplastic frontal sin...	OMIM:253250
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Sho...	OMIM:615222
Skin Creases, Congenital Symmetric Circumferential, 1	Micrognathia, Microcephaly, Long fingers, Microphthalmia, Flat face	OMIM:156610
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Tapered finger, Decreased nerve conduction velocity, L...	OMIM:218000
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Dysplastic corpus callo...	OMIM:619103
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Proteus Syndrome	Thin bony cortex, Depressed nasal bridge, Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Mand...	OMIM:176920
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Respiratory insufficie...	ORPHA:1461
19P13.12 Microdeletion Syndrome	Short neck, Short palm, Atrial septal defect, Conductive hearing impairment, Clinodactyly of the ...	ORPHA:254346
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Intestinal malrotation, Depressed nasal bridge, Abnormali...	ORPHA:3426
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc...	OMIM:620161
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Abnormal small intestine...	ORPHA:90291
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect,...	ORPHA:329224
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr...	OMIM:617397
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short...	OMIM:302950
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly, Obesity	ORPHA:141333
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Cleft upper lip, Short neck, D...	OMIM:243310
Heterotaxy, Visceral, 7, Autosomal	Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ...	ORPHA:2712
Paget Disease Of Bone 6	Left ventricular hypertrophy, Osteoarthritis, Recurrent fractures	OMIM:616833
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Splenomegaly, Recurr...	OMIM:612301
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o...	ORPHA:3121
Basal Cell Nevus Syndrome 1	Vertebral fusion, Coarse facial features, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Pl...	OMIM:109400
Joubert Syndrome 15	Exencephaly	OMIM:614464
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Anteverted nares, Tapered finger, Bulbous nose, Flexion contracture, Optic atrophy, Respiratory f...	OMIM:616505
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Wide nose, Osteomyelitis, Recurrent skin infections, Eczema, Micrognath...	OMIM:618282
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Relative macrocephaly, Prominent fingertip pads, Small for gestational age, Narrow foot, Clinodac...	ORPHA:231137
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing...	OMIM:600920
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Pes planus, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Gait...	OMIM:620098
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Hypoplastic vertebral bodies, Long toe, Ataxia, 2-3 toe syndac...	ORPHA:3455
Alg9-Cdg	Villous atrophy, Micrognathia, Short neck, Hydrops fetalis, Right ventricular dilatation, Large f...	ORPHA:79328
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Sacral dimple, Prominent nasal bridge, Micrognathia, Short neck, Broad nasal tip, T...	OMIM:613544
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Depressed nasal brid...	OMIM:226980
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Sacral dimple, Ventricular septal defect, Depressed nasal bridge, Esophagea...	OMIM:301030
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Metatarsus adductus, Premature osteoarthritis, 2-3 toe syndactyly, Pseudoep...	OMIM:611962
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim...	ORPHA:2204
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Small for gestational age, Delayed closure of the anterior fontan...	OMIM:127000
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Ph...	OMIM:259770
Arterial Tortuosity Syndrome	Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Pe...	OMIM:208050
Fanconi Anemia, Complementation Group R	Radial dysplasia, Microcephaly, Absent thumb, Scoliosis, Microphthalmia, Anemia	OMIM:617244
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Respiratory failure, Wide anterior fontanel, Death in infancy	OMIM:618240
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Abnormal pinna morphology, Pectus excavatum, Perianal abscess, Pericard...	OMIM:614684
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Joint ...	OMIM:277600
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener...	ORPHA:508498
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Tented upper lip vermilion, Short neck, High, nar...	ORPHA:488632
Dpm3-Cdg	Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness	ORPHA:263494
Legius Syndrome	Posteriorly rotated ears, Micrognathia, Pectus excavatum, High, narrow palate, Short neck, Suprav...	OMIM:611431
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Small for gestational age, Anterior ri...	OMIM:260400
Noonan Syndrome 14	Polyhydramnios, Short neck, High, narrow palate, Pectus carinatum, Scapular winging, Prominent na...	OMIM:619745
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Abno...	ORPHA:2588
Joubert Syndrome 27	Polydactyly, Triangular face, Ataxia, Gait ataxia	OMIM:617120
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Flexion contracture, Hepatic steatosis, Hepatomegaly, Hyperlordosis, Centrally nuclea...	OMIM:613327
Czech Dysplasia	Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ...	OMIM:609162
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Edema, Cleft upper lip, Microgn...	OMIM:312150
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic ilia, Hypopla...	OMIM:169550
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, Genu varum, ...	OMIM:264090
Intellectual Developmental Disorder, Autosomal Dominant 48	Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Eczema, Anteverted nares, Promine...	OMIM:617751
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ...	OMIM:119600
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Micrognathia, Deep phil...	OMIM:619720
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu...	ORPHA:206572
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Coarse facial features, Proximal phalangeal periosteal thickening, Clubbing, Osteolytic defects o...	OMIM:161700
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Short neck, De...	OMIM:115150
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Short neck, Reduced forced vital capacity, Reduced forced expiratory...	OMIM:613686
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Optic atrophy, Recurrent fractures	ORPHA:2773
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the ...	ORPHA:798
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, High, narrow palate, Abnormal sternum morphology, High palate, Broad uvula...	OMIM:614816
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Arachnodactyly, Inability to walk, Secondary microcephaly, Failure to th...	OMIM:616420
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Anteriorly placed anus, Atrial septal defect, Prominent fingertip pads, Pate...	OMIM:618494
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy...	OMIM:600001
Loeys-Dietz Syndrome	Joint dislocation, Micrognathia, Orofacial cleft, Pectus carinatum, High palate, Bifid uvula, Abn...	ORPHA:60030
19P13.3 Microduplication Syndrome	Ventricular septal defect, Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Prominent nose...	ORPHA:447980
Propionic Acidemia	Hepatomegaly, Apnea, Eczema, Cerebellar hemorrhage, Tachypnea, Osteoporosis, Dehydration, Cardiom...	OMIM:606054
Silver-Russell Syndrome 2	Relative macrocephaly, Delayed closure of the anterior fontanelle, Micrognathia, 2-3 toe syndacty...	OMIM:618905
Keutel Syndrome	Wide nose, Ventricular septal defect, Depressed nasal bridge, Hearing impairment, Underdeveloped ...	ORPHA:85202
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep...	OMIM:617137
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Split hand, Wide nasal bridge, Respiratory failure	ORPHA:168486
White Forelock With Malformations	Low-set, posteriorly rotated ears, Finger syndactyly, Atrial septal defect, Deep philtrum, Abnorm...	ORPHA:2475
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination	OMIM:616733
Trisomy 1Q	Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Agenesis of corpus callosum, Mi...	ORPHA:261344
Phosphoribosylaminoimidazole Carboxylase Deficiency	Missing ribs, Lumbar hemivertebrae, Talipes equinovarus, Clinodactyly of the 5th finger, Flat face	OMIM:619859
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Neutropenia, Short palm, Joint laxity, Lumbar hy...	OMIM:250250
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Osteopenia, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Flexion contractur...	ORPHA:75496
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Narrow nasal bridge, Toe syndactyly, Metatarsus valg...	ORPHA:3082
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Intellectual Disability, Buenos-Aires Type	Microcephaly, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Biparietal na...	ORPHA:3079
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clinodactyly, Short nose	ORPHA:261120
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand...	ORPHA:420794
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Depressed nasal ridge, Respiratory failure, Limb undergrowth, Abnorm...	ORPHA:1861
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Myopathy, Arthritis, I...	ORPHA:397744
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Tapered finger, Hip dysplasia, Clinodactyly of the 5th finger, Sh...	OMIM:617991
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d...	ORPHA:56
Hemochromatosis, Type 4	Osteoarthritis, Anemia	OMIM:606069
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle...	OMIM:619903
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of ...	OMIM:616894
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus, Limb hypertonia	OMIM:620306
Omodysplasia 2	Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume...	OMIM:164745
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Failure to thrive in infancy, Tapered finger, Micr...	ORPHA:193
Periventricular Nodular Heterotopia 7	Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n...	OMIM:617201
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the...	ORPHA:2255
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta	ORPHA:1514
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Right atrial enlargem...	OMIM:614008
3Q29 Microdeletion Syndrome	Narrow face, Facial asymmetry, Microcephaly, Tapered finger, Joint hyperflexibility, Six lumbar v...	ORPHA:65286
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Thoracic scoliosis, Flat face	OMIM:616994
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Microcephaly, Hip dislocation, Talipes equinovarus, Wormian bones, Tria...	OMIM:616603
Menke-Hennekam Syndrome 2	Square face, Sandal gap, Overlapping toe, Micrognathia, Cutaneous syndactyly of toes, Flat face, ...	OMIM:618333
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Apnea, Micrognathia, Cardiomegaly, Secundum at...	OMIM:300855
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Short metacarpal, Toe syndactyly, Scapular winging, Facial asymmetry, Microcephaly,...	OMIM:170390
Renpenning Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Macrodontia, Joint stiffness, Pectus excavatum, A...	ORPHA:3242
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Micrognathia, Anemia, Elliptocytosis, Talipes equinovarus, Broa...	OMIM:300990
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Adenylosuccinate Lyase Deficiency	Prominent metopic ridge, Anteverted nares, Short nose	ORPHA:46
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Metaphyseal dysplasia, Epiphyseal dysplasia, Depressed nasal bridge, Craniosynostosis...	OMIM:614732
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Skeletal muscle atrophy, Thoracic scoliosis, Respiratory distress, Death i...	OMIM:620278
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Tapered finger, Finger clinodactyly, Scoliosis, Camptodactyly, Flat face, Bra...	OMIM:601353
Intermediate Nemaline Myopathy	Facial palsy, Multiple prenatal fractures, Flexion contracture, Facial diplegia, Respiratory fail...	ORPHA:171433
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Silver-Russell Syndrome	Relative macrocephaly, Decreased muscle mass, Sandal gap, Failure to thrive in infancy, Cachexia,...	ORPHA:813
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ...	ORPHA:2547
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop...	ORPHA:217085
Alg3-Cdg	Osteopenia, Abnormal pinna morphology, Abnormality of the nose, Metaphyseal chondrodysplasia, Abn...	ORPHA:79321
Camptodactyly Syndrome, Guadalajara, Type Iii	Small hypothenar eminence, Torticollis, Absent phalangeal crease, Joint contracture of the hand, ...	OMIM:611929
Gm1 Gangliosidosis Type 1	Spatulate ribs, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Aspiration pneum...	ORPHA:79255
Flat Face-Microstomia-Ear Anomaly Syndrome	Camptodactyly of finger, Micrognathia, Scoliosis, Flat face, Long face	ORPHA:1968
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Congenital diaphragmatic hernia, Microcephaly	OMIM:300887
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver...	ORPHA:2769
Marden-Walker Syndrome	Decreased muscle mass, Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology...	OMIM:248700
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:609192
Sheldon-Hall Syndrome	Narrow face, Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar ...	ORPHA:1147
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Bilateral ptosis, Ragged-red muscle fibers, Optic atrophy,...	OMIM:258450
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,...	ORPHA:1652
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Lymphedema, Downturned corners of mouth, Abnormal sternum morphology...	OMIM:616737
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Anteverted nares, Optic atrophy, Reduced bone mineral density, Joint hyperflexib...	ORPHA:1185
Geroderma Osteodysplastica	Beaking of vertebral bodies, Mandibular prognathia, Recurrent fractures, Osteoporosis, Hip disloc...	ORPHA:2078
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de...	ORPHA:263508
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo...	ORPHA:465
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Round face, Ataxia, Abnormality of the hand, Abnormal foot morphology, Bilateral micr...	ORPHA:369891
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Micrognathia, Bronchiectasis, Reduced natural killer cell count, Macrogloss...	OMIM:242860
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymit...	ORPHA:1304
Marfan Syndrome	Decreased muscle mass, Narrow face, Genu recurvatum, Equinus calcaneus, Micrognathia, Flexion con...	OMIM:154700
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Nathalie Syndrome	Arrhythmia, Sensorineural hearing impairment	ORPHA:2663
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Thoracic scoliosis, Micrognathia, Microcephaly, Lumbar scoliosis, Talipes equinovarus, Microphtha...	OMIM:616171
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Calcaneovalgus deformity, Optic atr...	ORPHA:3078
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop...	ORPHA:217093
Mirage Syndrome	Rocker bottom foot, Radial club hand, Patent ductus arteriosus, Esophageal stricture, Hydrocephal...	OMIM:617053
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Failure to thrive, Ragged-red muscle fibers, Generalized amyotrophy, Ptosis	OMIM:613561
Intellectual Developmental Disorder, Autosomal Recessive 45	Round face, Flat face, Coarse facial features	OMIM:615979
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ea...	ORPHA:284169
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Micrognathia, Joint stiffness, High, narrow palate, Short neck, Underd...	ORPHA:2516
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly, Thrombocytopenia, Microcephaly	OMIM:619981
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita...	OMIM:615330
Robinow Syndrome, Autosomal Dominant 1	Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Micrognathia, Wide ...	OMIM:180700
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Fibrochondrogenesis	Micromelia, Short neck, Abnormal form of the vertebral bodies, Narrow chest, Broad ribs, Antevert...	ORPHA:2021
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bon...	ORPHA:50945
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Knee flexion contracture, High palate, Atrial septal defect, Clinodactyly of t...	OMIM:618162
Hypokalemic Periodic Paralysis	Fatigable weakness of respiratory muscles, Increased intramyocellular lipid droplets, Abnormal mu...	ORPHA:681
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Microcephaly, ...	OMIM:613803
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Dural Sinus Malformation	Pulsatile tinnitus, Cerebral hemorrhage, Subarachnoid hemorrhage, Ear pain, Cerebellar hemorrhage...	ORPHA:97339
Mucopolysaccharidosis, Type X	Aortic regurgitation, Beaking of vertebral bodies, Thickened aortic valve cusp, Spatulate ribs, B...	OMIM:619698
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Fontaine Progeroid Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Hypoplasia of th...	OMIM:612289
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Obesity, Short long bone, Horizontal ribs, Brachydactyly	OMIM:615633
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly, ...	OMIM:227645
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat...	ORPHA:624
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Joint s...	ORPHA:583
Warburg Micro Syndrome 3	Decreased muscle mass, Kyphoscoliosis, Micrognathia, Microcephaly, Inability to walk, Flexion con...	OMIM:614222
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Delaye...	ORPHA:90349
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Microcephaly, Obesity, Aniridia, Biparietal narrowi...	ORPHA:251038
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypo...	OMIM:617895
Desmosterolosis	Micromelia, Micrognathia, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ...	ORPHA:35107
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, High, narrow palate, High palate, Narrow chest, Scapular...	OMIM:616914
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Asplenia, Atrial septal defect, Atrioventricular can...	ORPHA:210122
Trigeminal Neuralgia	CNS demyelination, Cranial nerve compression, Peripheral demyelination	ORPHA:221091
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short neck, Abnormal respi...	ORPHA:171866
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Lymphedema, Anteriorly ...	ORPHA:314679
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Marbach-Rustad Progeroid Syndrome	Femur fracture, Micrognathia, Microcephaly, Reduced bone mineral density, Short clavicles, Wormia...	OMIM:619322
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia, Congenital hip dislocation, Facial asymmetry	OMIM:164180
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar disl...	ORPHA:93328
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Anteverted nares, Micromelia, Genu...	ORPHA:1035
Localized Scleroderma	Skeletal muscle atrophy, Fasciitis, Flexion contracture, Uveitis, Upper limb asymmetry, Arthritis...	ORPHA:90289
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, Short neck, Clinodactyly of the 5th finger, Short nose	ORPHA:217385
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Lacun...	ORPHA:136
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Tapered fin...	OMIM:616977
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atrophy, My...	ORPHA:254886
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular sept...	OMIM:614815
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Promin...	ORPHA:2636
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Spina bifida oc...	ORPHA:230839
Koolen-De Vries Syndrome	Bicuspid aortic valve, High, narrow palate, Protruding ear, Vertebral segmentation defect, Microd...	ORPHA:96169
Tangier Disease	Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination	OMIM:205400
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Abnor...	OMIM:615665
Farber Disease	Abnormality of the knee, Skeletal muscle atrophy, Abnormality of the hand, Abnormality of the wri...	ORPHA:333
Acromegaly	Coarse facial features, Acne, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Deep planta...	ORPHA:963
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia	OMIM:619057
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthr...	OMIM:106300
Snijders Blok-Campeau Syndrome	Joint laxity, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, P...	OMIM:618205
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Bowing of...	ORPHA:1855
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Finger clin...	ORPHA:1692
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Short metacarpal, ...	OMIM:258480
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Occipital encephalocele, Encephalocele, Anteverted n...	OMIM:216360
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, High pa...	OMIM:617602
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Edema, Micrognathia, Polyhydram...	OMIM:253290
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent...	ORPHA:2180
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Anteriorly placed anus, Glossoptosis, H...	OMIM:117650
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Short neck, Absent frontal sinuses, Pectus carinatum, Downturned corner...	ORPHA:955
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Metaphyseal dysplasia, Epiphyseal dysplasia, Death in infancy, Depressed nasal bridge, Kyphoscoli...	OMIM:617425
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Microcephaly, Micrognathia, Elbow dislocation, Irregular femoral epiphys...	OMIM:613805
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Fused teeth, High palate,...	OMIM:613610
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Joint stiffness, Metatarsus adductus, Coxa valga, Avascular ne...	ORPHA:2557
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl...	ORPHA:169802
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Adams-Oliver Syndrome 2	Single transverse palmar crease, Micrognathia, Microcephaly, Absent distal phalanges, Short middl...	OMIM:614219
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Micrognathia, Short phalanx of finger, Joint laxity, Wide anterior fontanel, Short to...	OMIM:225410
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Coarse facial features, Splenomegaly, Limitation of joint mobil...	ORPHA:580
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Lowe...	ORPHA:2092
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Joint stiffnes...	ORPHA:465508
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate...	ORPHA:3320
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br...	ORPHA:93259
Noonan Syndrome 7	Depressed nasal bridge, Thickened helices, Joint hypermobility, Short neck, Pectus excavatum, Cub...	OMIM:613706
Harrod Syndrome	Narrow face, Arachnodactyly, Microcephaly, Kyphosis, Abnormal shoulder morphology, Joint hyperfle...	ORPHA:2115
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Genu valgum, Reduced bone mineral density, Short nose, Spina bifida occulta	ORPHA:2983
Silver-Russell Syndrome 1	Syndactyly, Small for gestational age, Micrognathia, Abnormal foot morphology, Craniofacial dispr...	OMIM:180860
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Hypoplasia of the maxill...	OMIM:619142
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Down Syndrome	Joint laxity, Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Ma...	OMIM:190685
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Slender nose, Micrognathia, Optic atrophy, Scoliosis, ...	OMIM:615419
Xeroderma Pigmentosum, Complementation Group G	Small for gestational age, Ataxia, Microcephaly, Microphthalmia, Pes cavus	OMIM:278780
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Left ventricular noncompaction, Inc...	OMIM:252011
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Respiratory distress, Overlapping toe, Anteverted nares, Flexion contracture...	OMIM:619383
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Conductive hearing impairment, Short met...	ORPHA:217017
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Micrognathia, Congenital contracture, Gait disturbance...	OMIM:618578
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Macrocephaly, Arthritis,...	ORPHA:575
Yuan-Harel-Lupski Syndrome	Joint laxity, Pes planus, Broad-based gait, Sandal gap, Talipes equinovalgus, Unsteady gait, Gait...	OMIM:616652
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Pes planus, Broad-based gait, Sandal gap, Failure to thrive in infancy, Abnormal fo...	ORPHA:477817
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Decreased nerve conduction velocity, Tachypnea, Degeneration of anterior...	OMIM:604320
Somatomammotropinoma	Coarse facial features, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Deep plantar crea...	ORPHA:314769
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, O...	ORPHA:286
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Kyphoscoliosis, Polyhydramnios, Patent ductus arteriosus, Hip dislocation, Wide nasal...	OMIM:618005
Distal 17P13.1 Microdeletion Syndrome	Triangular face, Arachnodactyly, Limited elbow movement, Microcephaly, Abnormal hand morphology, ...	ORPHA:319171
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Mgat2-Cdg	Osteopenia, Respiratory distress, Dental crowding, Hydrops fetalis, Abnormal bleeding, Low-set, p...	ORPHA:79329
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short neck, Pectus excavatum, Reduced bone mineral density, Wide mouth...	OMIM:615279
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Thin upper lip vermilion, Otosclerosis, Micrognathia, Short neck, Abnormal...	ORPHA:529962
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Short neck, High palate, Atrial septal defect, Clino...	OMIM:612582
Noonan Syndrome 5	Mandibular prognathia, Depressed nasal bridge, Thickened helices, Polyhydramnios, Short neck, Cub...	OMIM:611553
Noonan Syndrome 4	Abnormal bleeding, Pectus excavatum of inferior sternum, Ventricular septal defect, Thickened hel...	OMIM:610733
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shortening, Limited p...	ORPHA:163654
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Hypoplas...	OMIM:261540
Alazami Syndrome	Slender long bone, Triangular face, Scoliosis, Mild microcephaly	ORPHA:319671
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major...	ORPHA:2911
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo...	OMIM:609560
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Flat glenoid fossa, Flexion contracture, Hemivertebrae, Cutaneous ...	OMIM:224690
Prune Belly Syndrome	Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Pectus excavatum, ...	ORPHA:2970
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal widening, T lymphocytopenia, Irregular vertebral endplates, Neutropenia, Juvenile rhe...	OMIM:607944
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress...	ORPHA:93258
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Cerebral dysmyelination, Short-segmen...	OMIM:609136
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Myoclonic-Astatic Epilepsy	Syndactyly, Ataxia, Microcephaly, Unsteady gait, Microphthalmia, Abnormal facial shape	ORPHA:1942
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Micrognat...	ORPHA:79474
Costello Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Abnormal dental enamel morphology, ...	ORPHA:3071
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Sweeney-Cox Syndrome	Uplifted earlobe, Micrognathia, Asplenia, Polyhydramnios, High palate, Narrow chest, Short philtr...	OMIM:617746
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Cervical kyphosis, Generalized joint laxity, Protruding ear, Abnormal ster...	ORPHA:2953
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Micrognathia, Abnormal rib mo...	ORPHA:3301
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Abnormal bleeding, Back pain, Peripheral arteriovenous fi...	ORPHA:90307
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Downturned corners of m...	ORPHA:2215
Noonan Syndrome 2	Polyhydramnios, Micrognathia, Short neck, Pectus carinatum, Abnormal sternum morphology, High pal...	OMIM:605275
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/...	OMIM:276820
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Torticollis, Broad hallux, Ventricular septal def...	ORPHA:276432
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon...	OMIM:619736
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Broad nasal tip, Flexion contracture, Recurrent upper respiratory tract in...	ORPHA:391372
Chromosome 3Pter-P25 Deletion Syndrome	Prominent metopic ridge, Small for gestational age, Overlapping toe, Postaxial polydactyly, Micro...	OMIM:613792
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Slender build, Cachexia, Weight loss	OMIM:613662
Witteveen-Kolk Syndrome	Glue ear, Proximal placement of thumb, Uplifted earlobe, Congenital diaphragmatic hernia, High, n...	OMIM:613406
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Chromosome 17Q12 Duplication Syndrome	Facial hypotonia, Micrognathia, Broad thumb, Microphthalmia, Triangular face, Brachydactyly	OMIM:614526
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Obesity, Microphthalmia, Jo...	OMIM:619185
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Abetalipoproteinemia	CNS demyelination, Peripheral demyelination	OMIM:200100
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Elevated hepatic transaminase, Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stip...	OMIM:277450
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A...	ORPHA:52430
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Facial asymmetry, Joint stiffness, Micrognathia, Hype...	ORPHA:1323
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, CNS demyelination, Peripheral demyelination, EEG ...	ORPHA:206448
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Malar flattening, Short nose, Retrognathia, Broad nasal tip	OMIM:613670
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Bowing of the long bones, Crumpled long b...	ORPHA:2050
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
7Q31 Microdeletion Syndrome	Atrial septal defect, Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Prominent nose, Hyp...	ORPHA:251061
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Microcephaly, Micrognathia, Small hand, Short foot, Short palm, Microphtha...	OMIM:241410
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morp...	ORPHA:53719
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Flexion contracture, Abnormality of the palpebral fissures, Arthrogryposis multiplex congenita, I...	ORPHA:178148
Congenital Atransferrinemia	Arthritis, Anemia	ORPHA:1195
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Anteverted nares, Protruding tongue, Short neck, Patent ductus arterio...	OMIM:612938
Stevenson-Carey Syndrome	Hip dysplasia, Scoliosis, Camptodactyly, Microphthalmia, Joint contracture of the hand	OMIM:611961
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Raine Syndrome	Mandibular prognathia, Micromelia, Short neck, Micrognathia, Choanal stenosis, Neonatal death, Lo...	OMIM:259775
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Recurrent fractures, Micromelia, Ab...	ORPHA:2772
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, Cupped ear, 2-3 toe syndactyly, Small thenar emi...	OMIM:618914
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital muscular torticollis, Congenital hip dislocation, Bicuspid a...	ORPHA:457279
Trigonocephaly 1	Craniosynostosis, Wide nasal bridge, Lumbar hemivertebrae, Metopic synostosis, Short nose	OMIM:190440
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Flexion contracture, Talipes equinovarus, Scoliosis, Macrocephaly, Limb underg...	OMIM:619124
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt...	OMIM:619339
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Death in infancy, Thickened ribs, Abnormal heart valve...	OMIM:230500
Pallister-Hall Syndrome	Hemivertebrae, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of li...	OMIM:146510
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Rocker bottom foot, Delayed eruption of permanent teeth, Clinodactyly of the 5t...	OMIM:618506
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Sclerosteosis 1	Large face, Syndactyly, Facial palsy, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy sec...	OMIM:269500
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o...	ORPHA:3097
Seckel Syndrome 2	Small for gestational age, Micrognathia, Microcephaly, Clinodactyly of the 5th finger, Microphtha...	OMIM:606744
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Depressed na...	ORPHA:2863
Microphthalmia, Syndromic 8	Microphthalmia, Split foot, Microcephaly	OMIM:601349
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic ...	ORPHA:373
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity...	ORPHA:90103
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Scapular winging, Depressed nasal bridge, Hyperlordosis, W...	ORPHA:26791
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, Vertebral segmentati...	ORPHA:453499
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
20Q13.33 Microdeletion Syndrome	Hallux valgus, Pes planus, Triangular face, Small for gestational age, Failure to thrive in infan...	ORPHA:261311
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Tricuspid regurgitation, Supraventricular tachycardia with an accessory co...	ORPHA:404443
Autosomal Recessive Malignant Osteopetrosis	Apnea, Reduced bone mineral density, Narrow chest, Otitis media, Hepatomegaly, Pulmonary artery s...	ORPHA:667
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased number of pe...	OMIM:302800
Sapho Syndrome	Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s...	ORPHA:793
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou...	OMIM:601344
Telangiectasia, Hereditary Benign	Diffuse telangiectasia, Vascular dilatation	OMIM:187260
Keutel Syndrome	Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary artery hypoplasia, Emphys...	OMIM:245150
Triploidy	Polyhydramnios, Micrognathia, Short neck, Narrow chest, Holoprosencephaly, Decreased skull ossifi...	ORPHA:3376
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Tracheomalacia, Microgn...	ORPHA:513456
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Transient ischemic attack, Vertigo, Intracranial hemorrhage, Stroke	ORPHA:140989
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Flexion contracture,...	OMIM:617591
Temtamy Syndrome	Long face, Pes planus, Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Microph...	OMIM:218340
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim...	OMIM:614700
Distal Deletion 19P	Long toe, Low-set, posteriorly rotated ears, Arachnodactyly, Ventricular septal defect, Hypoplasi...	ORPHA:96129
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Short neck, Deep philtrum, Pectus carinatum, High palate, Widely spaced teeth, At...	OMIM:617506
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers	OMIM:616794
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,...	OMIM:173800
Baker-Gordon Syndrome	Joint laxity, Prominent nasal tip, Short nose, Scoliosis	OMIM:618218
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis, Hearing impairment	OMIM:178651
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa...	OMIM:312170
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension...	ORPHA:90065
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Severe Congenital Nemaline Myopathy	Facial palsy, Multiple prenatal fractures, Flexion contracture, Large fontanelles, Facial diplegi...	ORPHA:171430
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding...	ORPHA:453504
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac...	OMIM:611588
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Broad hallux, Depressed nasal bridge, Micrognathia, Short neck, Wide ant...	OMIM:614541
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Hallermann-Streiff Syndrome	Wormian bones, Small for gestational age, Abnormality of the hand, Microcephaly, Micrognathia, Hy...	OMIM:234100
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent...	ORPHA:324410
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Pectus carinatum, Short p...	ORPHA:464738
Meckel Syndrome, Type 8	Anophthalmia, Microcephaly, Polydactyly, Talipes equinovarus, Microphthalmia	OMIM:613885
Relapsing Polychondritis	Abnormal endocardium morphology, Pericarditis, Chondritis of pinna, Myocarditis, Vertigo, Sensori...	ORPHA:728
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Prominent nose, Tibial bowi...	ORPHA:453510
Aredyld Syndrome	Craniofacial hyperostosis, Cachexia, Splenomegaly, Abnormal pelvic girdle bone morphology, Scolio...	ORPHA:1133
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Conductive hearing imp...	ORPHA:3236
X Small Rings	Joint laxity, Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal...	ORPHA:96201
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydram...	OMIM:620369
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Coarctation of a...	ORPHA:2396
Williams Syndrome	Osteopenia, Periorbital edema, Abnormal form of the vertebral bodies, Protruding ear, Microdontia...	ORPHA:904
Recombinant 8 Syndrome	Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Atrial septal defect, Cli...	ORPHA:96167
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Pes planus, Flexion contracture, Hip dislocation, Elbow flexion contracture, Osteopor...	OMIM:614438
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Conduc...	ORPHA:1826
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Anteverted nares, Eczema, Depressed nasal bridge, Wide...	OMIM:600430
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers	ORPHA:101111
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Abnormality of the dentition, Sensorineural hearing impairment, Os...	ORPHA:90354
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Even-Plus Syndrome	Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Cor...	OMIM:616854
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Facial palsy, Micrognathia, Hydrocephalus, Cra...	OMIM:259720
Charcot-Marie-Tooth Disease Type 4A	Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity...	ORPHA:99948
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Achilles tendon contracture, T...	ORPHA:98863
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Arachnodactyly, Ventricular septal defect, Pectus excavatum, Pectus carinatum, Prot...	OMIM:301039
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Lowry-Maclean Syndrome	Osteopenia, Short nasal bridge, Choanal atresia, Craniosynostosis, Micrognathia, Hypoplasia of th...	ORPHA:2409
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Cleft upper lip, Micrognathia...	OMIM:612561
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers, Ptosis	OMIM:610246
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Aortic valve prolapse, Ventricular septal defect, Posteriorly rotat...	OMIM:619980
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Achilles tendon contracture, T...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Achilles tendon contracture, T...	ORPHA:98853
Geleophysic Dysplasia 1	Short palm, Osteopenia, Round face, Camptodactyly of finger, Coxa valga, Joint stiffness, Short f...	OMIM:231050
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Congenital Myopathy 24	Scapular winging, Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance	OMIM:617336
Jansen-De Vries Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated e...	OMIM:617450
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t...	ORPHA:3429
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Coffin-Siris Syndrome 4	Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,...	OMIM:614609
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Thin upper lip vermilion, Sacral dimple, Prominent nasal bridge, Increased nuchal translucency, O...	OMIM:618480
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior horn cells, Respiratory fai...	ORPHA:2254
Cebalid Syndrome	Flat face, Congenital diaphragmatic hernia	OMIM:618774
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Lateral clavicle hook, Splenomegaly, Postaxial hand poly...	OMIM:615630
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros...	OMIM:616331
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Pes planus, Elbow dislocation, Abnormal foot morphology, Osteoarthritis, Limit...	ORPHA:285
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar...	ORPHA:228190
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles...	ORPHA:206569
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Kyphosis, Short nose, Scoliosis	ORPHA:2429
Atelis Syndrome 2	Sacral dimple, Micrognathia, Diastema, Kyphosis, Patent ductus arteriosus, Thick lower lip vermil...	OMIM:620185
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Abnormal foot morphology, Splenomeg...	ORPHA:2136
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic...	ORPHA:70
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Narrow foramen obturatorium, Flexion contracture, Osteolysis	ORPHA:220393
Congenital Factor Xiii Deficiency	Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ...	ORPHA:331
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H...	OMIM:602782
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Dental cro...	OMIM:309583
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Ptosis	ORPHA:663
Aspartylglucosaminuria	Large face, Pes planus, Coarse facial features, Beaking of vertebral bodies, Abnormal morphology ...	ORPHA:93
Noonan Syndrome 8	Ventricular septal defect, Eczema, Polyhydramnios, Short neck, Patent ductus arteriosus, Pleural ...	OMIM:615355
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Coarse facial features, Ataxia, Microcephaly, Flared metaphysis, Advanced ossificat...	OMIM:610442
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Cl...	OMIM:614294
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibilit...	ORPHA:544503
Insulin-Like Growth Factor I, Resistance To	Rieger anomaly, Sandal gap, Microcephaly, Micrognathia, Small hand, Short foot, Truncal obesity, ...	OMIM:270450
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Short neck, Polyhy...	OMIM:218040
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Ohdo Syndrome, X-Linked	Coarse facial features, Ulnar deviation of the hand, Overlapping toe, Micrognathia, Short thumb, ...	OMIM:300895
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:615490
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Micrognathia, Clinodactyly, Prominent fingertip pads, Broad hallux, Cleft ...	OMIM:618529
Nance-Horan Syndrome	Microphthalmia, Short metacarpal, Long face	ORPHA:627
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Short nose, Scoliosis, Micrognathia	ORPHA:2598
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Death in infancy, Hyperlordosis, Spinal rigidity, Congestive heart failu...	ORPHA:157973
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Patellar hypoplasia, Knee flexion co...	ORPHA:477
Spastic Paraplegia Type 7	Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle weakness, Lower lim...	ORPHA:99013
17Q12 Microduplication Syndrome	Microphthalmia, Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology	ORPHA:261272
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios...	ORPHA:51608
Kleefstra Syndrome	Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Downturned corners of m...	ORPHA:261494
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Micrognathia, Pectus excavatum, Short n...	ORPHA:2522
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Kyphosis, Cleft palate, Protruding ...	OMIM:619123
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e...	OMIM:540000
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Wide nose, Anteverted nares, Down-sloping shoulders, Kyphoscoliosis, Deviation of t...	ORPHA:391408
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de...	OMIM:270100
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Microcephaly, Genu varum, Abnormal hip bone morphology, Triangular face, Facial asymmetry	ORPHA:1110
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, Abnormal heart ...	OMIM:239800
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Short neck, Generalized joint laxi...	ORPHA:251028
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Micrognathia, Short neck, Prominent nose, Partial a...	OMIM:305450
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Oligodontia, Platyspondy...	OMIM:601216
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General...	ORPHA:324604
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Cat Eye Syndrome	Micrognathia, Biliary atresia, Atrial septal defect, Patent ductus arteriosus, Total anomalous pu...	OMIM:115470
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert...	ORPHA:280
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Abnormal form of the vertebral bodies, Abnormal femoral epiphysis morphology, Tria...	ORPHA:3218
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Sterile arthrit...	OMIM:604416
Curry-Jones Syndrome	Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Facial asymmetry, Preaxial han...	OMIM:601707
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Secundum atrial septal defect, Anteverted ears, Down...	OMIM:616268
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c...	OMIM:265000
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Schuurs-Hoeijmakers Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Patent ductus arteriosus, Bulbous nose...	OMIM:615009
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar...	OMIM:620011
Holoprosencephaly	Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep philtrum, Depressed ...	ORPHA:2162
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tort...	ORPHA:2751
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Depressed nasal bridge, Edema, Short neck, Pericardial effusion, Kyphosis, Hip disl...	OMIM:608776
Rhiny	Short nose, Anteverted nares	OMIM:180360
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Vascular dilatation, Ear pain, Jaw claudication, Syncope, Brad...	ORPHA:221098
Non-Functioning Paraganglioma	Pulsatile tinnitus, Cerebral hemorrhage, Congestive heart failure, Paroxysmal vertigo, Palpitatio...	ORPHA:94080
49,Xxxxy Syndrome	Mandibular prognathia, Pulmonary embolism, Short neck, Depressed nasal ridge, Holoprosencephaly, ...	ORPHA:96264
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98855
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly,...	ORPHA:2211
Noonan Syndrome	Micrognathia, Lymphedema, Abnormality of the spleen, Pectus carinatum, Enlarged thorax, High pala...	ORPHA:648
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Optic atrophy, Hip dysplasia, Scoliosis, Short nose	OMIM:617183
Weill-Marchesani Syndrome	Ventricular septal defect, Short thumb, Limitation of joint mobility, Mitral regurgitation, Pulmo...	ORPHA:3449
Charge Syndrome	Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the ...	ORPHA:138
Leopard Syndrome 1	Mandibular prognathia, Bundle branch block, Limited elbow movement, Short neck, Depressed nasal r...	OMIM:151100
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concen...	OMIM:620300
Distal Triplication 15Q	Micrognathia, Flexion contracture, Abnormal sternum morphology, High palate, Atrial septal defect...	ORPHA:314588
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Sacral dimple, Anteverted nares, Short nose	ORPHA:531
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Micrognathia, Tapered finger, Microphthalmia	ORPHA:1438
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential, Down-sloping shoulders, Stridor, Hammertoe, Resp...	OMIM:606071
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Microcephaly, Short femur, Tapered finger	OMIM:618367
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Acne, Metatarsus adductus, Elbow dislocation, ...	ORPHA:2804
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Narrow nasal ridge, Micrognathia, Flexion contracture, Hypoplasia of te...	OMIM:608612
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl...	OMIM:605376
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Neonatal respiratory distress, Depressed nasal bridge, Optic nerve hypoplasia, Pro...	OMIM:618828
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Pyloric stenosis, ...	ORPHA:261197
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Short palm, Clinodactyly of the 5th finger, Syndactyly, ...	OMIM:252100
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Abnormal pulmonary valve morphology, Broad nasal tip, Thick lower lip v...	ORPHA:137634
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, H...	OMIM:180849
Cole-Carpenter Syndrome 1	Osteopenia, Communicating hydrocephalus, Recurrent fractures, Micrognathia, Hydrocephalus, Verteb...	OMIM:112240
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture,...	OMIM:613870
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Short neck, ...	OMIM:305400
Icf Syndrome	Abnormality of neutrophils, Micrognathia, Macroglossia, Macrocephaly, Lymphopenia, Flat face, Anemia	ORPHA:2268
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Osteopetrosis, Macroceph...	OMIM:615085
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Choanal stenosi...	ORPHA:95699
Silver-Russell Syndrome 4	Mild microcephaly, Small for gestational age, Triangular face, Decreased body weight	OMIM:618907
Trisomy 20P	Finger syndactyly, Anteverted nares, Camptodactyly of finger, Spina bifida, Short neck, Micrognat...	ORPHA:261318
Oculodentodigital Dysplasia	Selective tooth agenesis, Clinodactyly, High palate, Joint contracture of the 5th finger, Atrial ...	OMIM:164200
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial ...	ORPHA:261330
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Hearing impairment, Biconcave flattened vertebrae,...	OMIM:166200
Distal Deletion 15Q	Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyl...	ORPHA:1596
Peters Plus Syndrome	Polyhydramnios, Micrognathia, Short neck, Micromelia, Bicuspid pulmonary valve, Abnormal pulmonar...	ORPHA:709
Occipital Horn Syndrome	Joint laxity, Short humerus, Pes planus, Narrow face, Persistent open anterior fontanelle, Pelvic...	OMIM:304150
Hypertrichosis Cubiti	Rhizomelia, Prominent nasal bridge, Micromelia, Abnormality of the elbow, Joint hyperflexibility	ORPHA:2220
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Prolonged bleeding time, Lymphedema, Splenomegaly, Vertigo, Sensorineural hearing i...	ORPHA:3226
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High...	OMIM:135500
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination	OMIM:250100
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Generalized amyotrophy, Ptosis	OMIM:615084
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Short neck, High, narrow ...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Short neck, High, narrow ...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Short neck, High, narrow ...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Short neck, High, narrow ...	ORPHA:99413
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Short neck, Broad nasal tip, Cleft lip, Patent ductus arteriosus, Cupped ...	OMIM:618223
Schnitzler Syndrome	Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Flexion contracture, Adult onset sensorineural hearing impairment, Condu...	ORPHA:90324
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb...	OMIM:252940
Alg1-Cdg	Kyphosis, Respiratory failure, Limitation of joint mobility, Scoliosis	ORPHA:79327
Monosomy 13Q34	Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Micrognathia, Prominent nose, Broad ...	ORPHA:96168
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Abnormal joint morphology, Limitation of...	ORPHA:47612
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Overlapping toe, Anteverted nares, Depressed nasal bridge, Large placenta...	ORPHA:254528
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Short thumb, Wide n...	ORPHA:401935
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Tyshchenko Syndrome	Ventricular septal defect, Posteriorly rotated ears, Polyhydramnios, Pectus excavatum, High, narr...	OMIM:615102
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture...	OMIM:202400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me...	OMIM:618476
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Onion bulb formation, Leukodystrophy, CNS hypomyelination	OMIM:610532
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
8P Inverted Duplication/Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Clinodactyl...	ORPHA:96092
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Anteverted nares, Micrognathia, Patent ductus arteriosus, Abnormal cardiac...	ORPHA:2306
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Lower limb hyper...	ORPHA:319514
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive...	ORPHA:794
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Wide cranial sutures, Micrognat...	OMIM:601390
Cardiofaciocutaneous Syndrome	Short neck, Lymphedema, High palate, Thickened helices, Atrial septal defect, Low-set, posteriorl...	ORPHA:1340
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Persistent open anterior fontanelle, Arachnodactyly, Bilateral talipes equinovarus,...	OMIM:615539
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thor...	ORPHA:1797
Branchiootic Syndrome	Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma...	ORPHA:52429
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Protruding e...	ORPHA:3041
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal ...	ORPHA:1295
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Pectus excavatum, Conduc...	ORPHA:1131
Smith-Lemli-Opitz Syndrome	Dental crowding, Proximal placement of thumb, Micrognathia, Micromelia, 2-3 toe cutaneous syndact...	OMIM:270400
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Cartilage destruction, Myoc...	ORPHA:829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Cleft palate, Cleft upper lip	ORPHA:398189
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Coxa valga, Micrognathia, Hydrocephalus, Optic atrophy, Hammertoe, Distal...	OMIM:619833
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d...	ORPHA:861
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Abnormality of the elb...	ORPHA:98878
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna...	OMIM:619879
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Thoracic dysplasia, Narrow chest, Hepat...	OMIM:263520
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Kyphosis, Hip dysplasia, Incre...	ORPHA:261250
Clark-Baraitser Syndrome	Depressed nasal bridge, Sandal gap, Anteverted nares, Clinodactyly, Short nose, Low hanging colum...	OMIM:617752
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Abnormality of the vertebral spinous processes, Thoracolumbar k...	ORPHA:1299
Schimke Immuno-Osseous Dysplasia	Short neck, Microdontia, Intrauterine growth retardation, Lumbar hyperlordosis, Depressed nasal b...	ORPHA:1830
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Intestinal...	OMIM:616201
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Achilles tendon...	OMIM:310200
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Onion bulb formation	OMIM:614455
Skin Creases, Congenital Symmetric Circumferential, 2	Pes planus, Tapered finger, Microcephaly, Long fingers, Micrognathia, 2-3 toe syndactyly, Short p...	OMIM:616734
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Short neck, Kyphosis, Small hand, Large fonta...	ORPHA:238750
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Pectus excava...	ORPHA:555877
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Atrial septal defect, Conductive hearing impairment...	OMIM:257920
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Prolonged bleeding time, Abnormal thorax morphology, Pulmonic ...	ORPHA:638
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, High, narrow palate, Protruding ear, High palate, Narrow chest, Widely spa...	OMIM:218330
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Oral ulcer, Pectus carinatum, High palate, Otitis media, Hepatomeg...	OMIM:612541
22Q11.2 Deletion Syndrome	Polyhydramnios, Micrognathia, Short neck, Abnormal aortic arch morphology, Short philtrum, Atrial...	ORPHA:567
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin...	OMIM:309620
Squalene Synthase Deficiency	Bicuspid aortic valve, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Macrotia, ...	OMIM:618156
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pulmonic stenosis, Hypophosphatemic ...	OMIM:613312
Boudin-Mortier Syndrome	Long toe, Mallet finger, Joint laxity, Arachnodactyly, Pectus excavatum, Long fingers, Pseudoepip...	OMIM:619543
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Short neck, Atrial septal defect, Agenesis of corpus callosum, Anteverted nares, De...	OMIM:257300
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Mandibular prognathia, Sacral dimple, Aganglionic megacolon, Polyhydramnios, T...	OMIM:613603
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly of the 5...	OMIM:607872
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Tapered finger, Pyloric stenosis, Hip dysplasia, Talipes equinovarus, Clinodactyly of the 5th fin...	OMIM:617219
Xq12-Q13.3 Duplication Syndrome	Eczema, Microcephaly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Generalized amyotrophy, Tr...	ORPHA:314389
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Joint stiffness, Weight loss, Joint swelling, Digital ...	OMIM:180300
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:95717
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Syndactyly, Small for gestational age, Micrognathia, Short 5th finger, Pol...	ORPHA:397590
Classical Ehlers-Danlos Syndrome	Osteopenia, Pes planus, Phalangeal dislocation, Abnormal foot morphology, Osteoarthritis, General...	ORPHA:287
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Ayme-Gripp Syndrome	Pericarditis, Tapered finger, Radioulnar synostosis, Camptodactyly, Craniofacial asymmetry, Flat ...	OMIM:601088
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail...	ORPHA:99901
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Ventricular septal defect, Facial hypotonia, Short neck,...	ORPHA:85194
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Microcephaly, Dysmetria, Truncal obesity, Dysdiadochokinesis, Gait dist...	OMIM:616541
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atr...	OMIM:300166
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Polyhydramnios...	OMIM:612562
Sotos Syndrome	Joint laxity, Pes planus, Narrow face, Long metacarpals, Increased body weight, Genu valgum, Long...	OMIM:117550
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Cholest...	OMIM:615415
Incontinentia Pigmenti	Finger syndactyly, Skin rash, Camptodactyly of finger, Eosinophilia, Keratitis, Abnormal hand mor...	ORPHA:464
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Short Syndrome	Joint laxity, Enlarged epiphyses, Rieger anomaly, Small for gestational age, Micrognathia, Slende...	OMIM:269880
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Atrial septal defect, Cl...	OMIM:194050
Alkaptonuria	Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Coronary artery calcifi...	OMIM:203500
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Death in infancy, Rocker bottom foot, Polyhydramnios, Tapered finger, Carious teeth, Micrognathia...	OMIM:620070
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Dislocated radial head	ORPHA:2975
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly	OMIM:611561
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu...	ORPHA:2414
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ...	OMIM:608647
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Polyhydra...	ORPHA:818
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:1053
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Round face, Micrognathia, Keratitis, Conjunctivitis, Recurrent otitis media, Flat face	OMIM:602562
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Palpebral edema, Micrognathia, Metatarsus a...	OMIM:214110
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Congenital diaphragmatic hernia, Missing ribs, Micrognathia, Abnormality...	ORPHA:1834
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, High, narrow palate, Abnormal finger morphology, Glossoptosis, Abnormality of front...	ORPHA:436003
Coccidioidomycosis	Broad skull, Abnormality of the spleen, Abnormal long bone morphology, Morbilliform rash, Broad r...	ORPHA:228123
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,...	ORPHA:974
Noonan Syndrome 6	Depressed nasal bridge, Edema, Short neck, Pectus excavatum, Polyhydramnios, Sensorineural hearin...	OMIM:613224
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Infantile sensorineural hearing impairment...	ORPHA:3129
48,Xxxy Syndrome	Mandibular prognathia, Pulmonary embolism, Short neck, Depressed nasal ridge, Clinodactyly of the...	ORPHA:96263
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Otitis media, Chronic ot...	ORPHA:906
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Bronchiectasis, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Double...	OMIM:618254
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Micrognathia, Neonatal death, Atrial septal defect, Diaphragmati...	OMIM:601186
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Finger syndactyly, Occipital encephalocele, Abnormal intervert...	ORPHA:887
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to...	OMIM:259410
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Depressed nasal bridge, Death in infancy	OMIM:614862
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Fa...	OMIM:601457
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl...	OMIM:616580
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micrognathia, Short neck, High, narrow palate, Congenital diaphragma...	OMIM:122470
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Edema, Polyhydramnios, Short philtrum, Abnormal bone o...	ORPHA:79324
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Anence...	OMIM:313850
Congenital Varicella Syndrome	Microphthalmia, Micromelia, Microcephaly	ORPHA:291
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Microcephaly, Short foot, Joint hyperflexibility, Hand poly...	ORPHA:250989
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Narrow chest, Atrial sept...	ORPHA:280633
Gm1-Gangliosidosis, Type Iii	Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo...	OMIM:230650
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Congenital muscular torticollis, Anophthalmia, Aplastic clavic...	ORPHA:2538
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Large for gestational age	ORPHA:2432
Van Maldergem Syndrome 2	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl...	OMIM:615546
Maternal Uniparental Disomy Of Chromosome 6	Slender long bone, Eczema, Triangular face, Thrombocytopenia	ORPHA:96181
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Noonan Syndrome 1	Micrognathia, Short neck, High, narrow palate, Lymphedema, Abnormal sternum morphology, High pala...	OMIM:163950
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Microcephaly, Hyperlordosis, Kyphosis, Abnormal shoul...	ORPHA:568
Branchial Arch Syndrome, X-Linked	High, narrow palate, Protruding ear, High palate, Low-set ears, Pulmonic stenosis, Hearing impair...	OMIM:301950
Coffin-Siris Syndrome 6	Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Broad nasal tip, Wormian bones, Clinodactyl...	OMIM:617808
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Kyphosis, Skeletal muscle hypertrophy, Gait disturbance, Scoliosis, Pes cavus	ORPHA:99014
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus to...	ORPHA:1666
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Abnormal left ventricular function, Cholecystitis, Morbilliform ...	ORPHA:99827
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th...	ORPHA:1234
Combined Oxidative Phosphorylation Deficiency 47	Short palm, Hepatomegaly, Elevated hepatic transaminase, Toe syndactyly, Posteriorly rotated ears...	OMIM:618958
Digeorge Syndrome	Micrognathia, High, narrow palate, High palate, Short philtrum, Hepatic steatosis, Bifid uvula, A...	OMIM:188400
Bresek Syndrome	Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Hemivertebrae, Scoliosis, Micro...	ORPHA:85284
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, Abnormal curvature of the v...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, Abnormal curvature of the v...	ORPHA:353277
Gaucher Disease	Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Ataxia, Recurrent f...	ORPHA:355
Oculodentodigital Dysplasia, Autosomal Recessive	Wide cranial sutures, Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognathia, 4...	OMIM:257850
Maternally-Inherited Diabetes And Deafness	Malabsorption, Congestive heart failure, Sensorineural hearing impairment, Hypertension, Arrhythm...	ORPHA:225
Lowry-Wood Syndrome	Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Coxa vara, Irregular epiphyses, Platysp...	ORPHA:1824
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Pectus ex...	OMIM:618348
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Scoliosis, Pulmonic stenosis, Facial telangiectasia, Contracture of the proxima...	OMIM:620141
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury...	OMIM:608654
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Episodic tachypnea, Micrognathia, Hydrocephalus, Apneic episodes in infancy, Sh...	ORPHA:163961
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met...	ORPHA:99646
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Pectus excavatum, Chronic ...	OMIM:619825
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory...	OMIM:265120
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,...	OMIM:619356
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly, ...	OMIM:600901
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivert...	ORPHA:958
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Ring Chromosome 7 Syndrome	Single transverse palmar crease, Microcephaly, Prominent crus of helix, Small hand, Genu valgum, ...	ORPHA:1449
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Conductive hearing impair...	OMIM:157800
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat...	ORPHA:563
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Craniosynostosis, Wide anterior fontanel, Wormian bones, Malar flattening, Shor...	OMIM:601853
Mosaic Trisomy 8	Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches...	ORPHA:96061
Chromosome 1Q41-Q42 Deletion Syndrome	Coarse facial features, Sandal gap, Congenital diaphragmatic hernia, Microcephaly, 3-4 finger cut...	OMIM:612530
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners...	OMIM:617140
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Intestinal malrotation, Ventricular septal defect, Hypoplastic philtrum, Hiatus ...	OMIM:616682
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Meier-Gorlin Syndrome 7	Bowing of the legs, Heart block, Anteriorly placed anus, Vertebral segmentation defect, High pala...	OMIM:617063
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Cachexia, Ragged-red muscle fib...	ORPHA:298
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy...	OMIM:615745
Smith-Magenis Syndrome	Mandibular prognathia, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Delayed eruption...	ORPHA:819
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili...	ORPHA:231
15q26 overgrowth syndrome	Long toe, Long face, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, A...	DECIPHER:81
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Uplifted earlobe, Kyphos...	OMIM:616449
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con...	ORPHA:600
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenos...	OMIM:154400
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Otitis media,...	ORPHA:353281
Meckel Syndrome, Type 4	Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly, Microcephaly	OMIM:611134
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Coarse facial features, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance	ORPHA:2349
Hypotonia-Cystinuria Syndrome	Facial palsy, Ragged-red muscle fibers, Long eyelashes, Failure to thrive, Ptosis	OMIM:606407
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Microretrognathia, Multiple pterygia, Talipes equinovarus, Pterygium, Flat face	OMIM:177980
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness...	ORPHA:352447
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Short toe, Asthma, Cone-shaped epiphyses of the phalanges of ...	OMIM:619269
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ca...	ORPHA:3472
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Kyphoscoliosis, Micrognathia, Joint stiffness, Secondary microcephaly, Macrocephaly, ...	OMIM:618820
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Craniosynostosis, Microcephaly	ORPHA:1528
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Kyphosis, 2-3 toe syndactyly, Postaxia...	ORPHA:404440
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Micrognathia, Flexion contracture, Glossoptosis, High palate, Anteverted...	OMIM:254940
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, 3-5 toe syndactyly, Atrial septal defect, Clinodactyly of the 5th finger, ...	OMIM:300707
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Death in infancy, Hydrops fetalis...	OMIM:619433
Teebi Hypertelorism Syndrome 1	Natal tooth, Anteverted nares, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, S...	OMIM:145420
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Apnea, Micrognathia, Short nose, Delayed cranial suture closure	ORPHA:1129
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Anteverted nares, Depressed nasal bridge, Intraventricular hemorrhage, Sensorineural ...	OMIM:616430
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foo...	OMIM:607597
Noonan Syndrome 10	Ventricular septal defect, Short neck, Pectus excavatum, Cubitus valgus, Patent ductus arteriosus...	OMIM:616564
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Pancreatitis	OMIM:251000
Scimitar Syndrome	Respiratory distress, Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Coug...	ORPHA:185
Pseudo-Torch Syndrome 3	Death in infancy, Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension	OMIM:618886
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, High palate, Short philtrum, Macrovesicular hepati...	OMIM:619127
Wilson Disease	Acute hepatitis, Abnormality of the hand, Thrombocytopenia, Splenomegaly, Increased body weight, ...	ORPHA:905
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Scedosporiosis	Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Abnormal respi...	ORPHA:449280
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Coxa var...	ORPHA:2962
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Aplasia/Hypopla...	ORPHA:1794
Ferguson-Bonni Neurodevelopmental Syndrome	Coronary-pulmonary artery fistula, Micrognathia, Pectus excavatum, Congenital diaphragmatic herni...	OMIM:619699
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Polyhydramnios, Aplasia of the epiglottis, Narrow chest, Atrioventricular c...	OMIM:617088
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ...	OMIM:227500
Ohdo Syndrome	Joint laxity, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Hypoplas...	OMIM:249620
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Pruritus, C...	ORPHA:99828
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve...	OMIM:162400
Myasthenia, Limb-Girdle, Autoimmune	Fatigable weakness, Ptosis, Type 2 muscle fiber atrophy, Proximal amyotrophy	OMIM:159400
Silver-Russell Syndrome 5	Relative macrocephaly, Small for gestational age, Triangular face	OMIM:618908
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Osteopenia, Bicuspid aortic valve, Cerebral arterioveno...	OMIM:150230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Osteoporosis, Ankle...	OMIM:615398
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Scoliosis, Right unilambdoid synostosis, Spina ...	OMIM:616602
Monosomy 18P	Kyphoscoliosis, Microcephaly, Micrognathia, Microphthalmia, Brachydactyly	ORPHA:1598
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Failure to thrive, Microcephaly	OMIM:274270
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Rere-Related Neurodevelopmental Syndrome	Micrognathia, Hip dysplasia, Scoliosis, Microphthalmia, Abnormal facial shape	ORPHA:494344
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Short neck, Underdeveloped nasal a...	ORPHA:2083
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers	OMIM:618416
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Ventricular septal defect, Partial agenesis of the corpus callosum...	ORPHA:79243
Meckel Syndrome, Type 2	Microphthalmia, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly	OMIM:603194
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Small for gestational age, Enlarged joints, Br...	ORPHA:2044
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist...	ORPHA:90308
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Talipes equinovarus	OMIM:614209
Mosaic Variegated Aneuploidy Syndrome 2	Small for gestational age, Rhizomelia, Craniosynostosis, Microcephaly, Micrognathia, Single trans...	OMIM:614114
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly, ...	OMIM:227650
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Neonatal Marfan Syndrome	Micrognathia, High, narrow palate, Flexion contracture, Pectus carinatum, Enlarged thorax, Emphys...	ORPHA:284979
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Joint stiffness, Splenomegaly, Recurrent upper respir...	OMIM:252920
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Conductive hearing impairment, Pathologic fracture, Prematu...	OMIM:174810
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Highly arched e...	OMIM:619173
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Thickened ribs, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract in...	OMIM:252900
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ...	ORPHA:494424
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Hyd...	OMIM:617822
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Co...	ORPHA:2038
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ...	ORPHA:79282
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Atrial...	ORPHA:2745
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Inability to walk, Gait disturbance, Difficulty walking, Scol...	OMIM:618571
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Short neck, Polyhydram...	ORPHA:2059
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Prominent metopic ridge, Depressed nasal bridge, Anteverte...	ORPHA:314655
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl...	OMIM:614091
Bainbridge-Ropers Syndrome	Death in infancy, Ulnar deviation of the hand, Arachnodactyly, Prominent nasal bridge, Anteverted...	OMIM:615485
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Sandal gap, Depressed na...	ORPHA:79322
Cockayne Syndrome B	Small for gestational age, Ataxia, Microcephaly, Splenomegaly, Kyphosis, Limitation of joint mobi...	OMIM:133540
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Trisomy 18	Microretrognathia, Narrow face, Camptodactyly of finger, Cachexia, Microcephaly, Congenital diaph...	ORPHA:3380
Fanconi Anemia, Complementation Group F	Pneumonia, Absent thumb, Microcephaly, Short thumb, Thrombocytopenia, Hypoplasia of the radius, 2...	OMIM:603467
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Prolonged bleeding time, Joint dislocation, Depressed nasal bridge, Osteomalacia, Cox...	ORPHA:1901
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Absent radius, Micrognathi...	ORPHA:1352
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Noonan Syndrome 3	Polyhydramnios, Pectus carinatum, High palate, Thickened helices, Left unilambdoid synostosis, At...	OMIM:609942
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br...	ORPHA:93260
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abn...	ORPHA:2319
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Micrognathi...	ORPHA:2879
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Pes planus, Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, Kyphoscoliosis,...	ORPHA:457359
Activated Pi3K-Delta Syndrome	Pneumonia, Microcephaly, Splenomegaly, Bronchiectasis, Arthritis, B lymphocytopenia, Recurrent ot...	ORPHA:397596
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Hemophilia A	Osteoarthritis, Joint hemorrhage, Muscle hemorrhage	OMIM:306700
Sydenham Chorea	Septic arthritis, Unsteady gait, Endocarditis	ORPHA:306731
Spastic Paraplegia 9A, Autosomal Dominant	Spastic gait, Gait ataxia, Abnormal pelvic girdle bone morphology, Gait disturbance, Generalized ...	OMIM:601162
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Polyhydramnios, Micrognathia, Micromelia, Flexion contractur...	ORPHA:2671
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Recurrent upper resp...	OMIM:252930
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, Bronchiectasis, B lymphocytopenia, Reduced n...	OMIM:241600
Familial Afibrinogenemia	Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding	ORPHA:98880
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Abnormal tibia morphology, Protruding ear, High palate, Atrial septal de...	ORPHA:363700
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Relative macrocephaly, Syndactyly, Decreased muscle mass, Narrow joint spaces of the elbow, Small...	ORPHA:96182
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytop...	OMIM:301078
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Acquired Purpura Fulminans	Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic f...	ORPHA:49566
Spondyloocular Syndrome	Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Duodenal ulcer, Abnormalit...	OMIM:605822
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Bilateral ptosis, Ragged-red muscle fibers, Lower limb muscle weakness, ...	OMIM:616479
Wilson Disease	Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Atypical or prolonged hepatitis...	OMIM:277900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp...	OMIM:614299
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy...	OMIM:616198
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ...	ORPHA:85451
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Anemia, Cortical th...	ORPHA:93325
Congenital Generalized Lipodystrophy	Long foot, Bone cyst, Skeletal muscle hypertrophy, Macroglossia, Large hands, Abnormal facial sha...	ORPHA:528
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Bell-shaped thorax, Atri...	OMIM:614857
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Micrognathia, Inability to walk, Flexion contracture, Hip disloc...	OMIM:618651
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Optic atrophy, Respiratory failure, ...	ORPHA:2707
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Respiratory distress, Micrognathia, Optic atrophy, Dental malocclusion, Contractures ...	ORPHA:329178
Acrocardiofacial Syndrome	Joint dislocation, Atrial septal defect, Finger syndactyly, Death in infancy, Cleft upper lip, Sp...	ORPHA:2008
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Failure to thrive, Flexion contracture	OMIM:620240
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Bilateral single transverse palmar creases, Camptodactyly of finger, Microcephaly, Tapered finger...	ORPHA:1236
Nance-Horan Syndrome	Narrow face, Broad finger, Microphthalmia, Short phalanx of finger, Long face	OMIM:302350
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Intrauterine...	ORPHA:2643
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ...	ORPHA:324636
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers	ORPHA:477774
Mend Syndrome	Micrognathia, High palate, Abnormal nasal bridge morphology, Broad hallux, Asymmetry of the mouth...	ORPHA:401973
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Condu...	ORPHA:444077
Distal Duplication 17Q	Micrognathia, Pectus carinatum, Protruding ear, High palate, Short philtrum, Accessory spleen, Lo...	ORPHA:3379
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplas...	OMIM:616367
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Warburg Micro Syndrome 2	Overlapping toe, Microcephaly, Flexion contracture, Secondary microcephaly, Microphthalmia, Clino...	OMIM:614225
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Kapur-Toriello Syndrome	Camptodactyly of finger, Single transverse palmar crease, Short thumb, Scoliosis, Microphthalmia,...	OMIM:244300
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Short neck, Pect...	ORPHA:77301
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Pes planus, Arachnodactyly, Large for gestational age, Hyperlordosis, Kyphosis, Gai...	OMIM:617011
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Lissencephaly 8	Microphthalmia, Skeletal muscle atrophy, Talipes equinovarus, Microcephaly	OMIM:617255
Tarp Syndrome	Apnea, Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe, Low-set, posteriorly rota...	ORPHA:2886
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Fra...	ORPHA:496641
Infantile Refsum Disease	Hepatomegaly, Facial palsy, Sensorineural hearing impairment, Cardiomyopathy, Abnormal epiphysis ...	ORPHA:772
Menke-Hennekam Syndrome 1	Square face, Overlapping toe, Broad hallux, Sandal gap, Micrognathia, Flexion contracture, Cutane...	OMIM:618332
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Gait disturbance, Pes cavus, Triangular face, Ataxia	ORPHA:1174
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe...	ORPHA:3201
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Downturned corners of ...	OMIM:239300
Caffey Disease	Respiratory insufficiency, Periosteal thickening of long tubular bones, Cortical thickening of lo...	ORPHA:1310
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis, Dehydration	ORPHA:79159
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Reduced number o...	ORPHA:79284
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Joint stiffness, Pulmonic stenosis, Brachydactyly	OMIM:614819
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma...	ORPHA:168563
Stüve-Wiedemann Syndrome	Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K...	ORPHA:3206
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic a...	OMIM:614846
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Arachnodactyly, Abnormality of neutrophils, Reduced bone mineral density, Abnormal hip bo...	ORPHA:2720
Peho Syndrome	Optic atrophy, Peripheral dysmyelination, Hypsarrhythmia	OMIM:260565
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Intellectual Developmental Disorder, X-Linked 106	Thin upper lip vermilion, Bicuspid aortic valve, Thick vermilion border, Low-set ears, Clinodacty...	OMIM:300997
Cardiofaciocutaneous Syndrome 4	Joint laxity, Polyhydramnios, Pectus excavatum, Ventricular septal hypertrophy, Abnormal aortic v...	OMIM:615280
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda...	ORPHA:139471
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c...	OMIM:178110
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis, Pes cavus, Spastic gait	ORPHA:320365
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Clin...	OMIM:618454
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eczema, Subarachnoid hemorrhage, Eosinophilic infiltration of the esophagus,...	OMIM:243700
Perlman Syndrome	Anteverted nares, Micrognathia, Wide nasal bridge, Short nose, Retrognathia	ORPHA:2849
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Triangular face, Palmoplantar hyperker...	OMIM:225060
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Dislocated radial head, Joint laxit...	OMIM:102500
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Dominant Beta-Thalassemia	Bowing of the long bones, Depressed nasal bridge, Hypoplasia of the musculature, Abnormality of t...	ORPHA:231226
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Down...	OMIM:194190
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ...	OMIM:115197
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Triphalangeal ...	ORPHA:84
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge	ORPHA:438178
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphrag...	ORPHA:2847
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Congenital hip dislocation, Ankle flexion contracture, Hyperlordosis, Kyphoscoli...	ORPHA:2020
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t...	ORPHA:774
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Osteopenia, Short lingual frenulum, Partial anosmia, Anomalous origin of le...	ORPHA:2326
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Depressed nasal bridge, Long nose, Hydrocephalus, Optic atrophy, Slender long bone, S...	OMIM:618590
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Depressed nasal bridge, Tapered finger, Micrognathia, Kyphosis, Bulbous nose, 2-3 toe...	OMIM:617061
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia	ORPHA:2582
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur...	OMIM:263000
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Conical incisor, Narrow chest, Atrial septal defect,...	ORPHA:289
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Art...	OMIM:602390
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Hip dysplasia, Scolio...	ORPHA:496790
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema...	ORPHA:79
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613435
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Bilateral ptosis, Rhabdomyolysis, Myopathy, Increased intramyocellular l...	OMIM:255125
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Narrow nasal ridge, Hip dislocation, Large font...	OMIM:219150
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ...	OMIM:615382
Hennekam-Beemer Syndrome	Camptodactyly of finger, Pneumonia, Micrognathia, Microcephaly, Lower limb asymmetry, Mastocytosi...	ORPHA:2135
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac...	OMIM:615981
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Zika Virus Disease	Maculopapular exanthema, Ankle swelling, Skin rash, Microcephaly, Wrist swelling, Optic disc hypo...	ORPHA:448237
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Micrognathia, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating as...	OMIM:614921
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak...	OMIM:157640
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Abnormal pinna morphology, Choanal atresia, Short neck, Pectus excavat...	ORPHA:52055
Kbg Syndrome	Syndactyly, Vertebral fusion, Round face, Single transverse palmar crease, Microcephaly, Rib fusi...	OMIM:148050
Walker-Warburg Syndrome	Skeletal muscle atrophy, Anophthalmia, Microcephaly, Muscular dystrophy, Macrocephaly, Metatarsus...	ORPHA:899
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Square face, Short metacarpal, Round face, Micrognathia, Camptodactyly, Microphthalmi...	OMIM:614230
Optic Atrophy 11	Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Increased variability in muscle fiber dia...	OMIM:617302
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Micrognathia, Short neck, Lymphedema, Protein-losing enteropathy, High palate, Na...	OMIM:235255
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Broad hallux, Single transverse palmar crease, Microcephaly	OMIM:614105
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Carious teeth, Small hand, Hypoplasia of the zygomatic bone...	ORPHA:1786
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the ...	ORPHA:2554
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Camptodactyly of finger, Microcephaly, Wide anterior fontanel, Hand clen...	OMIM:616920
Melioidosis	Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Caudal Regression Syndrome	Decreased muscle mass, Joint stiffness, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hyp...	ORPHA:3027
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Bicuspid aortic valve, Polyhydramnios, Short neck, Lymphedema, Deep philtrum, Finger joint hyperm...	OMIM:613563
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Nabais Sa-De Vries Syndrome, Type 2	Failure to thrive in infancy, Micrognathia, Tapered finger, Clinodactyly of the 5th finger, Trian...	OMIM:618829
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Postaxial hand polydactyly, Non-midline ...	ORPHA:2075
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Coarse facial features, Eczema, Thrombocytopenia, Reticulocytope...	ORPHA:508542
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Round face, Camptodactyly of finger, Eczema, Micrognathia, Abnormal metacarpal...	ORPHA:284160
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Coarse facial features, Microcephaly, Symphalangism affecting the phalanges of the hand, Bipariet...	ORPHA:1292
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage, Pedal edema	ORPHA:84090
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Anterior rib ...	OMIM:102700
Trichohepatoenteric Syndrome 1	Villous atrophy, Polyhydramnios, Depressed nasal ridge, Hepatic fibrosis, Bifid uvula, Hepatomega...	OMIM:222470
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Facial palsy, ...	OMIM:256850
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi...	OMIM:269150
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Micrognathia, Short neck, Downturned corners of mouth, Short p...	OMIM:619297
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Microcephaly	ORPHA:2528
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Hematochezia, Protein-losing enteropathy, Vascular dilata...	OMIM:277175
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Depressed nasal bridge, Abnormality of the dentition, Secundum atrial se...	OMIM:615802
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
17P11.2 Microduplication Syndrome	Micrognathia, Microcephaly, Scoliosis, Failure to thrive, Triangular face	ORPHA:1713
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Scoliosis, Advanc...	OMIM:614753
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Abnormal internal carotid artery morphology, Cerebral artery sten...	ORPHA:97685
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Atrial septal defect, Abnormality of the alveolar ridges,...	OMIM:225500
Short Syndrome	Weight loss, Hypoplasia of the iris, Joint hyperflexibility, Short palm, Triangular face, Brachyd...	ORPHA:3163
Image Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Micromelia	ORPHA:85173
Bor Syndrome	Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ...	ORPHA:107
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned corners of mouth, Short phil...	ORPHA:500150
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Conductive hearing impa...	ORPHA:199302
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Micrognathia, Short neck, Prominent nose, Downturned corners of mouth, High...	ORPHA:177907
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen...	OMIM:616866
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
Smith-Kingsmore Syndrome	Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, Wide anterior fontanel, Umb...	OMIM:616638
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Ataxia, Cholangitis, Liver abscess, Eosinophilia, Bone cyst, Ped...	ORPHA:284
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c...	ORPHA:33364
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Arachnodactyly, Flexion contr...	ORPHA:86309
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula	OMIM:619239
Leigh Syndrome	Respiratory failure, Optic atrophy, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Abnormally ossified vertebrae, Death in infancy, Micromel...	ORPHA:1318
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Arthropathy, Cardiomegaly, Splenomegaly, Congestive ...	OMIM:235200
Eosinophilic Fasciitis	Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Muscul...	ORPHA:3165
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalize...	ORPHA:85436
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Wide nose, Duplication of thumb phalanx, Short neck, Joint stiffness, Mi...	ORPHA:2995
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Hydranencephaly, Ventricular septal defect, Trac...	ORPHA:1393
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Hepatomegaly, Diaphragmatic eventration, Ventricular septal ...	OMIM:620025
Graft Versus Host Disease	Skeletal muscle atrophy, Dupuytren contracture, Myositis, Fasciitis, Acute hepatitis, Limited elb...	ORPHA:39812
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Short neck, Tapered finger, Wide nasal bridge, Hypoplasia of teeth, Thoracic kyphos...	OMIM:620250
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Hepatomegaly, Abnormal heart valve morphology, Skin rash, Pericardial effusion...	ORPHA:36412
Intellectual Developmental Disorder, Autosomal Dominant 45	Skin rash, Arachnodactyly, Heart murmur, Pulmonic stenosis, Scoliosis	OMIM:617600
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypoplastic iliac wing,...	OMIM:263650
Grant Syndrome	Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small for gestational age, Kyphoscoliosis, Micrognathia, Short thumb,...	OMIM:268400
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Protruding ear...	OMIM:613458
Alazami Syndrome	Microcephaly, Triangular face, Scoliosis, Decreased body weight	OMIM:615071
Faciocardiomelic Syndrome	Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Cuboid-shaped vertebral bodie...	OMIM:612731
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy...	ORPHA:90068
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Clinodactyly of the 4th finger, ...	ORPHA:485405
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Microcephaly, Joint stiffness, Flexion contracture, Overlapping fingers, ...	OMIM:609069
Doors Syndrome	Respiratory distress, Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Hemiver...	ORPHA:79500
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven...	OMIM:615418
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec...	ORPHA:47
Hallermann-Streiff Syndrome	Recurrent fractures, Tracheomalacia, Microcephaly, Micrognathia, Small hand, Uveitis, Reduced bon...	ORPHA:2108
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Polyhydramnios, Postaxial polydactyly, Hydrocephalus, Vascular dilatation	OMIM:219730
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation, Spinal rigidity	OMIM:620326
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au...	OMIM:615559
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteri...	ORPHA:2519
Muscular Dystrophy, Congenital, Megaconial Type	Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy	OMIM:602541
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Hip dislocati...	OMIM:309000
Oculocerebrorenal Syndrome Of Lowe	Micrognathia, Periodontitis, Chronic otitis media, Long face, Osteomalacia, Abnormal rib morpholo...	ORPHA:534
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb...	ORPHA:3107
Pmm2-Cdg	Mandibular prognathia, Osteopenia, Respiratory distress, Multiple joint contractures, Lymphedema,...	ORPHA:79318
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Abnormal femur morphology, Atrioven...	ORPHA:324
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge	OMIM:200130
Retinitis Pigmentosa 89	Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatospl...	OMIM:618955
Congenital Myopathy 17	Diaphragmatic eventration, Overlapping toe, Failure to thrive in infancy, Tapered finger, Myopath...	OMIM:618975
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Cough, Recurrent pharyngitis, Ver...	ORPHA:397
Congenital Fibrinogen Deficiency	Splenic rupture, Clubbing of fingers, Left ventricular hypertrophy, Microphthalmia, Right ventric...	ORPHA:335
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Flexion contracture, Optic atrophy, Osteoporosis, Scoliosis, Short nose	OMIM:615851
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Maternal Phenylketonuria	Ventricular septal defect, Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Eso...	ORPHA:2209
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Ataxia, Primary microcephaly	OMIM:615771
Fg Syndrome 5	Depressed nasal bridge, Short nose, Anteverted nares, Metopic synostosis	OMIM:300581
Intellectual Developmental Disorder, Autosomal Dominant 2	Prominent fingertip pads, Cholesteatoma	OMIM:614113
Galloway-Mowat Syndrome 1	Small for gestational age, Ataxia, Microcephaly, Micrognathia, Hypoplasia of the iris, Secondary ...	OMIM:251300
Charge Syndrome	Polyhydramnios, Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Hol...	OMIM:214800
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Sensorineural ...	ORPHA:565612
Oculopharyngodistal Myopathy 1	Ptosis, Autophagic vacuoles, Facial palsy, Bilateral ptosis, Weight loss, Distal amyotrophy, Incr...	OMIM:164310
Marden-Walker Syndrome	Skeletal muscle atrophy, Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, I...	ORPHA:2461
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Joint laxity, Tricuspid regurgitation, Bicuspid aortic valve, Joint stiffne...	OMIM:314400
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ...	ORPHA:64755
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Teebi-Shaltout Syndrome	High, narrow palate, Pectus carinatum, Oligodontia, Small earlobe, Prominent palatine ridges, Cau...	OMIM:272950
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Short neck, Micrognathia, Promine...	ORPHA:363528
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Death in infancy, Meningocele	ORPHA:2481
5Q14.3 Microdeletion Syndrome	Short nose, Toe syndactyly, Anteverted nares, Optic nerve hypoplasia	ORPHA:228384
Tenorio Syndrome	Osteopenia, Mandibular prognathia, Joint laxity, Wide nose, Anteverted nares, Apnea, Hydrocephalu...	OMIM:616260
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Dextrocardia, Abnormal hemidiaphragm morphology, Micrognath...	ORPHA:2257
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Em...	ORPHA:436
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Beta-Thalassemia Major	Hepatomegaly, Bowing of the long bones, Depressed nasal bridge, Hypoplasia of the musculature, Ab...	ORPHA:231214
Immunodeficiency 61	Recurrent otitis media, Arthritis, Obesity, Recurrent sinusitis	OMIM:300310
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu...	ORPHA:2167
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, ...	ORPHA:391474
Leber Hereditary Optic Neuropathy	Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
X-Linked Intellectual Disability, Nascimento Type	Deep philtrum, Downturned corners of mouth, Patent foramen ovale, Recurrent cutaneous abscess for...	ORPHA:163956
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri...	ORPHA:33110
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:270550
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
1P36 Deletion Syndrome	Abnormality of the spleen, Depressed nasal ridge, Abnormality of the liver, Clinodactyly of the 5...	ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Long face, Skeletal muscle atrophy, Overlapping toe, Small for gestational age, Craniosynostosis,...	OMIM:309590
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long ...	OMIM:618265
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Narrow ...	OMIM:613457
Craniosynostosis 2	Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal thumb, Metopic synost...	OMIM:604757
Bohring-Opitz Syndrome	Joint dislocation, Apnea, Micrognathia, Cardiomegaly, Congenital contracture, Agenesis of corpus ...	ORPHA:97297
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Portal vein thrombosis, Hypersplenism, Splenomegaly, Esophageal varix,...	OMIM:616028
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Microcephaly, Osteoarthritis, Skeletal muscle hypertrophy, Macrocephaly, Long face	OMIM:619714
Tetrasomy 9P	Joint dislocation, Myositis, Glue ear, Dental crowding, Micrognathia, Short neck, Biliary atresia...	ORPHA:3310
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, Weakness of facial mu...	OMIM:616239
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Na...	OMIM:105650
Gapo Syndrome	Anteverted nares, Facial palsy, Delayed closure of the anterior fontanelle, Micrognathia, Delayed...	OMIM:230740
Ulbright-Hodes Syndrome	Respiratory distress, Short humerus, Short metacarpal, Depressed nasal bridge, Short neck, Microg...	ORPHA:3404
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Respiratory failure, Optic atrophy, Abnormality of somatosens...	ORPHA:98755
Geleophysic Dysplasia 2	Thin upper lip vermilion, Hepatomegaly, Tricuspid stenosis, Ovoid vertebral bodies, Joint stiffne...	OMIM:614185
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Convex nasal ridge, Abnormal fingertip morphology, Micrognat...	ORPHA:90154
Molybdenum Cofactor Deficiency, Complementation Group B	Axonal loss, Gliosis, Peripheral demyelination	OMIM:252160
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci...	OMIM:201300
Congenital Toxoplasmosis	Failure to thrive in infancy, Microcephaly, Anemia, Microphthalmia, Thrombocytopenia	ORPHA:858
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Secundum atrial septal defect, Sensorineural hearing impairment, Elevate...	OMIM:614300
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thick upper lip vermilion, Thin bony cortex, Ventricular septal defect, An...	OMIM:619727
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Sandal gap, Micrognathia, Prominent nose, Bulbous nose, Hemivertebrae, Dep...	OMIM:156200
Myotonia Permanens	Hyperlordosis, Generalized muscle hypertrophy, Limitation of joint mobility, Skeletal muscle hype...	ORPHA:99735
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Narrow pal...	ORPHA:207
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy, Ptosis	OMIM:616720
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia	OMIM:607598
Refsum Disease, Classic	Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment...	OMIM:266500
Nanophthalmos	Microphthalmia	ORPHA:35612
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, Clinodactyl...	OMIM:268305
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Abnormality of the humerus...	ORPHA:3186
Fryns Syndrome	Tented upper lip vermilion, Ectopic pancreatic tissue, Proximal placement of thumb, Short neck, P...	OMIM:229850
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Round face, Acroosteolysis of distal phalanges (feet), Micrognathia, Pancreatitis, Splenomegaly, ...	ORPHA:280365
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter, Gout	OMIM:232800
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent...	OMIM:618164
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro...	OMIM:271245
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Eczema, Single transverse...	OMIM:601358
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Joint laxity, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneur...	OMIM:617168
Congenital Aortic Valve Stenosis	Thoracic aortic aneurysm, Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Transient ischemic attack, Myocardial infarction, Pulmonary embo...	ORPHA:464343
Gapo Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Joint hyperflexibility, Abnormal pelvic gird...	ORPHA:2067
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Molybdenum Cofactor Deficiency, Complementation Group A	Axonal loss, Gliosis, Peripheral demyelination	OMIM:252150
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Combined Oxidative Phosphorylation Deficiency 53	Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Secondary microcephaly, Generalized amyo...	OMIM:619423
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Prolonged QT interval, Maculopapu...	ORPHA:398124
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash, An...	OMIM:620321
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Thin upper lip vermilion, Abnormal pinna morphology, Anteverted nares, Congenital diaphragmatic h...	OMIM:617641
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Hemifacial hypoplasia, Facial asymmetry, Microphthalmia,...	OMIM:618727
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypoplasia of the maxilla, Optic atrophy, Clinodactyly, Short distal phalanx of finger...	OMIM:614261
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Apnea, Rocker bottom foot, Micrognathia, Long fingers, P...	ORPHA:521426
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Abnormal pattern of respiration	ORPHA:833
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Down-sloping shoulders, Narrow nasal ridge, Joint stiffness, Coxa valga, Micrognathia...	OMIM:248370
Mevalonic Aciduria	Splenomegaly, Ataxia, Triangular face, Microcephaly	ORPHA:29
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Microcephaly, Myopathy, Gait disturbance, Abnormal facial shape, Triangu...	ORPHA:85329
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Micrognathia, Prominent nose, Short philtrum, Clinodactyly of th...	OMIM:301022
Insulin-Resistance Syndrome Type B	Skin rash, Abnormality of body weight, Pneumonia, Osteoarthritis, Increased body weight, Weight l...	ORPHA:2298
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co...	ORPHA:1335
Hemophilia B	Osteoarthritis, Joint hemorrhage	OMIM:306900
Orofaciodigital Syndrome Type 5	High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ...	ORPHA:2919
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Small for gestational age, Ataxia, Failure to thrive, Flat face	OMIM:614052
Peho Syndrome	Anteverted nares, Tapered finger, Hydrocephalus, Flexion contracture, Optic atrophy, Limitation o...	ORPHA:2836
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Craniofacioskeletal Syndrome	Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, B...	OMIM:300712
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis, Failure to thrive, Small for gestational age	OMIM:613217
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Tinnitus, Epistaxis	ORPHA:403
Tracheobronchopathia Osteochondroplastica	Pneumonia, Productive cough, Wheezing, Recurrent pneumonia, Upper airway obstruction, Respiratory...	ORPHA:3348
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Long hallux, Tapered finger	OMIM:619854
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Flexion contracture, Thin ribs, Decreased body weight, Micr...	OMIM:614833
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Coarctation of aorta, Anteriorly placed anus, Abnormal vertebral morphol...	ORPHA:280195
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Proximal placement of thumb, Short sternum, Secondary microcephaly, ...	OMIM:620113
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage,...	ORPHA:340
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Scarf Syndrome	Coarse facial features, Diastasis recti, Craniosynostosis, Abnormal form of the vertebral bodies,...	ORPHA:3134
Johanson-Blizzard Syndrome	Downturned corners of mouth, Anteriorly placed anus, Hepatic fibrosis, Death in childhood, Atrial...	OMIM:243800
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Small anterior font...	OMIM:617802
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Kyphosis, Bulbous nose, S...	ORPHA:261144
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat...	ORPHA:99106
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Holoprosencephaly 13, X-Linked	Micrognathia, Alobar holoprosencephaly, Aplasia of the nose, Thoracic hemivertebrae, Agenesis of ...	OMIM:301043
Hydrolethalus	Low-set, posteriorly rotated ears, Polyhydramnios, Micrognathia, Micromelia, Postaxial hand polyd...	ORPHA:2189
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Edema, Metaphyseal sclerosis, Pericardial effusio...	ORPHA:2905
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Scoliosis, Clinodactyly of the ...	OMIM:618430
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia, Craniosynostosis	OMIM:218670
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus...	ORPHA:1225
Jacobsen Syndrome	Microcephaly, Micrognathia, Missing ribs, Flexion contracture, Macular hypoplasia, Macrocephaly, ...	OMIM:147791
Jaberi-Elahi Syndrome	Depressed nasal bridge, Joint stiffness, Kyphosis, Optic atrophy, Talipes equinovarus, Scoliosis,...	OMIM:617988
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, Prominent nose, High, narrow palate, Short philtrum, Widely spaced...	OMIM:300967
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Villous atrophy, Edema, Flexion contracture, Hepatic fibrosis, Death in childhood, He...	OMIM:212065
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Torticollis, Progressive flexion contractures, Ataxia...	ORPHA:98808
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Sensorineural hearing impairment, Cardiomyopat...	OMIM:249270
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Native American Myopathy	Skeletal muscle atrophy, Bilateral ptosis, Abnormality of skeletal muscle fiber size, Congenital ...	ORPHA:168572
Desmosterolosis	Hypoplastic nasal bridge, Posteriorly rotated ears, Anteverted nares, Rhizomelia, Micrognathia, G...	OMIM:602398
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Vertigo, Hypertension, Exertional dyspnea	OMIM:133100
Waardenburg Syndrome Type 1	Mandibular prognathia, Aganglionic megacolon, Spina bifida, Underdeveloped nasal alae, Meningocel...	ORPHA:894
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Postaxial hand polydactyly, Short nose	ORPHA:1389
Donnai-Barrow Syndrome	Wide anterior fontanel, Short nose, Umbilical hernia, Depressed nasal bridge	ORPHA:2143
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Short philtrum, Joint contracture of the 5th finger, Atrial septal defect, Clinodacty...	ORPHA:363611
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Microcephaly, Tap...	OMIM:620005
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip	OMIM:615716
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abnormal ...	ORPHA:231169
Singleton-Merten Syndrome 2	Osteopenia, Aortic valve calcification, Osteolytic defects of the phalanges of the hand, Joint su...	OMIM:616298
Limb Body Wall Complex	Congenital diaphragmatic hernia, Abnormality of the liver, Cutaneous finger syndactyly, Atrial se...	ORPHA:2369
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis	ORPHA:567544
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Recurrent phary...	ORPHA:3099
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections...	OMIM:614069
Meester-Loeys Syndrome	Joint dislocation, Abnormal sternum morphology, High palate, Joint contracture, Bifid uvula, Arac...	OMIM:300989
Cirrhotic Cardiomyopathy	Cardiomegaly, Global systolic dysfunction, Abnormal bleeding, Hepatomegaly, Elevated pulmonary ar...	ORPHA:57777
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asplenia, Stroke-like epis...	OMIM:185070
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Clinodactyly of the ...	ORPHA:235
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Telangiectasia of the skin, Mala...	ORPHA:2176
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Micrognathia, Microcephaly, Osteolysis, Acute lymphoblastic leukemia, Abnormali...	ORPHA:1052
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose, Joint hypermobility	OMIM:300143
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:95716
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Atrial septal defect, Clinodactyly of the 5th finger, Advanced eruption of teeth...	ORPHA:1519
Tetrasomy 12P	Delayed eruption of teeth, Anteverted nares, Short neck, Joint hyperflexibility, Short nose	ORPHA:884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Intrauterine growth retardation, Gout, Vascular dilatation	OMIM:617056
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cleft lip, Kyp...	ORPHA:1724
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ...	OMIM:244460
Aicardi Syndrome	Block vertebrae, Missing ribs, Microcephaly, Small hand, Rib fusion, Hip dysplasia, Supernumerary...	ORPHA:50
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Anteverted na...	ORPHA:59315
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Opt...	ORPHA:370959
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Tinnitus, Epistaxis	ORPHA:404
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Fasciitis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per...	ORPHA:32960
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Coarse faci...	OMIM:303600
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Short nose, Adducted thumb	ORPHA:50810
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Facial palsy, Micrognathia, Short nose	OMIM:614744
Nablus Mask-Like Facial Syndrome	Sandal gap, Anteverted nares, Craniosynostosis, Tapered finger, Short hallux, Short neck, Hypopla...	OMIM:608156
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, Protruding ear, High palate, Atrial septal defect, E...	OMIM:601776
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Kyphosis, Optic atr...	OMIM:617527
Fetal Alcohol Syndrome	Narrow face, Congenital diaphragmatic hernia, Microcephaly, Micrognathia, Joint stiffness, Verteb...	ORPHA:1915
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Meningocele, Respiratory insufficiency, Clinodactyly...	ORPHA:2031
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Myositis, Flexion contracture, Muscle fiber atrophy, ...	ORPHA:258
Dystonia 23	Arrhythmia, Torticollis	OMIM:614860
Galloway-Mowat Syndrome 3	Arachnodactyly, Microcephaly, Micrognathia, Hip dislocation, Camptodactyly, Microphthalmia, Failu...	OMIM:617729
Kabuki Syndrome	Congenital diaphragmatic hernia, Hemivertebrae, Orofacial cleft, Protruding ear, Abnormal form of...	ORPHA:2322
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Polyhydramnios, Micrognathia, Short neck, High, narrow ...	OMIM:208150
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Pne...	ORPHA:48435
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Distichiasis, Failur...	OMIM:600462
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve, Foot joint contracture, Wide nasal bridge, Thick vermilion border, Short p...	OMIM:619641
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Failure to thrive in infancy, Microcytic anemia, Microphthalmia, Pancreatitis	OMIM:618805
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Congenital diaphragmatic hernia, Osteopathia striata, S...	OMIM:305600
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Narrow chest, Bifid uvula, Joint laxity, Anteverted nares, Wide anterior...	OMIM:607812
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta...	OMIM:118650
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Central hypoventilation, Optic atrophy, Apnea	OMIM:618233
Autosomal Spastic Paraplegia Type 58	Peripheral demyelination	ORPHA:397946
Microphthalmia, Syndromic 13	Microphthalmia, Kyphoscoliosis, Microcephaly	OMIM:300915
Stiff Skin Syndrome	Bicuspid aortic valve, Elbow flexion contracture, Limited shoulder movement, Knee flexion contrac...	OMIM:184900
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of...	ORPHA:97214
Naxos Disease	Sudden cardiac death, Cleft upper lip, Congestive heart failure, Vertigo, Cardiomyopathy, Paroxys...	ORPHA:34217
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Preaxial hand polydactyly, ...	OMIM:227646
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Broad nasal tip, Abnormal epiphysis morphology, Dimple on na...	ORPHA:1784
Presynaptic Congenital Myasthenic Syndromes	Ptosis, Congenital hip dislocation, Limb-girdle muscle weakness, Fatigable weakness, Distal amyot...	ORPHA:98914
Congenital Myasthenic Syndrome	Ptosis, Congenital hip dislocation, Limb-girdle muscle weakness, Fatigable weakness, Distal amyot...	ORPHA:590
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Chilblains, Portal...	OMIM:619487
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:615595
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pulsatile tinnitus, Cerebral hemorrhage, Congestive heart failure, Paroxysmal vertigo, Palpitatio...	ORPHA:276621
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Joint laxity, Mitral valve prolapse, Hypertension, Aortic root aneurysm, S...	ORPHA:449291
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Dy...	ORPHA:199241
Meier-Gorlin Syndrome 6	Microretrognathia, Sandal gap, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal ala...	OMIM:616835
Joubert Syndrome 2	Ataxia, Abnormal foot morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Metopic...	OMIM:608091
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Depressed nasal bridge, Hydrocepha...	ORPHA:60040
Lethal Acantholytic Erosive Disorder	Natal tooth, Abnormal pinna morphology, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyl...	ORPHA:158687
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Accessory oral frenulum, Hamart...	OMIM:616546
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Pos...	OMIM:174300
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Periodontitis, Finger joint hypermobility, Hyperm...	OMIM:130050
Symmetrical Thalamic Calcifications	Arrhythmia, Polyhydramnios, Respiratory insufficiency	ORPHA:1314
Trisomy 8Q	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Short ...	ORPHA:1752
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers	OMIM:604360
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Protruding ear, Clinodactyly of the 5th finger, Abnormality of the c...	ORPHA:464306
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial...	ORPHA:3138
Alagille Syndrome 1	Long nose, Hemivertebrae, Atrial septal defect, Hypoplasia of the ulna, Depressed nasal bridge, A...	OMIM:118450
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Hip dislocation, Fibular aplasia, Mesomelia, Short ti...	OMIM:605274
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Joint contracture, Muscular dystrophy, Scoliosis, Generalized amyotrop...	OMIM:616516
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, S...	ORPHA:75249
Dermotrichic Syndrome	Depressed nasal bridge, Aganglionic megacolon, Abnormal vertebral morphology, Short nose	ORPHA:99688
Hemochromatosis, Type 3	Arthritis, Lymphopenia, Anemia, Neutropenia	OMIM:604250
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Microphthalmia, Congenital muscular dystrophy	ORPHA:324416
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia, Micrognathia	OMIM:615524
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly	ORPHA:210548
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Polyhydramnios, Anteverted ears, Protruding ear, Atrial septal defect, Cli...	ORPHA:459070
Non-Distal Duplication 13Q	Postaxial hand polydactyly, Arachnodactyly, Short nose, Micrognathia	ORPHA:1702
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Aganglionic megacolon, Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal...	OMIM:614749
Hydrops Fetalis	Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capilla...	ORPHA:1041
Nizon-Isidor Syndrome	Pes planus, Thoracolumbar kyphosis, Long fingers, Prominent fingertip pads, Triangular face	OMIM:618872
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Respiratory distress, Aplasia/Hypoplasia involving the nose, P...	ORPHA:990
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Tetrasomy 18P	Large hands, Short nose, Scoliosis	ORPHA:3307
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Short neck, Microgna...	OMIM:300868
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Atrial se...	ORPHA:261323
Nasopalpebral Lipoma-Coloboma Syndrome	Microcephaly, Abnormality of cartilage of external ear, Bilateral microphthalmos, Clinodactyly of...	ORPHA:2399
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal pinna morphology, Protruding ear...	OMIM:615471
Isovaleric Acidemia	Cerebellar hemorrhage, Dehydration	OMIM:243500
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Exaggerated cupid's bow, Bicuspid aortic valve, Tapered finger, Micrognathia, Bulbous ...	OMIM:614501
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, Cleft hard palat...	ORPHA:261537
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Respiratory distress, Congenital hip dislocation, Prominent nose, Abnormal periodonti...	ORPHA:480880
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Rippling Muscle Disease 2	Skeletal muscle hypertrophy, Calf muscle hypertrophy	OMIM:606072
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ptosis	OMIM:609286
Chopra-Amiel-Gordon Syndrome	Microcephaly, Scoliosis, Macrocephaly, Triangular face, Joint hypermobility	OMIM:619504
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Tracheoesophag...	ORPHA:93941
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Bicuspid aortic valve, Low hanging columella, Hemivertebrae, Anal atresia, Simple ear	OMIM:619318
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomegaly, Arthriti...	OMIM:607115
Muscle Hypertrophy	Skeletal muscle hypertrophy	OMIM:614160
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Polyhydramnios, Micrognathi...	OMIM:216340
Monosomy 9P	Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Anotia, H...	ORPHA:261112
Phosphoribosylpyrophosphate Synthetase Superactivity	Sensorineural hearing impairment, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhy...	ORPHA:3222
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Cerebral Visual Impairment	Intracranial hemorrhage, Hydrocephalus, Ischemic stroke	ORPHA:447788
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Micrognathia, Biliary hyperplasia, Choanal stenosis, Pancreatic hypoplasia,...	ORPHA:83617
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, High palate, Patent foramen ovale, Simple ear, Joint laxity, Anteve...	OMIM:619325
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Ptosis	OMIM:619424
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617405
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Clinodactyly, Short nose	OMIM:618087
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, Cleft hard palat...	ORPHA:261552
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Cutaneous finger syndactyly, Tr...	OMIM:606851
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Micrognathia, Underdevel...	OMIM:619005
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi...	OMIM:301044
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis	OMIM:611762
Potocki-Lupski Syndrome	Small for gestational age, Micrognathia, Microcephaly, Scoliosis, Failure to thrive, Triangular face	OMIM:610883
Floating-Harbor Syndrome	Joint laxity, 11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Dubowitz Syndrome	Syndactyly, Pes planus, Aplastic anemia, Eczema, Single transverse palmar crease, Micrognathia, M...	OMIM:223370
Morquio Syndrome C	Platyspondyly	OMIM:252300
Trisomy 10P	Thumb contracture, Wide cranial sutures, Anteverted nares, Depressed nasal bridge, Abnormal audit...	ORPHA:171929
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Dis...	ORPHA:42
Pfapa Syndrome	Splenomegaly, Arthritis, Infectious encephalitis, Weight loss	ORPHA:42642
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Hyperextensible hand j...	OMIM:227330
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of ...	ORPHA:85165
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Delayed cranial suture closure, Severe generalized osteoporosis, Kyphoscoliosis,...	OMIM:210730
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars...	ORPHA:85199
Alagille Syndrome 2	Long nose, Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal...	OMIM:610205
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Ptosis	ORPHA:70595
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microcephaly, Flexion contracture, Muscular dystrophy, Scoliosis, Microph...	OMIM:615249
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Simosa Craniofacial Syndrome	Flat face, Long face	OMIM:182150
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Cerebral ischemia, Budd-Chiari sy...	OMIM:263300
3-Hydroxyisobutyric Aciduria	Micrognathia, Triangular face, Microcephaly	ORPHA:939
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in childhood	OMIM:617186
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Spl...	ORPHA:809
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Bicuspid aortic valve, Absent thumb, Unilateral r...	OMIM:614900
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Short neck, Abnormal form...	ORPHA:233
Neuromuscular Oculoauditory Syndrome	Epicanthus, Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle hypertroph...	OMIM:618733
Essential Thrombocythemia	Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Coxa valga, Tape...	OMIM:301040
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ...	OMIM:619055
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Microg...	OMIM:153400
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver...	OMIM:618641
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathi...	OMIM:610536
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial suture closure, ...	ORPHA:357058
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive in infancy, Skin rash, Ataxia, Microcephaly, Flu...	OMIM:610377
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Kyphosis, Micrognathia, Apla...	ORPHA:476126
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Muscular dystrophy	OMIM:614830
Micro Syndrome	Anteverted nares, Micrognathia, Joint stiffness, Kyphosis, Optic atrophy, Wide nasal bridge, Scol...	ORPHA:2510
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Overlapping toe, Ventricular septal defect, Partial agenesis of the corpus call...	OMIM:617478
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Craniosynostosis, Optic disc coloboma, Choanal stenosis, Shor...	ORPHA:1790
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Chromosome 19Q13.11 Deletion Syndrome, Distal	Overlapping toe, Anteverted nares, Micrognathia, Carious teeth, Underdeveloped nasal alae, Wide n...	OMIM:613026
Developmental And Epileptic Encephalopathy 1	Choreoathetosis, Microphthalmia, Microcephaly	OMIM:308350
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Nanophthalmos 4	Microphthalmia	OMIM:615972
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Intrauterine growth retardation, Bicuspid aortic valve, Recurrent skin infe...	OMIM:617744
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, Cleft hard palat...	ORPHA:2152
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Tinnitus	ORPHA:231625
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Micrognathia, Short neck, Neonatal asphyxia, Respiratory insufficien...	OMIM:608779
Noonan Syndrome 9	Ventricular septal defect, Short neck, Coarctation of aorta, Prolonged prothrombin time, Pulmonic...	OMIM:616559
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal...	ORPHA:364577
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Missing ribs, Microcephaly, Recurrent pneumonia, Ri...	OMIM:304050
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Micrognathia, Hypoplasia of the radius, Hip dislocation, Hem...	ORPHA:3412
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia...	ORPHA:306542
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, L...	OMIM:615866
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip,...	OMIM:100300
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers	OMIM:608703
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Fetal Hydantoin Syndrome	Depressed nasal ridge, Abnormality of the fontanelles or cranial sutures, Triphalangeal thumb, Sh...	ORPHA:1912
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Chronic mucocutaneous cand...	OMIM:240300
Branchiootorenal Syndrome 1	Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont...	OMIM:113650
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Rhabdomyolysis, Cholestasis...	ORPHA:746
Oculo-Palato-Cerebral Syndrome	Microcephaly, Small hand, Short foot, Microphthalmia, Joint hypermobility	ORPHA:2714
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Recurrent patellar disloc...	OMIM:615877
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cachexia, Upper-limb joint contracture, D...	ORPHA:300605
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v...	ORPHA:99104
Grange Syndrome	Syndactyly, Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Renovascular hyp...	OMIM:602531
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Met...	OMIM:620024
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Joint laxity, Relative macrocephaly, Eczema, Large for gestational age, Deep palma...	OMIM:607721
Cerebrooculonasal Syndrome	Encephalocele, Anteverted nares, Optic nerve hypoplasia, Postaxial polydactyly, Craniosynostosis,...	OMIM:605627
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Sensorineural hearing impairment, Pulmonic stenosis	OMIM:264140
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Increased variability in muscle fiber diameter, Increased muscle glycogen cont...	ORPHA:502423
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Conical tooth, Partial agenesis of the corpus callosum, Prominen...	OMIM:135900
Pallister-Hall Syndrome	Hemivertebrae, Depressed nasal ridge, Holoprosencephaly, Atrial septal defect, Atrioventricular c...	ORPHA:672
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoli...	ORPHA:79107
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency	OMIM:609981
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl...	ORPHA:26793
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, High, narrow palate, Protruding ear, Abnormal curvature of the ...	OMIM:619475
Lathosterolosis	Toe syndactyly, Anteverted nares, Lumbosacral meningocele, Micrognathia, Postaxial hand polydacty...	OMIM:607330
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Dilation of Virchow-Robin spaces, Tapered toe, Polyhydramnios, Tapered finger, Cel...	ORPHA:544488
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Fai...	ORPHA:85410
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol...	ORPHA:803
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas...	OMIM:200980
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Mi...	ORPHA:46059
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers	OMIM:614116
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, C...	ORPHA:468631
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal stenosis, Primum atr...	OMIM:619534
Arachnoid Cyst	Back pain, Encephalocele, Facial palsy, Subarachnoid hemorrhage, Vertigo, Hydrocephalus, Holopros...	ORPHA:2356
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio...	OMIM:182250
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Flat face	OMIM:618154
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Warburg Micro Syndrome 4	Decreased muscle mass, Inability to walk, Flexion contracture, Secondary microcephaly, Microphtha...	OMIM:615663
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Conductive hea...	ORPHA:99843
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Abnormal cortical bone morphology, Agenesis of corpus callosum	ORPHA:2512
Al Amyloidosis	Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He...	ORPHA:85443
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h...	OMIM:615220
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Pes planus, Genu recurvatum, Microcephaly, Hip dislocation, Bronchiecta...	ORPHA:90348
Bacterial Toxic-Shock Syndrome	Myositis, Osteomyelitis, Fasciitis, Sinusitis, Pneumonia, Skin rash, Glomerulonephritis, Abnormal...	ORPHA:36234
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myopathy, Increased variability in muscle fiber diameter	OMIM:604377
Proteus Syndrome	Decreased muscle mass, Pulmonary embolism, Lymphedema, Abnormal finger morphology, Abnormal form ...	ORPHA:744
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Micrognathia, Bifid thoracic vertebrae, Foot polydactyly, Short ...	ORPHA:268249
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Micromeli...	ORPHA:199
Poikiloderma With Neutropenia	Joint laxity, Depressed nasal bridge, Micrognathia, Carious teeth, Joint stiffness, Underdevelope...	OMIM:604173
Barth Syndrome	Mandibular prognathia, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, ...	OMIM:302060
Superficial Siderosis	Abnormal bleeding, Back pain, Lower limb muscle weakness, Subarachnoid hemorrhage, Partial anosmi...	ORPHA:247245
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro...	OMIM:208500
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi...	OMIM:216400
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Endoc...	ORPHA:183
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Micrognathia, Microcephaly, Preaxial polydactyly, Myopa...	OMIM:243605
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Microcephaly, Micrognathia, Triangular face, Decreased body weight	OMIM:618342
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Tendon...	OMIM:186580
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist...	ORPHA:1647
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fontanelle, Broad n...	ORPHA:357074
Whipple Disease	Myositis, Pericarditis, Ataxia, Cachexia, Myocarditis, Splenomegaly, Uveitis, Pedal edema, Arthri...	ORPHA:3452
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Microcephaly, Unilateral microphthalmos, Macrocephaly, Failure to thrive, Adducted thumb	OMIM:618874
Senior-Loken Syndrome 8	Hepatic cysts, Pancreatic cysts, Vascular dilatation, Polydactyly, Intrahepatic bile duct dilatation	OMIM:616307
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Ascites	ORPHA:284227
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl...	OMIM:615512
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Pedal edema, Arthri...	ORPHA:342
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Large fontanelles, Short clavicles, Lambdoidal craniosynosto...	OMIM:603116
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Craniosynostosis, Moyamoya phenomenon	ORPHA:401986
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, ...	ORPHA:319675
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope...	OMIM:304790
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough	ORPHA:99931
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type	Coarse facial features, Triangular face	ORPHA:293707
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Micrognathia, High palate, Emphysema, Prominence of the premaxil...	OMIM:614437
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Short nose	OMIM:618437
Peroxisome Biogenesis Disorder 11A (Zellweger)	Large face, Wide anterior fontanel, Failure to thrive, Triangular face	OMIM:614883
Autosomal Recessive Faciodigitogenital Syndrome	Long face, Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Joint hyperflexib...	ORPHA:1974
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Tachypnea, Reduced bone mineral density, High palate, Cough, Emphysema, Hepatic steat...	OMIM:613658
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Gingivitis, Finger syndactyly, Open bite, Abnormal rib morphology, Joint hyperflexibi...	ORPHA:2907
Cockayne Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Inability to walk, Splenomegaly, Kyphosis, Contracture...	ORPHA:191
Medulloblastoma	Elevated hepatic transaminase, Back pain, Vertigo, Cerebellar hemorrhage, Adenomatous colonic pol...	ORPHA:616
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Microcephaly, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe syndactyly, Po...	OMIM:264480
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Prolonged QT interval, Tachycardia, Low-set, posteriorly rotated ears, Bicuspid ao...	ORPHA:1772
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Wormian bones, Congenital hip dislocation	OMIM:614450
White-Sutton Syndrome	Joint laxity, Mandibular prognathia, Depressed nasal bridge, Optic nerve hypoplasia, Short neck, ...	OMIM:616364
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa...	ORPHA:980
Hereditary Pheochromocytoma-Paraganglioma	Pulsatile tinnitus, Cerebral hemorrhage, Congestive heart failure, Paroxysmal vertigo, Palpitatio...	ORPHA:29072
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Pruritus, S...	OMIM:211600
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Death in childh...	OMIM:309500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apne...	ORPHA:438213
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Dk1-Cdg	Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hy...	ORPHA:91131
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Optic atrophy, Single naris, Megalopapill...	OMIM:615636
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Sacral dimple, Anteverted nares, Micrognathia, Wide nasal bridge, Poly...	OMIM:247200
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ragged-red muscle fibers	ORPHA:1349
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Angina pectoris, Epistaxis, Portal hype...	ORPHA:729
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Carey-Fineman-Ziter Syndrome	Anteverted nares, Facial palsy, Micrognathia, Ulnar deviation of finger, Talipes equinovarus, Sco...	ORPHA:1358
3Q27.3 Microdeletion Syndrome	Arachnodactyly, Triangular face, Kyphoscoliosis	ORPHA:397695
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Neonatal respiratory distress, Congenital hip dislocation, Anteverted nares, O...	OMIM:244450
Spastic Ataxia 5, Autosomal Recessive	Onion bulb formation	OMIM:614487
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Iridocyclitis, Splenomegaly, Bone cyst, Clubbing, Bronchiectasis, Uveitis, Weight l...	OMIM:181000
Gaucher Disease, Perinatal Lethal	Respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Micrognathia, Neonatal dea...	OMIM:608013
Glycogen Storage Disease Xii	Epicanthus, Myopathy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Ptosis	OMIM:611881
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholecystitis, Broad ribs, Broad metacarpals, Hepatomegaly, Depressed nasal bridge, Tapered finge...	OMIM:301066
Chops Syndrome	Anteverted nares, Optic atrophy, Aspiration pneumonia, Tracheomalacia, Cervical C2/C3 vertebral f...	OMIM:616368
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Ataxia, Microcephaly, Tapered finger, Oval face, Dysmetria, Gait ataxia, Trunca...	OMIM:617330
Holoprosencephaly 14	Median cleft lip, Ventricular septal defect, Anteverted nares, Proboscis, Alobar holoprosencephal...	OMIM:619895
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusi...	OMIM:225400
Hydranencephaly	Stiff neck, Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, In...	ORPHA:2177
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Asthma, Recurrent pneumonia, Concave nasal ridge, Short nos...	OMIM:170100
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ...	ORPHA:466768
Kagami-Ogata Syndrome	Pursed lips, Respiratory failure requiring assisted ventilation, Anteverted nares, Diastasis rect...	ORPHA:254519
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Mixed hearing impairment, Short neck, Sensorineural hearing impa...	OMIM:118100
Mandibuloacral Dysplasia	Narrow nose, Micrognathia, Hypoplasia of teeth, Contractures of the large joints, Osteolytic defe...	ORPHA:2457
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga...	ORPHA:99845
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th...	OMIM:152700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Muscular dystrophy, Macrocephaly, Microphthalmia, Adducted thumb	OMIM:614643
Rippling Muscle Disease 1	Skeletal muscle hypertrophy	OMIM:600332
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Respiratory failure, Osteopetrosis	ORPHA:3240
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Umbilical hernia, Short sternum,...	OMIM:222448
Mccune-Albright Syndrome	Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Hepatocel...	ORPHA:562
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease, Talipes calcaneovalgus	OMIM:600251
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy	ORPHA:369840
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Sensorineural hearing impairment, Dilated cardiomyopathy, Arr...	ORPHA:254913
Acrofacial Dysostosis, Cincinnati Type	Microcephaly, Micrognathia, Femoral bowing, Flared lower limb metaphysis, Decreased body weight, ...	OMIM:616462
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, D...	ORPHA:1791
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect, Posteriorly rotated ears, Congenital diaphragmat...	OMIM:613309
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys...	ORPHA:1677
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Hydrocephalus, Abnormal fi...	ORPHA:1812
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Joint subluxation, Muscle fiber splitting	OMIM:606408
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia	OMIM:310095
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Microcephaly, Micrognathia, Hip dysplasia, Scoliosis, Macroceph...	OMIM:616975
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Scoliosis, Arrhythmia	ORPHA:96
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality of the vertebra...	OMIM:601076
Glutaryl-Coa Dehydrogenase Deficiency	Joint dislocation, Communicating hydrocephalus, Vertigo, Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased ...	OMIM:619510
Global Developmental Delay With Speech And Behavioral Abnormalities	Micrognathia, Microcephaly, Macrocephaly, Recurrent otitis media, Triangular face, Joint hypermob...	OMIM:619243
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Skin rash, Epistaxis, Congestive heart fail...	ORPHA:727
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator...	OMIM:220110
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Micrognathia, Microvesicular hepatic steatosis, Partial agenesis of the co...	OMIM:220111
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De...	ORPHA:101085
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
19P13.13 Microdeletion Syndrome	Sandal gap, Optic nerve hypoplasia, Anteverted nares, Depressed nasal bridge, Long fingers, Optic...	ORPHA:357001
Distal 22Q11.2 Microduplication Syndrome	Coarse facial features, Toe syndactyly, Camptodactyly of finger, Tapered finger, Microcephaly, Mi...	ORPHA:261337
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Short nose, Optic atrophy, Micrognathia	OMIM:256600
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Edema of the dorsum of feet, Congenital d...	OMIM:601803
Glutaric Acidemia I	Symmetrical progressive peripheral demyelination, Delayed myelination	OMIM:231670
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia	ORPHA:375
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate,...	OMIM:268300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Pes planus, Broad hallux, Arachnodactyly, Facial asymmetry, Short finger, Microphth...	OMIM:601552
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Short neck, Tapered finger, Underdeveloped nasal alae, Bulbous nose, Wide nasal b...	OMIM:615803
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Skeletal muscle hypertrophy, Muscular dystrophy	OMIM:613158
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Bullous Impetigo	Pustule, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Peripheral demyelination	ORPHA:171629
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re...	OMIM:620296
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Intermittent hyperventilation, Optic nerve hypoplasia, Prominent nasal bridge,...	OMIM:300749
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Hip dislocation, Hip dysplasia, Talipes equinovarus, Camptodactyly, Joint contrac...	OMIM:617403
Holoprosencephaly 7	Microcephaly, Bilateral microphthalmos, Absent nasal septal cartilage, Broad face, Macrocephaly, ...	OMIM:610828
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Autosomal Recessive Spastic Paraplegia Type 55	Decreased sensory nerve conduction velocity, Optic atrophy, Onion bulb formation, Optic neuropathy	ORPHA:320375
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Short nose, Micrognathia, Tapered finger	ORPHA:1920
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Peripheral axonal neurop...	ORPHA:254930
Hemihyperplasia, Isolated	Skeletal muscle hypertrophy, Scoliosis	OMIM:235000
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Atrial ...	OMIM:147920
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ...	ORPHA:206436
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Skin rash, Edema, Periorbital edema, Myocarditis, Splenomega...	ORPHA:3386
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Death in infancy, Sudden cardiac death, Congenital d...	ORPHA:991
Craniosynostosis 4	Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynostosis, Pansynostosis, Lambdoi...	OMIM:600775
Autosomal Dominant Progressive External Ophthalmoplegia	Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Facial pal...	ORPHA:254892
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Joint laxity, Relative macrocephaly, Pes planus, Left ventricular hypertrophy, Lon...	ORPHA:466791
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol...	OMIM:277300
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Familial Exudative Vitreoretinopathy	Microphthalmia, Microcephaly, Reduced bone mineral density	ORPHA:891
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Dental crowding, Joint hypermobility, Narrow nose, Micrognathia, Pect...	OMIM:619329
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina...	OMIM:208920
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Micrognathia, Partial agenesis of the corpus callosum, Preaxial polydact...	OMIM:615948
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta...	ORPHA:45452
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular fun...	OMIM:619991
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Delayed peripheral myelination	ORPHA:464282
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Pes planus, Coarse facial features, Ataxia, Tapered finger, Microcephaly, Long fingers, Hyperlord...	OMIM:619950
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss...	OMIM:146300
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, Short nose, Broad columella	OMIM:617865
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustul...	ORPHA:29207
Neurofibromatosis-Noonan Syndrome	Pectus excavatum of inferior sternum, Posteriorly rotated ears, Depressed nasal bridge, Short nec...	OMIM:601321
Wolcott-Rallison Syndrome	Acute hepatic failure, Metaphyseal dysplasia, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	ORPHA:1667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia, Muscular dystrophy	OMIM:613153
Parietal Foramina 1	Wormian bones, Encephalocele	OMIM:168500
Partington Syndrome	Gait disturbance, Triangular face	ORPHA:94083
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Meckel Syndrome	Accessory spleen, Bowing of the long bones, Anophthalmia, Talipes, Microcephaly, Micrognathia, Pr...	ORPHA:564
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural...	ORPHA:330001
Townes-Brocks Syndrome	Anteriorly placed anus, Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th finger...	ORPHA:857
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Micrognath...	ORPHA:1300
Pterygium Colli, Isolated	Short nose	OMIM:177990
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Clubbing, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid ...	ORPHA:79128
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Microcephaly	OMIM:251270
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Flat face	OMIM:122880
Schisis Association	Encephalocele, Anencephaly, Spina bifida, Micromelia	ORPHA:63862
Waardenburg Syndrome, Type 2E	Pectus excavatum, Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated ve...	OMIM:611584
Deeah Syndrome	Prominent nasal tip, Death in infancy, Cervical hemivertebrae, Neonatal respiratory distress, Sho...	OMIM:619004
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Central apnea, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calc...	ORPHA:522077
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Flexion contracture, Skeletal muscle hypertrophy, Myopathy, Gait disturb...	ORPHA:682
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
C Syndrome	Joint dislocation, Congenital diaphragmatic hernia, Micrognathia, Short neck, Polyhydramnios, Mic...	ORPHA:1308
Turnpenny-Fry Syndrome	Prominent interphalangeal joints, Decreased body weight, Long face, Lumbar hyperlordosis, Tapered...	OMIM:618371
Q Fever	Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis...	ORPHA:781
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Kyphoscoliosis, Multiple prenatal fractures, Bulbous nose, Wormian bones, ...	OMIM:618644
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Short neck, Micromelia, Postaxial hand polydactyly, Short nose	OMIM:200995
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Optic atrophy, Hypoplasia of the zy...	OMIM:614800
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Intellectual Developmental Disorder With Neuropsychiatric Features	Triangular face	OMIM:617532
Fabry Disease	Transient ischemic attack, Angina pectoris, Myocardial infarction, Lymphedema, Congestive heart f...	OMIM:301500
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Small for gestational ag...	OMIM:201750
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening, Short nose, Dela...	OMIM:613038
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co...	OMIM:614823
Mowat-Wilson Syndrome	Uplifted earlobe, Pectus carinatum, Widely spaced teeth, Atrial septal defect, Agenesis of corpus...	OMIM:235730
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Death in infancy, Spin...	ORPHA:2308
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis, Vascular dilatation	OMIM:137280
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microcephaly, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Buphthalmos, Mus...	OMIM:613150
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Talipes equinovarus, Holoprose...	ORPHA:261236
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Sudden cardiac death, Arrhy...	ORPHA:156
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Hellp Syndrome	Elevated hepatic transaminase, Back pain, Pulmonary edema, Cerebral hemorrhage, Prolonged prothro...	ORPHA:244242
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial...	ORPHA:139466
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard...	OMIM:618280
Granulomatosis With Polyangiitis	Sinusitis, Periorbital edema, Otitis media, Cough, Abnormal oral cavity morphology, Chronic otiti...	ORPHA:900
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Arthritis, Leukopenia, Microangiopathic hem...	ORPHA:93552
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Neonatal asphyxia, Recurrent...	ORPHA:420741
Wrinkly Skin Syndrome	Osteopenia, Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Delayed cra...	OMIM:278250
Legius Syndrome	Paroxysmal atrial tachycardia, Mitral valve prolapse, Diaphyseal dysplasia, Abnormal sternum morp...	ORPHA:137605
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Cardiomyopa...	ORPHA:228305
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Coffin-Siris Syndrome	Joint laxity, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad nasal ti...	ORPHA:1465
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Underdev...	OMIM:300912
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Vertigo, Dyspnea, Syncope, Arrhythmia	ORPHA:871
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of ...	OMIM:614207
Fusariosis	Brain abscess, Myositis, Sinusitis, Osteomyelitis, Fasciitis, Maculopapular exanthema, Pneumonia,...	ORPHA:228119
Transaldolase Deficiency	Pancytopenia, Small for gestational age, Wide anterior fontanel, Thrombocytopenia, Splenomegaly, ...	OMIM:606003
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content	ORPHA:228302
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contracture, Blepharoph...	OMIM:619036
Okamoto Syndrome	Tented upper lip vermilion, Primum atrial septal defect, Downturned corners of mouth, Exaggerated...	ORPHA:2729
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Abnormality of the ear, Agen...	ORPHA:2556
Meningioma	Back pain, Facial palsy, Cerebral hemorrhage, Progressive pulmonary function impairment, Ear pain...	ORPHA:2495
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis	OMIM:616414
Isolated Arrhinia	Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas...	ORPHA:1134
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Wide mouth, Scoliosis, Pulmonic stenosis, Hyperventilation	OMIM:614325
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti...	OMIM:164210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Generalized Pustular Psoriasis	Overweight, Pustule, Leukocytosis, Obesity, Uveitis, Pedal edema, Cheilitis, Arthritis, Palmoplan...	ORPHA:247353
Thrombotic Thrombocytopenic Purpura	Dyspnea, Arrhythmia, Stroke, Myocardial infarction	ORPHA:54057
Listeriosis	Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv...	ORPHA:533
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio...	ORPHA:555874
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Failure to thrive, Eczema, Microcytic anemia	OMIM:612379
Khan-Khan-Katsanis Syndrome	Sacral dimple, Postaxial polydactyly, Micrognathia, Delayed closure of the anterior fontanelle, J...	OMIM:618460
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,...	ORPHA:365
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Cardiomegaly, Prominent nose, Flexion contracture, Hepatomegaly, Finger ...	OMIM:256040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia, Muscular dystrophy	OMIM:615181
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Asthma, Holoprosenceph...	ORPHA:280200
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Osteomyelitis, Cerebral hemorrhage, Conical tooth	OMIM:301081
Castleman Disease	Myelofibrosis, Weight loss, Anemia, Decreased mean corpuscular volume, Thrombocytopenia	ORPHA:160
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Optic disc coloboma, Trapezoidal vertebral body, Short phalanx of f...	OMIM:600092
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
D-Bifunctional Protein Deficiency	Osteopenia, Depressed nasal bridge, Micrognathia, Decreased nerve conduction velocity, Split hand...	OMIM:261515
Shigellosis	Failure to thrive in infancy, Pneumonia, Abscess, Myocarditis, Peritonitis, Rhabdomyolysis, Leuko...	ORPHA:810
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Immunodeficiency 23	Allergic rhinitis, Eczema, Esophageal stricture, Sensorineural hearing impairment, Asthma, Bronch...	OMIM:615816
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic...	ORPHA:99094
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj...	OMIM:617321
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Micrognathia, Absent radius, Absent thumb, Bilateral talipes equinovarus, Mic...	OMIM:614083
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Intrauterine growt...	OMIM:618775
Legionnaires Disease	Pericarditis, Splenomegaly, Myocarditis, Jaundice, Recurrent pharyngitis, Hepatitis, Endocarditis...	ORPHA:549
Ivic Syndrome	Aplastic clavicle, Hearing impairment, Joint stiffness, Preaxial hand polydactyly, Short thumb, H...	ORPHA:2307
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Pes planus, Overlapping toe, Kyphoscoliosis, Knee flexion contracture, Hip dysplasi...	OMIM:617402
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Villous atrophy, Bicuspid aortic valve, Gastritis, Ventricula...	ORPHA:84064
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Tooth abscess, Bowing of the legs	ORPHA:89937
Acetazolamide-Responsive Myotonia	Skeletal muscle hypertrophy, Gait disturbance	ORPHA:99736
Baraitser-Winter Syndrome 2	Microphthalmia, Secondary microcephaly	OMIM:614583
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Lumbar hyperlordosis, Short neck, Joint stiffness, Hydrocephalus, Flexion c...	ORPHA:505248
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Brody Disease	Skeletal muscle hypertrophy, Flexion contracture	OMIM:601003
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar...	OMIM:175050
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy	OMIM:617675
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Broad hallux, Sandal gap, Facial palsy, Tapered finger, Hyperlordosis, Carious teet...	OMIM:615873
Sotos Syndrome	No permanent dentition, Flexion contracture, Pedal edema, Conductive hearing impairment, Atrial s...	ORPHA:821
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,...	OMIM:610978
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Wide nose, Polyhydramnios, Cleft upper lip, Short neck, Short ...	ORPHA:1394
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck, Abnormal mot...	ORPHA:2912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Osteoporosis, Rickets, Dehydration, Death in adolescence, Death in childhood, Heari...	OMIM:560000
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Ragged-red muscle fibers, Ptosis	OMIM:614924
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Skin rash, Edema, Myocarditis, Jaundice, Vasculiti...	ORPHA:2331
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Flexion contracture, Limitation of joint mobility, Osteolysi...	ORPHA:90153
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Feingold Syndrome 1	Accessory spleen, Microcephaly, Micrognathia, Short thumb, Short toe, 4-5 toe syndactyly, Aspleni...	OMIM:164280
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Acute Liver Failure	Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, ...	ORPHA:90062
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Failure to thrive, 2-3 toe syndactyly, Triangular face	OMIM:616539
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Ankle swe...	ORPHA:275766
Orofaciodigital Syndrome Type 14	Microretrognathia, Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Acce...	ORPHA:434179
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Coronal craniosynostosis	ORPHA:228390
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Vascular dilatation	OMIM:277320
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Limb joint contracture	OMIM:620327
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator...	OMIM:610505
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Leigh Syndrome	Respiratory failure, Multiple joint contractures, Optic atrophy, Abnormal pattern of respiration	ORPHA:506
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, High, narrow palate, Hydr...	ORPHA:228308
Fraser Syndrome 2	Wide nose, Underdeveloped nasal alae, Short neck, Cutaneous syndactyly, Respiratory failure	OMIM:617666
Distal Deletion 9P	Short nose, Short neck, Wide nasal bridge, Brachydactyly	ORPHA:1642
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:607625
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Ptosis	OMIM:530000
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne...	OMIM:617159
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati...	ORPHA:1675
Dend Syndrome	Clinodactyly of the 4th finger, Prominent metopic ridge, Anteverted nares, Short nose	ORPHA:79134
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination	ORPHA:255210
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Respiratory distress, Osteomyelitis, Skin rash, Pustule, Splenomegaly, ...	OMIM:612852
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension, Acne	ORPHA:90795
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Co...	ORPHA:99745
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Microphthalmia, Syndromic 3	Vertebral fusion, Ventricular septal defect, Missing ribs, Esophageal atresia, Patent ductus arte...	OMIM:206900
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment	ORPHA:2578
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Sacral dimple, Anteverted nares, Depressed nasal bridge, Short neck, Cubitus va...	OMIM:617157
Systemic Capillary Leak Syndrome	Pericarditis, Pulmonary edema, Myocarditis, Cardiorespiratory arrest, Pedal edema, Pleural effusi...	ORPHA:188
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Painless fractures due to injury, Abn...	ORPHA:642
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Atrial Septal Defect 9	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:614475
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Recurrent pneumonia, Wide nasal bridge, Scoliosis, Short nose	OMIM:619179
Boutonneuse Fever	Respiratory failure	ORPHA:83313
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Periodic Fever, Familial, Autosomal Dominant	Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv...	OMIM:142680
Distal Deletion 3P	Micrognathia, Microcephaly, Postaxial hand polydactyly, Clinodactyly of the 5th finger, Triangula...	ORPHA:1620
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Periostitis, Crusting eryt...	ORPHA:324625
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Cystinosis	Portal hypertension, Malabsorption, Rickets, Dehydration, Myopathy	ORPHA:213
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb...	OMIM:608681
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos...	ORPHA:79404
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build, Ptosis	OMIM:603041
Nijmegen Breakage Syndrome	Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Short neck, Recurrent pneumonia, ...	ORPHA:647
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcephaly, Micrognathia, Clinodactyly of t...	ORPHA:1587
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Hydrocephalus, Conotruncal defect, Cleft palate, Anotia, Microtia	OMIM:243440
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Hec Syndrome	Communicating hydrocephalus, Polyhydramnios, Respiratory insufficiency, Cardiomyopathy, Endocardi...	ORPHA:2119
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality of the dentition, Sensori...	ORPHA:3220
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Bicuspid aortic valve, Posteriorly rotated ears, Hearing impairment, Depressed nasal br...	OMIM:613355
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Optic atrophy, Hypoplasia of teeth, Short nose, Retrognathia	OMIM:234050
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent aphthous stomatitis	ORPHA:343
Agel Amyloidosis	Tongue atrophy, Facial palsy, Edema, Pruritus, Xerostomia, Cardiomyopathy, Blepharochalasis, Abno...	ORPHA:85448
Trichothiodystrophy 1, Photosensitive	Death in infancy, Asthma, Flexion contracture, Short nose, Retrognathia	OMIM:601675
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Clubbing, Clubbin...	OMIM:226300
Lesch-Nyhan Syndrome	Anemia, Gout	ORPHA:510
Lymphangiectasia, Intestinal	Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs	OMIM:152800
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul...	ORPHA:404454
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Failure to thrive, Lymphopenia, Neutropenia	OMIM:616395
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Skin rash, Eczema, Ataxia, Erythema nodosum, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:615688
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Increased bone mineral density, Abnormal heart valve mo...	ORPHA:77261
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Elevated circulating aspartate aminotransfera...	ORPHA:2088
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula...	ORPHA:79102
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Rickets, Cholestasis...	ORPHA:79303
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho...	ORPHA:254534
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Sudden episodic apnea, Rhabdomyolysis, Ventricular t...	ORPHA:159
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Hydrops fetalis, Narrow chest, Absent or minimally ossified vertebral b...	ORPHA:93271
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Glycogen Storage Disease Ia	Decreased muscle mass, Osteoporosis, Gout, Pancreatitis, Doll-like facies	OMIM:232200
Abetalipoproteinemia	Osteopenia, Respiratory failure, Talipes equinovarus, Kyphoscoliosis	ORPHA:14
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo...	OMIM:241520
White-Kernohan Syndrome	Joint laxity, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hip dysplasia,...	OMIM:619426
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar...	OMIM:614204
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Perimembranous ventric...	OMIM:611376
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ...	OMIM:615067
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anteverted nares, Arachnodactyly, Depressed nasal bridge, Abnormal thumb morphology, Limitation o...	ORPHA:2719
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Lymphangiectasia, Pulmonary, Congenital	Flat face, Pedal edema	OMIM:265300
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Eczema, Celiac disease, Osteoporosis, Rickets, Prolonged prothromb...	OMIM:212750
Hydrolethalus Syndrome 1	Polyhydramnios, Micrognathia, Severe hydrocephalus, Agenesis of corpus callosum, Accessory spleen...	OMIM:236680
East Syndrome	Peripheral axonal neuropathy, Peripheral hypomyelination	ORPHA:199343
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Optic atrophy, Respiratory insufficiency	OMIM:618329
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Acne, Myocardial infar...	ORPHA:117
Bloom Syndrome	Pneumonia, Micrognathia, Chronic pulmonary obstruction, Respiratory failure, Rhinitis, Malar flat...	ORPHA:125
Autoimmune Hepatitis	Viral hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Thyroiditis, Ulcerative c...	ORPHA:2137
Currarino Syndrome	Absence of the sacrum, Anal stenosis, Hemisacrum, Perianal abscess, Vascular dilatation, Presacra...	OMIM:176450
Woolly Hair Nevus	Widely-spaced incisors, Enlarged vestibular aqueduct, Brachydactyly	ORPHA:79414
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Microcephaly	ORPHA:77299
Adenylosuccinase Deficiency	Prominent metopic ridge, Anteverted nares, Short nose	OMIM:103050
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Triangular face	OMIM:619264
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Secondary microcephaly, Abnormality of the palmar creases	OMIM:618652
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa...	ORPHA:79138
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea...	OMIM:602588
Tolchin-Le Caignec Syndrome	Arachnodactyly, Diastasis recti, Micrognathia, Clinodactyly of the 5th finger, Triangular face, L...	OMIM:618971
Danon Disease	Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,...	OMIM:300257
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Micrognathia, Asplenia, Hypoplastic pelvis, Microphthalmia, Tetr...	OMIM:273395
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Secondary microcephaly	OMIM:613730
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Intestinal fistula, Tricuspid stenosis, Edema, Right ventricular f...	ORPHA:100078
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Hydrocephalus, Rhabdomyolysis, Hepatic calcification...	ORPHA:157
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Round face, Chronic neutropenia, Osteoporosis, Enterocolitis, Gout, Increased suscept...	ORPHA:79259
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares, Metopic synostosis	OMIM:613735
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Abnormality of...	ORPHA:2785
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	ORPHA:99949
Abeta Amyloidosis, Dutch Type	Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100006
Congenital Left Ventricular Aneurysm	Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma...	ORPHA:1055
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8...	ORPHA:3261
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Back pain, Pancreatic islet cell adenoma, Myocardial infarction, Pancre...	ORPHA:892
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Lymphedema, Raynaud phenomenon, Spina bifida, Scoliosis, Hemiatrophy, Hypophosp...	ORPHA:2874
Stiff Person Spectrum Disorder	Lumbar hyperlordosis, Falls, Difficulty walking, Paraspinal muscle hypertrophy	ORPHA:3198
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Underdeveloped nasal alae, Abnormal nostril morpholo...	ORPHA:2315
Vici Syndrome	Lymphopenia, Micrognathia, Microcephaly, Decreased proportion of CD4-positive helper T cells, Chr...	OMIM:242840
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Osteomalacia, B...	OMIM:619381
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Obes...	ORPHA:98908
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Osteomyelitis, Cardiac shunt, Edema, Pulmonary embolism, Right ventricula...	ORPHA:70591
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Microcephaly	OMIM:152950
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Ataxia, Extramedullary hematopoiesis, Maculopapula...	ORPHA:822
Craniosynostosis And Dental Anomalies	Hallux valgus, Papilledema, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Promi...	OMIM:614188
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:2234
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Narrow face, Thoracic scoliosis, Broad hallux, Facial palsy, Facial asymmetry, Micrognathia, Apla...	OMIM:620186
Nelson Syndrome	Quadriceps muscle atrophy, Intracranial hemorrhage, Hypertension, Abnormality of the sphenoid sin...	ORPHA:199244
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Microcephal...	OMIM:615846
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Kyphoscoliosis, Delayed closur...	ORPHA:2834
Lipodystrophy, Familial Partial, Type 4	Skeletal muscle hypertrophy	OMIM:613877
Branchiooculofacial Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Conductive hearing impairment, Clinodactyl...	OMIM:113620
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Mandibular prognathia, Prominent nasal tip, Sandal gap, Optic nerve hypoplasia, Sho...	OMIM:620330
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Polyhydramnios, Respiratory insufficiency, Thin ribs, High palate, Retrognathia, Joint hypermobility	ORPHA:456328
Myotonia Congenita, Autosomal Recessive	Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities	OMIM:255700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy	OMIM:613154
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Depressed nasal bridge, Optic nerve hypoplasia, Short neck, Delayed p...	ORPHA:226307
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal ilium morphology, Short nose, Sh...	OMIM:614080
Microphthalmia, Syndromic 1	Dental crowding, Bicuspid aortic valve, High, narrow palate, Rectal prolapse, Orofacial cleft, Hi...	OMIM:309800
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Spontaneous Periodic Hypothermia	Arrhythmia, Skin rash, Abnormal pattern of respiration	ORPHA:29822
Incontinentia Pigmenti	Hypoplasia of the fovea, Maculopapular exanthema, Eosinophilia, Kyphoscoliosis, Microcephaly, Ker...	OMIM:308300
Macrocephaly/Autism Syndrome	Joint laxity, Short nose, Depressed nasal bridge	OMIM:605309
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:90674
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Mildly reduced left ventricular ejection fraction, Sensorineural hearing impairment	OMIM:618098
Paramyotonia Congenita	Skeletal muscle hypertrophy	OMIM:168300
Adiposis Dolorosa	Arthritis, Recurrent skin infections, Obesity	ORPHA:36397
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate, Flexion contracture, Generalized limb muscle atrophy, Ankle clonus, ...	OMIM:618891
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Anophthalmia, Hemivertebrae, Microphthalmia, Abnormal vertebral morphology	ORPHA:77298
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Death in infancy, Apnea, Optic neuropathy, Respiratory insufficiency, Respirat...	OMIM:252010
Glycogen Storage Disease Ib	Splenomegaly, Osteoporosis, Gout, Inflammation of the large intestine, Neutropenia, Pancreatitis,...	OMIM:232220
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Polyhydramnios, Micrognathia, Pericardial effusion, Recurrent upper respiratory...	OMIM:618183
Scorpion Envenomation	Bundle branch block, Edema, Tachypnea, Prominent U wave, Elevated circulating aspartate aminotran...	ORPHA:466677
Cryoglobulinemic Vasculitis	Splenomegaly, Arthritis, Keratoconjunctivitis sicca, Viral hepatitis	ORPHA:91138
Lipodystrophy, Congenital Generalized, Type 1	Cystic angiomatosis of bone, Acute pancreatitis, Splenomegaly, Generalized muscular appearance fr...	OMIM:608594
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Gastrointestinal stroma t...	ORPHA:221
Coenzyme Q10 Deficiency, Primary, 1	Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:607426
Dowling-Degos Disease	Palmar pits, Arthritis, Abnormality of the hand, Acne inversa	ORPHA:79145
Frontonasal Dysplasia 2	Microphthalmia, Craniosynostosis, Microcephaly	OMIM:613451
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Abnormality of the sphenoid sinus, Hydrocephalus	ORPHA:91350
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Lymphedema-Distichiasis Syndrome	Recurrent skin infections, Predominantly lower limb lymphedema, Cleft upper lip, Patent ductus ar...	ORPHA:33001
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction	OMIM:615812
Blau Syndrome	Pericarditis, Skin rash, Facial palsy, Camptodactyly of finger, Keratitis, Retrobulbar optic neur...	ORPHA:90340
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Otodental Syndrome	Lens coloboma, Periodontitis, Otitis media with effusion, Microphthalmia, Long face	ORPHA:2791
Lipodystrophy, Congenital Generalized, Type 2	Cystic angiomatosis of bone, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Generaliz...	OMIM:269700
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Prominent nasal bridge, Tapered finger, Abnormal toe morphology, Ky...	ORPHA:268261
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis, Failure to thrive, Weight loss	ORPHA:92050
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Bilateral sensorineural hearing impairment, Dehydration	OMIM:602722
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Pes planus, Scapular winging, G...	OMIM:619539
Tick-Borne Encephalitis	Elevated hepatic transaminase, Back pain, Skeletal muscle atrophy, Stiff neck, Facial palsy, Vert...	ORPHA:297
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Chilblains, Microcephaly, Neonatal alloimmune thrombocytop...	ORPHA:51
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Upper limb...	ORPHA:1435
Holoprosencephaly-Postaxial Polydactyly Syndrome	Talipes, Micrognathia, Microcephaly, Postaxial hand polydactyly, Microphthalmia	ORPHA:2166
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Micrognathia, Hip dislocation, Clinodactyly of ...	OMIM:613884
Acute Transverse Myelitis	Back pain, Orthostatic hypotension, Subarachnoid hemorrhage, Paralytic ileus, Hypertension, Upper...	ORPHA:139417
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Warburg-Cinotti Syndrome	Dental crowding, Posteriorly rotated ears, Ankle flexion contracture, Narrow nose, Underdeveloped...	OMIM:618175
Nocardiosis	Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P...	ORPHA:31204
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Dyspnea, Vertigo, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Hypercholanemia, Familial 1	Pruritus, Fat malabsorption, Rickets, Steatorrhea	OMIM:607748
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Chronic lym...	ORPHA:91139
Acys Amyloidosis	Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Arthritis, Inflammation of the large...	OMIM:301074
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M...	OMIM:615508
Autosomal Dominant Polycystic Kidney Disease	Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Hypertension, Dilatation of th...	ORPHA:730
Sturge-Weber Syndrome	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hearing a...	ORPHA:3205
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Jervell And Lange-Nielsen Syndrome	Syncope, Bilateral sensorineural hearing impairment, Torsade de pointes, Arrhythmia, Prolonged QT...	ORPHA:90647
Charcot-Marie-Tooth Disease Type 4B2	Myelin outfoldings, Decreased distal sensory nerve action potential, Optic atrophy	ORPHA:99956
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat...	OMIM:256800
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Ataxia, Gout	ORPHA:411543
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Abnormal EKG, Prolonged QT interval, Acute rhabdomyolysis, Sensori...	ORPHA:480864
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Pustule, Wheezing, Atopic dermatitis, Dehydration, Hypovolemic shock, Recurrent up...	ORPHA:171876
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Micrognathia, Short neck, Wide nasal bridge, Hypoxemia, Pulmonary arterial hype...	ORPHA:2282
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Abnormal spleen morphology, Microphthalmia, Failur...	ORPHA:2470
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology, Edema	ORPHA:97330
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Anteverted nares, Short palm, Short nose, Brachydactyly	ORPHA:3339
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormal pinna morphology, Abnormality of the dentition, Cleft upper lip, Arrhythmia, Tetraamelia	OMIM:273400
Reynolds Syndrome	Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Anteverted nares, Tapered finger, Carious teeth, Short thumb, Long nose, Broad nasal t...	OMIM:619522
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Cadds	Short nose, Micrognathia	ORPHA:369942
Xeroderma Pigmentosum, Complementation Group D	Ataxia, Microcephaly, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Mic...	OMIM:278730
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Thoracic scoliosis, Bicuspid aortic valve, Allergic rhinitis, Sensorineural ...	OMIM:176690
Kindler Epidermolysis Bullosa	Finger syndactyly, Recurrent skin infections, Camptodactyly of finger, Abnormal dental enamel mor...	ORPHA:2908
Axial Osteomalacia	Myopathy, Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ...	OMIM:617300
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Abnormality of the dentition	OMIM:193100
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Obesity	ORPHA:363741
Usher Syndrome, Type Ig	Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone	OMIM:606943
Tangier Disease	Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Facial diplegia, Left v...	ORPHA:31150
Alternating Hemiplegia Of Childhood	Respiratory distress, Exaggerated cupid's bow, Facial hypotonia, Cardiac conduction abnormality, ...	ORPHA:2131
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Obesity	OMIM:601794
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Myopathy, Arrhythmia, Abnormal dental enamel morphology	ORPHA:2238
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Death in infancy, Arrhythmia, Cardiac arrest, Abnormal pattern of respiration	ORPHA:168593
Paganini-Miozzo Syndrome	Triangular face	OMIM:301025
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Hydrocephalus, Flexion contracture, Optic atrophy, Genu valgum, Short nos...	OMIM:619321
Myotonia Congenita, Autosomal Dominant	Skeletal muscle hypertrophy	OMIM:160800
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Watson Syndrome	Low-set ears, Posteriorly rotated ears, Pulmonic stenosis, Pectus carinatum	OMIM:193520
Immunodeficiency 49	Wormian bones, Natal tooth, Umbilical hernia, Micrognathia	OMIM:617237
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, T lymphocy...	OMIM:300755
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Gout, Death in childhood, Short nose, Convex nasal ridge	OMIM:300661
Hereditary Xanthinuria	Arthropathy, Myopathy, Rheumatoid arthritis, Gout	ORPHA:3467
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Arthritis...	OMIM:260920
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstiti...	ORPHA:289390
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
Myotonia, Potassium-Aggravated	Skeletal muscle hypertrophy, Skeletal muscle atrophy	OMIM:608390
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Hepatosplenomegaly	OMIM:611590
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Respiratory insuff...	ORPHA:363623
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Micrognathia, Microcephaly, Buphthalmos, Congenital contracture, Micropht...	OMIM:236670
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Narrow face, Microcephaly, Macroglossia, Triangular face, Long face	ORPHA:93947
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormality of taste sensation, Unusual skin infection, Stiff neck, Sinusiti...	ORPHA:68
Cidec-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Pancreatitis	ORPHA:435651
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment	OMIM:251800
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Abnormal st...	ORPHA:42775
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood	OMIM:618278
Multiple Benign Circumferential Skin Creases On Limbs	Micrognathia, Lower limb asymmetry, Microcephaly, Upper limb asymmetry, Microphthalmia	ORPHA:2505
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Triangular face	ORPHA:65288
Linear Nevus Sebaceus Syndrome	Genu recurvatum, Vertebral segmentation defect, Biparietal narrowing, Microphthalmia, Facial asym...	ORPHA:2612
Plague	Abnormal bleeding, Chapped lip, Hepatomegaly, Tachycardia, Respiratory distress, Skin rash, Edema...	ORPHA:707
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology	OMIM:600057
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Small for gestational age, Abnormally large globe, Macrocephaly, Failure to thrive, T...	OMIM:241200
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Melas	Ragged-red muscle fibers, Optic atrophy, Myopathy, Failure to thrive, Abnormal mitochondria in mu...	ORPHA:550
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Fraser Syndrome	Finger syndactyly, Anophthalmia, Toe syndactyly, Microcephaly, Vertebral segmentation defect, Mic...	ORPHA:2052
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Microphthalmia	OMIM:610829
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Pes planus, Coarse facial features, Microcephaly, Talipes equinovarus, Triangular face	OMIM:617260
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's...	OMIM:249100
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Pes planus, Overweight, Macrocephaly, Recurrent otitis media, Failure to thrive, Triangular face,...	OMIM:619575
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Aplasia/Hypoplasia of the sternum, Microcephaly, A...	OMIM:219000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Choreoacanthocytosis	Equinovarus deformity, Peroneal muscle atrophy, Acanthocytosis, Splenomegaly, Abnormal erythrocyt...	ORPHA:2388
Colchicine Poisoning	Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres...	ORPHA:31824
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Microphthalmia, Abnormal palmar dermatoglyphics, Microcephaly	ORPHA:2728
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Peripheral hypomyelination, Chronic axonal neuropathy	OMIM:612780
Lymphatic Filariasis	Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, H...	ORPHA:2035
Cystinosis, Nephropathic	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Metaphyseal widening, Rickets, Dehydration, ...	OMIM:219800
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Aspartylglucosaminuria	Joint laxity, Anteverted nares, Depressed nasal bridge, Kyphosis, Hypoplastic frontal sinuses, Pl...	OMIM:208400
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Keratoconjunctivitis sicca, Abnormal facial shape	ORPHA:1806
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn...	ORPHA:273
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Abnormal facial shape	ORPHA:411536
Rodrigues Blindness	Microphthalmia, Abnormal facial shape	OMIM:268320
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Anteverted nares	ORPHA:96147
1P21.3 Microdeletion Syndrome	Broad nasal tip, Short nose, Joint hypermobility, Micrognathia	ORPHA:293948
Bohring-Opitz Syndrome	Delayed peripheral myelination	OMIM:605039
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Depressed nasal rid...	ORPHA:731
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Microcephaly	OMIM:147250
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Microcephaly	OMIM:617914
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Tapered finger, 2-3 toe syndactyly, Scoliosis, Hyposmia, Delayed cranial suture ...	OMIM:618653
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxill...	OMIM:305100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Facial palsy, Limb muscle weakness, Left bundle branch block, Abno...	OMIM:610131
Lipe-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in...	ORPHA:435660
Familial Cerebral Cavernous Malformation	Venous malformation, Scoliosis, Cerebral hemorrhage	ORPHA:221061
Papillorenal Syndrome	Joint laxity, Microphthalmia, Scoliosis	OMIM:120330
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Aganglionic megacolon, Abnormal dental enamel morphology, Campto...	ORPHA:2273
Dystonia 7, Torsion	Skeletal muscle hypertrophy, Torticollis	OMIM:602124
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Mala...	OMIM:229400
Kapur-Toriello Syndrome	Microphthalmia, Failure to thrive	ORPHA:2328
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Pontine Tegmental Cap Dysplasia	Facial palsy, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosi...	OMIM:614688
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Ataxia, Microcephaly	OMIM:610651
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti...	OMIM:610984
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension	OMIM:223900
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Recurrent fractures, Sensorineural hearing impairment, Rickets, Bilateral sensorineural hearing i...	OMIM:268315
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery...	ORPHA:71273
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal...	OMIM:175780
Microphthalmia, Syndromic 5	Joint laxity, Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Single transverse palmar crease	OMIM:619053
Peroxisome Biogenesis Disorder 13A (Zellweger)	Triangular face, Delayed closure of the anterior fontanelle, Micrognathia	OMIM:614887
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Dysbetalipoproteinemia	Tendon xanthomatosis, Acute pancreatitis, Obesity, Gout	ORPHA:412
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Keratitis, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hy...	ORPHA:2334
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Fanconi-Bickel Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Malabs...	OMIM:227810
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Sarcoidosis	Abnormal nasal mucosa morphology, Heart block, Ventricular tachycardia, Cough, Emphysema, Hepatom...	ORPHA:797
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block,...	ORPHA:509
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Distal Renal Tubular Acidosis	Osteomalacia, Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairment,...	ORPHA:18
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Marburg Hemorrhagic Fever	Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Orchitis, Neutrop...	ORPHA:99826
Gaisböck Syndrome	Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Gout, Inc...	ORPHA:90041
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers	OMIM:256810
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Rhabdomyolysis, Failure to thrive, Ragged-red muscle fibers, Ptosis	OMIM:124000
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hype...	ORPHA:94093
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Leber Optic Atrophy	Myopathy, Arrhythmia, Central retinal vessel vascular tortuosity	OMIM:535000
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus	ORPHA:805
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Leukopenia, Malar ra...	ORPHA:536
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Short mandibular rami, Spina bif...	OMIM:612109
Woodhouse-Sakati Syndrome	Osteopenia, Triangular face, Choreoathetosis	ORPHA:3464
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Rickets	OMIM:616026
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microcephaly, Panniculitis, Microphthalmia, Leukemia, Erysipelas	ORPHA:2526
Pierson Syndrome	Skeletal muscle atrophy, Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Hypoplasia...	OMIM:609049
African Trypanosomiasis	Hepatomegaly, Pericarditis, Abnormal EKG, Miscarriage, Pruritus, Myocarditis, Jaundice, Splenomeg...	ORPHA:3385
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Splenomeg...	ORPHA:163746
Gitelman Syndrome	Rhabdomyolysis, Gout, Tubulointerstitial nephritis, Iron deficiency anemia, Failure to thrive, Ha...	ORPHA:358
Foodborne Botulism	Respiratory insufficiency due to muscle weakness, Arrhythmia, Xerostomia, Cardiorespiratory arrest	ORPHA:228371
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Pustule, Orchitis, Arthritis, Infectious encephalitis	ORPHA:761
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Short nose, Optic atrophy	OMIM:614863
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Pneumonia, Myocarditis, Leukocytosis, Thrombocytopenia, Septic a...	ORPHA:544482
Norrie Disease	Narrow nasal bridge, Venous insufficiency, Sensorineural hearing impairment, Protruding ear, Abno...	ORPHA:649
Botulism	Arrhythmia, Xerostomia, Respiratory insufficiency	ORPHA:1267
Autosomal Dominant Hypocalcemia	Eczema, Congestive heart failure, Reduced bone mineral density, Hypotension, Arrhythmia, Abnormal...	ORPHA:428
Niemann-Pick Disease Type C	Respiratory failure, Respiratory insufficiency, Aspiration pneumonia	ORPHA:646
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Aganglionic megacolon	ORPHA:2151
Lipodystrophy, Familial Partial, Type 7	Small for gestational age, Dysmetria, Gait ataxia, Dysdiadochokinesis, Recurrent pancreatitis, Fa...	OMIM:606721
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Triangular face	ORPHA:85327
Lipodystrophy, Familial Partial, Type 2	Skeletal muscle hypertrophy, Round face, Increased intramuscular fat, Acute pancreatitis	OMIM:151660
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Ataxia, Triangular face	OMIM:615510
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis	OMIM:109650
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Failure to thrive	OMIM:300952
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Rachitic rosary	OMIM:612089
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Tubulointerstitial nephritis, Gout	OMIM:174000
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Osteomalacia, Peptic ulcer, Chondrocalcinosis	OMIM:600740
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Weigh...	ORPHA:99921
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Edema, Osteoporosis, Rickets, Colitis, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309031
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Glycogen Storage Disease Ic	Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis	OMIM:232240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Microcephaly, Buphthalmos, Hypoplasia of the retina, Muscular dystrophy, Microphtha...	OMIM:253280
Oculopalatocerebral Syndrome	Microphthalmia, Microcephaly	OMIM:257910
Histiocytoid Cardiomyopathy	Microphthalmia, Failure to thrive, Congenital aphakia	ORPHA:137675
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Leiomyosarcoma, Hyperten...	ORPHA:139411
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi, Uveitis	OMIM:221900
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Joint hyperflexibility, Arthritis	ORPHA:93111
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	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	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Macrocephaly, Microphtha...	ORPHA:141099
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Bartter Syndrome Type 4	Severe failure to thrive, Failure to thrive, Small for gestational age, Triangular face	ORPHA:89938
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Dehydration, Increased susceptibility to fractures	ORPHA:3337
Holoprosencephaly 2	Microphthalmia, Absent nasal septal cartilage, Scoliosis, Microcephaly	OMIM:157170
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Paranasal sinus hypoplasia	OMIM:603457
Familial Hypocalciuric Hypercalcemia	Pancreatitis, Osteomalacia, Peptic ulcer, Chondrocalcinosis	ORPHA:405
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Penile Agenesis	Depressed nasal bridge, Bilateral talipes equinovarus, Short nose	ORPHA:49
Woodhouse-Sakati Syndrome	Choreoathetosis, Triangular face	OMIM:241080
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Holoprosencephaly 1	Microphthalmia, Microcephaly	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos, Micrognathia	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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