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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

Disease Similarity of
phenotypes
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