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
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... ORPHA:93308
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... OMIM:132400
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... ORPHA:2114
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ab... ORPHA:166002
Mueller-Weiss Syndrome
Talipes calcaneovarus, Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limi... ORPHA:566943
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Micromelia, Upper limb undergrowth, Hypoplastic pelvis, Genu valgum, Abnormal epip... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Arthralgia of the hip, Difficulty walking, Hip subluxation, Dysplasia of the femor... ORPHA:99642
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Progressive Pseudorheumatoid Dysplasia
Enlarged metacarpophalangeal joints, Platyspondyly, Difficulty walking, Sclerotic vertebral endpl... OMIM:208230
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Delayed epiphyseal ossification, Osteoarthritis, Irregular epiphyses, Abnor... OMIM:600969
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Hyposegmentation of neutrophil nuclei, Broad hallux, Genu valgum, ... OMIM:618019
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Joint stiffness, Progressive joint destruction, Thicken... ORPHA:564003
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Double-layered patel... ORPHA:166011
Brachydactylous Dwarfism, Mseleni Type
Short toe, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality... ORPHA:2619
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Difficulty walking, Premature osteoarthrit... ORPHA:93314
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Ost... OMIM:614135
Epiphyseal Dysplasia, Multiple, 2
Broad-based gait, Epiphyseal dysplasia, Irregular epiphyses, Flattened epiphysis, Genu varum, Ost... OMIM:600204
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Hypochondroplasia
Abnormality of femur morphology, Short toe, Macrocephaly, Osteoarthritis, Brachydactyly, Genu var... ORPHA:429
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Osteochondrosis Of The Tarsal Bone
Chondritis, Antalgic gait, Arthritis, Tarsal sclerosis, Osteochondritis dissecans, Pedal edema, F... ORPHA:563991
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Platyspondy... OMIM:251450
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Eiken Syndrome
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... ORPHA:79106
Familial Avascular Necrosis Of Femoral Head
Flattened femoral head, Abnormal femoral neck/head morphology, Hip osteoarthritis, Limited hip mo... ORPHA:86820
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Dysspondyloenchondromatosis
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Limitation of joint mobility, Talipes equinovarus, Short femur, Und... OMIM:211350
Thoracomelic Dysplasia
Short ribs, Hyperlordosis, Gait disturbance, Abnormality of fibula morphology, Genu valgum, Limb ... ORPHA:1803
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Flexion contracture, Severe failure to thrive, Micrognathia, Flared metaphysis, M... OMIM:215100
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Osteoarthritis, Shallow acetabu... OMIM:142669
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... ORPHA:93307
Grant Syndrome
Large face, Joint dislocation, Abnormality of the glenoid fossa, Micrognathia, Facial asymmetry, ... ORPHA:2097
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Biconcave vertebral bodies, Arthralgia of the hip, ... ORPHA:93284
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Enlarged joints, Bowing of the legs, Lumbar hyperlordosis, Limited elbow extension, Limb undergro... ORPHA:156728
Kyphomelic Dysplasia
Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vertebral bodies, ... ORPHA:1801
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Macrocephaly, Oste... ORPHA:53
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Hip subluxation, Premature oste... ORPHA:93360
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... ORPHA:1240
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... ORPHA:93323
Chondroectodermal Dysplasia With Night Blindness
Talipes calcaneovarus, Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Oti... ORPHA:319195
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Decreased hip abduction, Multiple small vertebral fractures, Osteoarthritis of t... ORPHA:93311
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Platyspondyly, Upper limb undergrowth, Genu valgum, Small epiphyse... ORPHA:94068
Al-Gazali Syndrome
Recurrent fractures, Failure to thrive, Bilateral talipes equinovarus, Proximal radio-ulnar synos... OMIM:609465
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Ga... ORPHA:2501
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Solitary Bone Cyst
Lytic defects of the radius, Muscular edema, Abnormal humeral diaphysis morphology, Abnormality o... ORPHA:83468
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Platyspondyly, Flared femoral metaphysis, Sandal ... ORPHA:1427
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Rhizomelic Chondrodysplasia Punctata
Microcephaly, Scoliosis, Spina bifida occulta, Flat face, Limb undergrowth, Rhizomelia, Abnormal ... ORPHA:177
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... OMIM:105835
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short 1st metacarpal, Hip osteoarthritis, Short middle phalanx of finger, Abnormal epiphysis morp... ORPHA:63442
Schwartz-Jampel Syndrome, Type 1
Quadriceps muscle weakness, Congenital hip dislocation, Micromelia, Platyspondyly, Anterior bowin... OMIM:255800
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... OMIM:250215
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Micro... ORPHA:93346
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Dysplasia Epiphysealis Hemimelica
Flattened femoral head, Abnormality of femur morphology, Joint stiffness, Abnormal femoral neck m... ORPHA:1822
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... OMIM:601560
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Coxa valga, Hip dysplasia, Arthritis OMIM:615612
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... ORPHA:609
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Ptosis OMIM:614750
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pectus excavatum, Prominent sternum, 11 pairs of ribs, Sandal gap, Clinodactyly of t... OMIM:617877
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis, Osteoarthritis, Brachydactyly, Broad hallux, Hip osteoarthritis, Osteochond... OMIM:165800
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Horizontal sacrum, Depressed nasal bridge, Short neck, Microme... OMIM:256050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Osteopenia, Scoli... OMIM:271530
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Osteoarthritis, Brachydactyly OMIM:618618
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Desbuquois Dysplasia 2
Cutaneous syndactyly, Monkey wrench femoral neck, Platyspondyly, Single transverse palmar crease,... OMIM:615777
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormal form o... ORPHA:1802
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Coronal craniosynostosis, Micrognathia, Brachydactyly, Flat face, Genu valgum, Short f... OMIM:614078
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspond... OMIM:156530
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the fi... OMIM:313420
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Bone Dysplasia, Lethal Holmgren Type
Abnormality of femur morphology, Metaphyseal dysplasia, Failure to thrive, Joint dislocation, Sho... ORPHA:1842
Cranio-Osteoarthropathy
Joint stiffness, Joint swelling, Osteoarthritis, Eczema, Deviation of finger, Abnormality of tibi... ORPHA:1525
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Dysostosis Multiplex, Ain-Naz Type
Hemivertebrae, Wide humerus, Scoliosis, Coarse facial features, Glenoid fossa hypoplasia, Elongat... OMIM:619345
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint l... OMIM:130060
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, Platyspondyly, Micromelia, 11 pairs of ribs, Long foot, Single transverse palmar ... OMIM:210710
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, S... OMIM:201000
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Osteoarthritis, Brachydactyly, Limitation of joint mobility ORPHA:2762
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:600081
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Dermatoosteolysis, Kirghizian Type
Keratitis, Abnormality of the hand, Osteoarthritis, Brachydactyly, Scoliosis, Abnormality of the ... ORPHA:1657
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Hip o... OMIM:604864
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... ORPHA:2741
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Large face, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the... ORPHA:2831
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis OMIM:184840
Spondylocarpotarsal Synostosis Syndrome
Broad face, Block vertebrae, Vertebral segmentation defect, Epiphyseal dysplasia, Carpal synostos... OMIM:272460
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Ankle clonus, Atla... OMIM:600561
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... OMIM:615349
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Osteoarthritis, Obesity, Palmoplantar keratoderma ORPHA:2206
Chondrocalcinosis Due To Apatite Crystal Deposition
Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Chondrocalcinosis... OMIM:118610
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Adducted thumb, Short femur, Osteopenia, Flared ... OMIM:616897
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Small epiphyses, Round face, Short long bone, Advanced ossification of carpal bones,... OMIM:618363
Hypochondroplasia
Macrocephaly, Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Flared metaphysis, Bra... OMIM:146000
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Abnormal epiphysis morphology, Generalized bone demineralization, Premature osteoa... ORPHA:93352
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Hyperconvex verte... OMIM:184255
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Epiphyseal dysplasia, Micrognathia, Platyspondyly, Flat face, Genu... ORPHA:250984
Al-Raqad Syndrome
Inability to walk, Microcephaly, Brachydactyly, Sandal gap, Joint laxity, Unsteady gait, Flat face OMIM:616459
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu valgum, Round face, Coxa valga... OMIM:132450
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Osteoarthritis, Flattened metatarsal heads, Platyspondyly, Hip osteoa... OMIM:271600
Hand And Foot Deformity With Flat Facies
Metacarpophalangeal joint contracture, Abnormal foot morphology, Flat face, Contractures of the i... OMIM:139750
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... OMIM:166600
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Peripheral Dysostosis
Joint stiffness, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th fing... ORPHA:1795
Achondrogenesis Type 1A
Recurrent fractures, Macrocephaly, Multiple rib fractures, Micrognathia, Micromelia, Short foot, ... ORPHA:93299
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Fatigable weakness of swallowing muscles, Weakness of facial mus... ORPHA:596
Widow'S Peak Syndrome
Kyphosis, Recurrent patellar dislocation, Abnormality of the hand, High iliac wing, Arthralgia of... OMIM:314570
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Ataxia, Failure to thrive, Sea-blue histiocytosis, Beaking of vertebral bodies, ... OMIM:230600
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, Limited knee flexion/extension, EMG: myopathic abnormalit... ORPHA:266
Diastrophic Dysplasia
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... OMIM:222600
Emery-Nelson Syndrome
Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachydactyly, Abnormal thumb mor... ORPHA:1927
Achondrogenesis Type 1B
Macrocephaly, Talipes equinovarus, Micrognathia, Micromelia, Abnormal rib morphology, Short foot,... ORPHA:93298
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Type 2 muscle fiber atrophy, F... OMIM:605809
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Type 2 muscle fiber atrophy, F... OMIM:254210
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short long bone, Flexion contracture, Short humerus, Brachydactyly, Flat face, Bowed humerus, Tri... OMIM:619479
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Fatigable weakness, Prolonged miniature endplate currents, Limb musc... OMIM:603034
Myasthenic Syndrome, Congenital, 15
Multiple joint contractures, Fatigable weakness, Ptosis OMIM:616227
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... OMIM:249710
Short Rib-Polydactyly Syndrome
Cleft palate, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Respira... ORPHA:1505
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Congenital diaphragmatic hernia, Absent thumb, Bilateral talipes equinovarus, Hy... OMIM:618022
Intellectual Developmental Disorder, Autosomal Dominant 59
Macrocephaly, Brachydactyly, Short foot, Abnormal facial shape, Short palm, Facial hypotonia, Fla... OMIM:618522
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... OMIM:605820
Gombo Syndrome
Microcephaly, Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Congenital ... OMIM:255310
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Talipes equinovarus, Paucity of anterior horn motor neurons, Retrognat... OMIM:611890
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Epiphyseal dysplasia, Beaking of vertebral bodies, Lumbar hyperlordosis, Short m... OMIM:215150
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased endomysial connective tissue, Limitation of movement at ankles, Scapular winging, Incre... ORPHA:437572
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... ORPHA:50809
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Dyssegmental Dysplasia, Silverman-Handmaker Type
Talipes equinovarus, Micrognathia, Flat face, Anisospondyly, Bowing of the long bones, Short long... OMIM:224410
Slipped Femoral Capital Epiphyses
Hip osteoarthritis, Proximal femoral epiphysiolysis OMIM:182260
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... OMIM:307800
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Osteoarthritis Susceptibility 3
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... OMIM:607850
Dysostosis, Stanescu Type
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Macroglossia, M... ORPHA:1798
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
EEG abnormality, Gliosis, Abnormal upper motor neuron morphology, Peripheral demyelination, Axona... OMIM:221770
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Microretrognathia, Small for gestational age, Multiple rib fractures, Osteop... OMIM:616229
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Platyspondyly, Biconcave vertebral bodies, Upper limb undergrowth,... ORPHA:93315
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Paraspinal muscle hypertrophy, Lumbar hyperlordosis, Congenital foot contracture... OMIM:602484
Peroxisome Biogenesis Disorder 3A (Zellweger)
Flat face, Epiphyseal stippling OMIM:614859
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Fatigable weakne... OMIM:601462
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Limitation of joint mobility, Joint contracture of the han... OMIM:224400
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Depressed nasal ridge, Retrognathia, Micrognathia, Delayed cranial suture c... ORPHA:1832
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... OMIM:118200
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Macroc... ORPHA:140
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Platyspondyly, 11 pairs of ribs, Oval face, Gen... OMIM:271640
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination DECIPHER:59
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Peripheral Dysostosis
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:180800
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Micrognathia, Microcephaly, Rocker bottom foot, Arthrogryposis multiplex con... OMIM:616570
Thanatophoric Dysplasia Type 1
Joint stiffness, Wide anterior fontanel, Macrocephaly, Kyphosis, Short femur, Femoral bowing, Hyp... ORPHA:1860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Rib fusion, Aplasia/Hypoplasia of the tibia, Talipes eq... ORPHA:1988
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601098
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Skeletal muscle hypertrophy, Asym... ORPHA:3101
Rigid Spine Muscular Dystrophy 1
Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Flexion contrac... OMIM:602771
Thanatophoric Dysplasia
Joint stiffness, Kyphosis, Macrocephaly, Platyspondyly, Brachydactyly, Micromelia, Abnormal ilium... ORPHA:2655
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Flexion contracture, Micrognathia, Overlapping fingers, Congenital... OMIM:618291
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Reduced bone mineral... ORPHA:85435
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... ORPHA:75508
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... OMIM:609655
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Achondrogenesis, Type Ib
Short ribs, Hypoplastic ilia, Micromelia, Absent or minimally ossified vertebral bodies, Flat face OMIM:600972
Pelviscapular Dysplasia
Mesomelic leg shortening, Macrocephaly, Short femur, Hypoplastic ilia, Congenital hip dislocation... ORPHA:93333
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Reduced bone mineral density, Brachydactyly, Scoliosis, Abnormal ... ORPHA:2370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Small... OMIM:618484
Null Syndrome
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy, Abnormal... ORPHA:280234
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:241530
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... OMIM:183849
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Macrocephaly, Talipes equinovarus, Abnormal cartilage matrix, Hypoplastic... ORPHA:2347
Short Stature, Brussels Type
Delayed epiphyseal ossification, Macrocephaly, Microretrognathia, Calcification of cartilage, Tri... ORPHA:2867
Spondyloepiphyseal Dysplasia Congenita
Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Delayed calcaneal ossification, P... OMIM:183900
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Rhizomelic Chondrodysplasia Punctata, Type 5
Broad-based gait, Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, ... OMIM:616716
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thenar muscle atrophy, Abnormal bone ossification, Hypoplasia of the musculature, Eunuchoid habit... ORPHA:2463
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Optic atrophy, Centrally nucleated skeletal muscl... ORPHA:401768
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... OMIM:313400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Stickler Syndrome Type 1
Osteoarthritis, Platyspondyly, Abnormality of vertebral epiphysis morphology, Abnormal epiphysis ... ORPHA:90653
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Macrocephaly, Metaphyseal ... OMIM:300863
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Osteoporosis, Camptodactyly, Abnormal facial shape, Flat face OMIM:616006
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Fibrochondrogenesis 1
Platyspondyly, Rhizomelia, Posterior rib cupping, Dumbbell-shaped long bone, Short long bone, Wid... OMIM:228520
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Symmetrical progressive periphe... ORPHA:208981
Wiedemann-Steiner Syndrome
Broad-based gait, Failure to thrive, Short toe, Clinodactyly of the 5th finger, Short phalanx of ... OMIM:605130
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short neck, Micromelia, Severe platyspondyly, Short long bone, Cardiomegaly, Dysplastic sacrum, M... OMIM:613320
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Osteopathia Striata-Cranial Sclerosis Syndrome
Macrocephaly, Large iliac wing, Increased bone mineral density, Osteopetrosis, Delayed cranial su... ORPHA:2780
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal dysplasia, Macrocephaly, Metaphyseal irregularity, Flexion contracture, Ab... OMIM:613330
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Decreased miniature endplate potentials, Arthrogryposis multiplex co... OMIM:608930
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Broad... OMIM:311300
Trichorhinophalangeal Syndrome, Type I
Flat capital femoral epiphysis, Cone-shaped epiphyses of the middle phalanges of the hand, Osteop... OMIM:190350
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, From... OMIM:162500
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:605253
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Platyspo... OMIM:609324
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Microretrognathia, Arachnodactyly, Microcephaly, Camptodactyly of... ORPHA:2994
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular femoral epiphysis, Genu... OMIM:618728
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Broad face, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallux, Caudal in... ORPHA:439822
Alpha-Mannosidosis
Kyphosis, Macrocephaly, Macroglossia, Splenomegaly, Scoliosis, Coarse facial features, Chronic ot... ORPHA:61
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Femoral bowing, Fr... OMIM:602080
Stickler Syndrome, Type Iv
Epiphyseal dysplasia, Flat capital femoral epiphysis, Genu valgum, Flat face, Irregular capital f... OMIM:614134
16P13.11 Microduplication Syndrome
Pectus excavatum, Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, T... ORPHA:261243
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Hypertrophic Neuropathy Of Dejerine-Sottas
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... OMIM:145900
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis, Brachydactyly, Short thumb ORPHA:435804
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Loss of ambulation, Microphthalmia, Metaphyseal widening, ... ORPHA:2788
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Dyggve-Melchior-Clausen Disease
Inability to walk, Broad carpal bones, Platyspondyly, Abnormality of the ankles, Hypoplasia of th... ORPHA:239
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Short neck, Taper... ORPHA:251071
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis ORPHA:1937
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Macrocephaly, Craniosynostosis, Osteopenia, Talipes equinovalgus, Radioulnar synostosis, Single t... OMIM:130070
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphyseal widening, De... OMIM:618961
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Atelosteogenesis Type I
Talipes equinovarus, Joint dislocation, Abnormal ossification involving the femoral head and neck... ORPHA:1190
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... ORPHA:53697
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis, Broad thumb, R... OMIM:619638
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Limitation of joint mobility, Cachexia, Camptodactyly of finger, Micrognathia, Slender long bone,... ORPHA:2774
Rhizomelic Chondrodysplasia Punctata, Type 2
Irregular vertebral endplates, Failure to thrive, Flexion contracture, Osteopenia, Microcephaly, ... OMIM:222765
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Ptosis, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial ... OMIM:619566
Codas Syndrome
Coronal cleft vertebrae, Congenital hip dislocation, Brachydactyly, Joint hyperflexibility, Scoli... ORPHA:1458
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Platyspondyly, Abnormal rib morphology, Rhizomelia, Abnormal epiphysis morphology, ... ORPHA:93267
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Macrocephaly, Metaphyseal cupping, Severe limb shortening, Thin ribs, Decreased cranial base ossi... OMIM:151210
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Limitation of joint mobility, Talipes equinovarus, Flexion contracture, Short... ORPHA:1865
King-Denborough Syndrome
Failure to thrive, Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type ... OMIM:619542
Odontochondrodysplasia
Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Cone-shape... ORPHA:166272
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Genu recurvatum, Narrow face, Pes planus, Joint laxity, Bilateral microphthalmos, Hip dislocation... OMIM:608763
Benign Samaritan Congenital Myopathy
Epicanthus, Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Inability to walk, Congenital diaphragmatic hernia, Metatarsal osteo... OMIM:166300
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... OMIM:606483
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Triceps weakness, EMG: myopathic abnormalities, Facial palsy,... ORPHA:98913
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... ORPHA:970
Peroxisome Biogenesis Disorder 7A (Zellweger)
Wide anterior fontanel, Talipes equinovarus, Flat face, Epiphyseal stippling OMIM:614872
Fetal Trimethadione Syndrome
High palate, Abnormal helix morphology, Atrial septal defect, Overfolded helix, Micrognathia, Sco... ORPHA:1913
Diabetic Embryopathy
Vertebral segmentation defect, Hydrocephalus, Cleft palate, Microtia, Micrognathia, Aplasia/Hypop... ORPHA:1926
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Platyspondyly, Micromelia, Smal... OMIM:184260
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... ORPHA:603
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Osteoarthritis, Micrognathia ORPHA:166100
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ptosis ORPHA:270
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Craniosynostosis, Osteopenia, Metacarpophalangeal joint hyperextensibility, Platyspondyly, 11 pai... OMIM:245600
Mucopolysaccharidosis Type 7
Joint stiffness, Abnormal hip bone morphology, Splenomegaly, Anterior beaking of lumbar vertebrae... ORPHA:584
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Slender build, Flexion contracture, EMG: myopathic abnormalitie... ORPHA:171439
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Short toe, Narrow face, Long face, Microcephaly, Camptodactyly of... ORPHA:1327
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly... ORPHA:157965
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... ORPHA:56304
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... ORPHA:294975
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Failure to thrive, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:424107
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Knee dislocation, Type 1 muscle fiber predominance, Facial palsy, ... ORPHA:178145
Achondrogenesis, Type Ia
Bowing of the legs, Short clavicles, Talipes equinovarus, Severe limb shortening, Short ribs, Hyp... OMIM:200600
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Skin rash, Anemia, Scoliosis, Palmoplantar pustulosis, Inflammation of the large i... ORPHA:324964
Short Stature Syndrome, Brussels Type
Delayed epiphyseal ossification, Relative macrocephaly, Microretrognathia, Triangular face OMIM:601350
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Microcephal... OMIM:619489
Rhizomelic Syndrome, Urbach Type
High palate, Abnormality of the tongue, Cleft palate, Short neck, Abnormality of the humerus, Rhi... ORPHA:3098
Thanatophoric Dysplasia Type 2
Kyphosis, Macrocephaly, Platyspondyly, Brachydactyly, Joint hyperflexibility, Micromelia, Flat fa... ORPHA:93274
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Partial duplication of thumb phalanx, Broad palm, Abnormal hand morphology, Large for gestational... OMIM:601165
Laron Syndrome
Short toe, Micrognathia, Osteoarthritis, Brachydactyly, Truncal obesity, Abnormal facial shape, A... ORPHA:633
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies OMIM:609524
Mucolipidosis Type Iii
Joint stiffness, Large iliac wing, Reduced bone mineral density, Abnormal hip bone morphology, Ab... ORPHA:577
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Butterfly vertebrae, Talipes equinovarus, Short femur, Hypoplasia of the radiu... OMIM:607143
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... OMIM:607706
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ptosis, Ragged-red muscle fibers OMIM:609283
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Arthritis, Sacroiliac
Sacroiliac arthritis OMIM:108100
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Microcephaly, Hypoplasia of the ulna, Aplasia/Hypoplasia ... OMIM:612447
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia, Radioulnar ... OMIM:164900
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Malar flattening, Everted upper lip vermilion, Abnormality of the d... OMIM:182290
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Microcephaly, Polydactyly, Flat face OMIM:616910
Weiss-Kruszka Syndrome
Horizontal crus of helix, Bicuspid aortic valve, Protruding ear, Clinodactyly of the 5th finger, ... OMIM:618619
Craniofacial-Deafness-Hand Syndrome
Narrow face, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of finger, Ab... ORPHA:1529
Abruzzo-Erickson Syndrome
Short toe, Brachydactyly, Ulnar deviation of finger, Radioulnar synostosis, Flat face, Toe syndac... ORPHA:921
Larsen Syndrome
Short distal phalanx of finger, Laryngotracheomalacia, Vertebral segmentation defect, Large joint... ORPHA:503
Achondrogenesis
Macrocephaly, Micrognathia, Micromelia, Abnormality of bone mineral density, Abnormal enchondral ... ORPHA:932
Osteogenesis Imperfecta, Type Xxi
Coxa vara, Bowing of the legs, Recurrent fractures, Bowing of the arm, Platyspondyly, Osteoporosi... OMIM:619131
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Flared metaphysis, Plat... OMIM:601561
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Atopic dermatitis, Congenital hip dislocation, Scoliosis, Limited elbow ext... OMIM:619719
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Uveitis, Ankle swelling, Knee osteoarthritis, Enthesitis, Weight loss, Joint stiff... ORPHA:85408
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... OMIM:618000
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... OMIM:601438
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Micrognathia, Ventricular septal de... OMIM:231060
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Myopathy, Centronuclear, 2
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... OMIM:255200
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... OMIM:612474
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Bone cyst, Macroglossia, Abnormal tendon morphology, Abnormal... ORPHA:85446
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Arthrogryposis, Distal, Type 2B2
Short toe, Talipes equinovarus, Adducted thumb, Talipes equinovalgus, Overlapping fingers, Brachy... OMIM:618435
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Macrocephaly, Abnormal hip bone morphology, Broad distal phalanx ... ORPHA:93430
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Macrocephaly, Long face, Facial asymmetry, Micrognathi... ORPHA:1777
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Platyspondyly, Micromelia, Genu valgum, Abnormal epiphysis morphol... ORPHA:800
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Os... ORPHA:2771
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... OMIM:226900
Maxillonasal Dysplasia
Short distal phalanx of finger, Vertebral clefting, Scoliosis, Patchy distortion of vertebrae, Fl... ORPHA:1248
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs, Osteoarthritis ORPHA:66630
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Macrocephaly, Femoral bowing, Short 1st metacarpal, 11 pairs ... OMIM:114290
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Long face, Micrognathia, Brachydactyly, Camptodactyly, Clinodactyly, Flat face OMIM:613604
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Ververi-Brady Syndrome
High palate, Metaphyseal irregularity, Wide mouth, Clinodactyly of the 5th finger, Everted lower ... OMIM:617982
Osteogenesis Imperfecta
Abnormality of femur morphology, Ataxia, Macrocephaly, Femoral bowing, Osteopenia, Micromelia, Bi... ORPHA:666
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Decreased body weight, Increased bone mineral density, Ar... OMIM:614856
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Osteopenia, Talipes equino... ORPHA:536471
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Failure to thrive, Small for gestational age, Camptod... ORPHA:1617
Chromosome 18Q Deletion Syndrome
Cleft palate, Short philtrum, Short neck, Ventricular septal defect, Umbilical hernia, Rocker bot... OMIM:601808
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Depressed nasal bridge, Brachydactyly, Sc... ORPHA:40
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal femoral neck/head morphology, Wide anterior fontanel, Abnormal bone ossification, Slende... ORPHA:163649
Nemaline Myopathy 2
Slender build, Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopath... OMIM:256030
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Hip dislocation, Scapular wi... OMIM:616471
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c... ORPHA:1306
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Lethal Recessive Chondrodysplasia
Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbo... ORPHA:1423
Myasthenic Syndrome, Congenital, 14
Flexion contracture, Limb-girdle muscle weakness, Fatigable weakness, Ragged-red muscle fibers, S... OMIM:616228
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... ORPHA:93359
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Glio... OMIM:604484
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Kyphoscoliosis, Stippled calcification in carpal bones, Postaxial polydactyly,... OMIM:302960
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... OMIM:108720
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... OMIM:610967
Larsen-Like Syndrome
Wide anterior fontanel, Clinodactyly of the 5th finger, Macrocephaly, Talipes equinovarus, Kyphos... OMIM:608545
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... OMIM:619477
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... ORPHA:1570
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Catel-Manzke Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Atrial septal defect, Pectus excavatum, Radial d... ORPHA:1388
Proximal 16P11.2 Microduplication Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Arachnodactyly, Hemivertebrae, Microcephaly, ... ORPHA:370079
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... OMIM:184252
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... OMIM:605588
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Decreased palmar creases, Bilateral talipes equinovarus, Contracture of the proximal interphalang... OMIM:612394
Primary Ciliary Dyskinesia
Hydrocephalus, Anomalous pulmonary venous return, Airway obstruction, Chronic sinusitis, Polysple... ORPHA:244
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Myopathy, Myofibrillar, 8
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Limb muscle weakness, Gen... OMIM:617258
Monosomy 18Q
High palate, Wide mouth, Hydrocephalus, Pectus excavatum, Short philtrum, Bilateral conductive he... ORPHA:1600
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, Tr... OMIM:616583
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Talipes equinovarus, Microcephaly, Camptodactyly, Round face, Flat face OMIM:617333
Kniest Dysplasia
Enlarged joints, Respiratory distress, Depressed nasal bridge, Short neck, Platyspondyly, Hypopla... OMIM:156550
Arthrogryposis, Distal, Type 2A
Flexion contracture of finger, Rocker bottom foot, Talipes equinovarus, Joint dislocation, Scolio... OMIM:193700
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Loss of ambulation, Hypogly... ORPHA:370968
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... OMIM:606070
Marfanoid Mental Retardation Syndrome, Autosomal
Arachnodactyly, Flat face OMIM:248770
Achondroplasia
Hydrocephalus, Depressed nasal bridge, Rhizomelia, Short nasal bridge, Short long bone, Spinal ca... ORPHA:15
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Facial palsy, Torus palatinus, Clavicular sclerosis, Abnormal f... ORPHA:2790
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Rhizomelic arm... OMIM:223800
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... OMIM:601382
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Congenital hip dislocation, Joint laxity, Joint hypermobility, Flat face, Congenital knee disloca... OMIM:601450
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Kyphosis, Thin ribs, Micrognathia, De... OMIM:259420
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Small hand, Osteopenia, Facial asymmetry, Broad femoral neck, Spina b... ORPHA:488434
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Ataxia, Dysmetria, Micrognathia, Camptodactyly of finger, Acute rhabdomyolysis, Osteopo... ORPHA:48431
Stickler Syndrome, Type I
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Arachnodactyly, Micrognathia, Osteoarthri... OMIM:108300
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coronal cleft vertebrae, Coarse... ORPHA:1952
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... ORPHA:457050
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Failure to thrive, Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Hypopl... OMIM:602613
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Slender finger, Increased laxity of fingers, Flexion contracture, Adducted thumb, Micro... ORPHA:75840
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Talipes equinovarus, Splenomegaly, Stippled chondral calcification, Micrognath... OMIM:614866
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Acromesomelic Dysplasia 4
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Prominent deltoi... OMIM:619636
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal pinna morphology, Pectus excavatum, Osteopenia, Thoracic kyphoscoliosis, Aortic dissecti... ORPHA:1900
Legg-Calvé-Perthes Disease
Cartilage destruction, Joint dislocation ORPHA:2380
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Small cervical vertebral b... OMIM:135100
Distal Arthrogryposis Type 1
Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlappi... ORPHA:1146
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Coxa vara, Flattened metacarpal heads, Flattened metatarsal heads, Constrictive pericarditis, Con... OMIM:208250
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Marinesco-Sjogren Syndrome
Failure to thrive, Flexion contracture, Rimmed vacuoles, Cubitus valgus, Centrally nucleated skel... OMIM:248800
Acromicric Dysplasia
Joint stiffness, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Bulbous nose... ORPHA:969
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... OMIM:255160
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:311070
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Decreased number of peripheral myelinated nerve... OMIM:604563
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Lateral Meningocele Syndrome
High palate, Pectus excavatum, Short neck, Biconcave vertebral bodies, Umbilical hernia, Abnormal... OMIM:130720
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Ollier Disease
Joint stiffness, Platyspondyly, Micromelia, Osteolysis, Abnormal cartilage morphology, Abnormal m... ORPHA:296
Kniest-Like Dysplasia, Lethal
Metaphyseal irregularity, Wide anterior fontanel, Hypoplastic vertebral bodies, Relative macrocep... OMIM:245190
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... ORPHA:289157
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Micrognathia, Scoliosis, Tetralogy of Fallot, Ventricular s... ORPHA:1727
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular cana... OMIM:306955
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Talipes equinovarus, Macroglossia, Everted lower lip vermilion, Open mouth, Short nec... OMIM:616789
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Radial deviation of the 2nd finger, Femoral bowing, Depressed nasal bridge, Congen... OMIM:304120
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Microcephaly, Eczema, Brachydactyly, Abnormal facial shape, Obesity, Pat... ORPHA:464288
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Retrognathia, Small hand, Broad finger, Short phalanx of finger, Abnormal le... OMIM:300845
Hyperekplexia 4
Kyphoscoliosis, Talipes equinovarus, Flexion contracture, Adducted thumb, Camptodactyly, Distal a... OMIM:618011
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Hepatomegaly, P... OMIM:253010
Multiminicore Myopathy
Failure to thrive, Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Min... ORPHA:598
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... OMIM:271630
Orofaciodigital Syndrome Xv
Broad hallux, Flat face, Postaxial polydactyly OMIM:617127
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal femoral neck/head morphology, Oligoarthritis, Abnormal metatarsal morphology, Limited mo... ORPHA:85438
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Failure to thrive, EMG: myopathic abnormalities, Diaphragmatic eventration... OMIM:614399
Hypophosphatasia, Infantile
Bowing of the legs, Stillbirth, Metaphyseal cupping, Apnea, Widely patent fontanelles and sutures... OMIM:241500
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Facial asymmetry, Synostosis of carpal bones, Symphalangism affec... ORPHA:710
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Tooth agenesis, Micrognathia, Brachydactyly, Long thorax, Mesom... ORPHA:1277
Simpson-Golabi-Behmel Syndrome, Type 1
Posterior helix pit, Hydrocephalus, Pectus excavatum, Short sternum, Hepatomegaly, Hepatoblastoma... OMIM:312870
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Mucolipidosis Ii Alpha/Beta
Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Varus deformity of humeral nec... OMIM:252500
Intellectual Developmental Disorder, Autosomal Dominant 66
Clinodactyly of the 5th finger, Secundum atrial septal defect, Toe clinodactyly, Pectus excavatum... OMIM:619910
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... OMIM:102370
Alpha-Mannosidosis, Infantile Form
Ataxia, Macrocephaly, Craniosynostosis, Otitis media, Osteopenia, Platyspondyly, Genu valgum, Ost... ORPHA:309282
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of all distal pha... OMIM:616809
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, High palate, Hydrocephalus, Prominent fingertip pads, Sandal gap, Anteriorl... OMIM:612863
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Accessory oral frenu... ORPHA:79113
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... ORPHA:163665
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Skeletal muscle hypertrophy, Micrognathia, Scoliosis, Genu va... ORPHA:314795
Hypophosphatemic Rickets, X-Linked Recessive
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:300554
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials, Ptosis OMIM:616321
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Macrocephaly, Rieger anomaly, Hip dislocation, Coxa valga, Flat face OMIM:109120
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Diaphy... OMIM:231095
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Kyphoscoliosis, Decreased body weight, Adducted thumb, Micrognathia, Micr... OMIM:610758
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Abnormal hip bone morphology, Camptodactyly of finger, Abnormal me... ORPHA:2631
Trisomy 8P
Multiple joint contractures, Hydrocephalus, Cleft palate, Short fourth metatarsal, Clinodactyly o... ORPHA:264450
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex c... OMIM:208081
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... ORPHA:2635
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395