Gene Summary

Name:
ski sarcoma viral oncogene homolog (avian)
Synonyms:
2310012I02Rik,  2610001A11Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Skiem1(IMPC)Bay HOM   Early adult 0.00
decreased locomotor activity Skiem1(IMPC)Bay HET Early adult 7.20×10-06
limb grasping Skiem1(IMPC)Bay HET Early adult 4.49×10-05

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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 Ski 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 associated to Ski by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip OMIM:600776
Sprengel Deformity
Cleft palate, Shoulder muscle hypoplasia, Torticollis, Abnormality of the shoulder girdle muscula... ORPHA:3181
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Camptodactyly Syndrome, Guadalajara Type 1
Abnormal form of the vertebral bodies, Highly arched eyebrow, Short distal phalanx of finger, Int... ORPHA:1327
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Hypoplasia of the musculature, Micrognathia, Neonatal death, S... OMIM:253310
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Umbilical hernia, Quadrice... OMIM:255800
Frontometaphyseal Dysplasia
Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Short metacarpal, Broa... ORPHA:1826
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Rhizomelia, Flared metaphysis, Epiphyseal stippling, Micrognathia, Cleft palate, ... OMIM:215100
Carey-Fineman-Ziter Syndrome 1
Retrognathia, Spinal rigidity, Pectoralis hypoplasia, Weakness of facial musculature, Hypoplasia ... OMIM:254940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Holoprosencephaly, Bilateral cleft... OMIM:601357
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hypoplasia of the musculature, Hydrocephalus, Pterygium, Micrognathia, Joint con... OMIM:225790
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Increased arm span, Thin metacarpal cortices, Lumbar hemivertebrae, Abnormality of the palpebral ... ORPHA:2463
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Spinal rigidity, Long face, Scoliosis, Elbow flexion contracture, Limb muscle weakn... OMIM:620369
Tetrasomy 5P
Congestive heart failure, Clinodactyly of the 5th finger, Short hallux, Hydrocephalus, Wide anter... ORPHA:3309
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Small epiphyses, Scoliosis, Short long bone, Lumbar scoliosis, Cleft palate, Flat f... OMIM:620269
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bifida, Cleft pa... ORPHA:1104
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Rhizomelia, Abnormal form of the vertebral bodies, Mandibular prognathia, Hyperlordo... ORPHA:2831
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Downslanted palpebral fissures, ... ORPHA:2994
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
3Mc Syndrome 2
Limited elbow movement, Caudal appendage, Abnormal vertebral morphology, Torticollis, Abnormality... OMIM:265050
Unilateral Ocular Duplication
Midline facial cleft, Cleft palate, Encephalocele ORPHA:3374
Maxillonasal Dysplasia
Patchy distortion of vertebrae, Mandibular prognathia, Scoliosis, Vertebral clefting, Hypoplasia ... ORPHA:1248
Larsen-Like Syndrome
Kyphoscoliosis, Clinodactyly of the 5th finger, Wide anterior fontanel, Radial deviation of the 4... OMIM:608545
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Intrauterine growth retardation, Cone-shaped epiphysis, Cauda... ORPHA:439822
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate OMIM:600251
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Adducted thumb, Torticollis, Long toe, Scoliosis, Elbow flexion contracture, EMG... ORPHA:75840
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Abnormal vertebral morphology, Abnormality of the vertebral column, 2-3 toe syndac... OMIM:239800
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Dumbbell-shaped long bone, Hypoplastic ischia, Fib... OMIM:228520
Sprengel Deformity
Neck muscle hypoplasia, Shoulder muscle hypoplasia, Spina bifida occulta OMIM:184400
Autosomal Recessive Stickler Syndrome
Genu valgum, Platyspondyly, Abnormal epiphysis morphology, Epiphyseal dysplasia, Micrognathia, Cl... ORPHA:250984
Marinesco-Sjögren Syndrome
Muscular dystrophy, Abnormal metacarpal morphology, Scoliosis, Aplasia/Hypoplasia involving the s... ORPHA:559
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Adducted thumb, Encephalocele, Hydrocephalus, Round face, Short lon... OMIM:224400
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Left ventricular systolic dysfunction, Scoliosis, Incisor macrodontia, C... OMIM:619719
Wiedemann-Steiner Syndrome
Broad lateral eyebrow, Highly arched eyebrow, Contracture of the distal interphalangeal joint of ... OMIM:605130
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Pterygium, Hydrocephalus, Clubbing of fingers, Hypoplastic pubic bone, Short long ... ORPHA:1865
Distal Monosomy 7Q36
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Non-midline cleft of ... ORPHA:1636
Congenital Myopathy 20
Short finger, Scoliosis, Scapular winging, Nemaline bodies, Congenital contracture, Narrow face, ... OMIM:620310
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Intervertebral space narrowing, Irr... OMIM:614078
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Rocker bottom foot, Flexion contracture of toe, Wrist flexion contracture, Flexio... OMIM:193700
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Cone-shaped e... ORPHA:950
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Flat acetabular roof, Bowi... ORPHA:1801
Craniofacial-Deafness-Hand Syndrome
Abnormality of the wrist, Lacrimal duct atresia, Narrow face, Hypoplasia of the maxilla, Camptoda... ORPHA:1529
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Small epiphyses, Flared metaphysis, Hypoplastic pub... ORPHA:93346
Blepharophimosis-Impaired Intellectual Development Syndrome
Narrow palpebral fissure, Clinodactyly of the 5th finger, Highly arched eyebrow, Scoliosis, Hip d... OMIM:619293
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Abnormally ossified vertebrae, Short metacarpal, Dumbbell-shaped femur... ORPHA:1427
Oculomaxillofacial Dysostosis
Tessier cleft, Sparse or absent eyelashes, Abnormal eyelid morphology, Abnormal eyelash morpholog... ORPHA:1794
Intellectual Developmental Disorder, Autosomal Dominant 59
Sacral dimple, Facial hypotonia, Highly arched eyebrow, Long palpebral fissure, Short palm, Brach... OMIM:618522
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormality of the vertebral column, Cleft... ORPHA:294975
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Gne Myopathy
Hip flexor weakness, Limited wrist extension, Muscle fiber inclusion bodies, Lower limb amyotroph... ORPHA:602
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate... OMIM:268310
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Telecanthus, Abnormality of the vertebral column, Hydrocephalus, Hypo... OMIM:109120
Chromosome 5Q12 Deletion Syndrome
Sacral dimple, Hypotension, Long palpebral fissure, Ptosis, Micrognathia, Long fingers, Epicanthu... OMIM:615668
Myopathy, X-Linked, With Postural Muscle Atrophy
Spinal rigidity, Skeletal muscle hypertrophy, Scoliosis, Rimmed vacuoles, Scapular winging, EMG: ... OMIM:300696
Acrofacial Dysostosis, Catania Type
Tessier cleft, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Spina ... ORPHA:1786
Childhood-Onset Nemaline Myopathy
Spinal rigidity, Generalized limb muscle atrophy, Long face, Scoliosis, Facial diplegia, Cardiomy... ORPHA:171439
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short palpebral fissure, Long face, Single transverse palmar crease, Intrauterine growth retardat... OMIM:613604
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the musculature, Mandibular prognathia, Scoliosis, Abnormal size of the palpebral f... ORPHA:1101
Neu-Laxova Syndrome
Retrognathia, Muscular dystrophy, Pterygium, Scoliosis, Aplasia/Hypoplasia involving the skeletal... ORPHA:2671
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, Spina bifida occulta, Delayed eruption of teeth, Sc... ORPHA:2780
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Stillbirth, Hypoplastic ilia, Micromelia, Malar fl... OMIM:600972
Intellectual Developmental Disorder, Autosomal Recessive 45
Retrognathia, Highly arched eyebrow, Round face, Synophrys, Downslanted palpebral fissures, Thick... OMIM:615979
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Scoliosis, Calf muscle hypertrophy, Cardiomy... OMIM:608099
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Adducted thumb, Platyspondyly, Telecanthus, Flared metaphysis, Hypertrophic cardiomyopathy, Decre... OMIM:616897
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Amyoplasia, Abnormal facial shape, Micrognathia, Cleft palate, A... OMIM:312150
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Pterygium, Short long bone, Bowing of the long bones, Anisospondyly, Mic... OMIM:224410
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Spinal rigidity, Wolff-Parkinson-White syndrome, Proximal muscle weakness in ... OMIM:619566
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal... ORPHA:306542
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Platyspondyly, Short greater sciatic notch, Hydrocephalus, Wide a... ORPHA:1860
Codas Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo... ORPHA:1458
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Ty... OMIM:619042
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Retrognathia, Skeletal muscle atrophy, Epicanthus ORPHA:85323
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Supernumerary Nostril
Tessier cleft ORPHA:141096
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Spinal rigidity, Scoliosis, Wrist flexion contracture, Nemaline bodies, Limb-gird... OMIM:620386
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis... ORPHA:177
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Mandibular prognathia, Hyperlordosis, Synostos... ORPHA:710
Vulto-Van Silfhout-De Vries Syndrome
2-3 toe cutaneous syndactyly, Sacral dimple, Mandibular prognathia, Prominent fingertip pads, Hor... OMIM:615828
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Platyspondyly, Flared metaphysis, Wide anterior fontanel, Mesomelic/... ORPHA:2347
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Bilateral ptosis, Clinodactyly of the 5th finger, Highly arched eyebrow, Single transverse palmar... OMIM:614701
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Cervical myelopathy, Platyspondyly, Delayed pubic bone ossification, Dela... OMIM:183900
Multiple Pterygium Syndrome, Lethal Type
Short finger, Multiple pterygia, Amyoplasia, Abnormal facial shape, Micrognathia, Cleft palate, A... OMIM:253290
Campomelic Dysplasia
Kyphoscoliosis, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Short long bone, ... OMIM:114290
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Talipes equinovarus, H... ORPHA:2020
Marden-Walker Syndrome
Retrognathia, Abnormal form of the vertebral bodies, Kyphosis, Arachnodactyly, Intrauterine growt... ORPHA:2461
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Round face, Intrauterine growth retardation, Camptodactyly, Ptos... OMIM:617333
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Scoliosis, Distal upp... OMIM:620068
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Rimmed vacuoles, Kyphosis, Increased variability in mu... OMIM:300718
Stickler Syndrome, Type Iv
Genu valgum, Platyspondyly, Intervertebral space narrowing, Flat capital femoral epiphysis, Hypop... OMIM:614134
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Platyspondyly, Abnormal ilium morphology, Hydrocephalus, Kyphosis... ORPHA:2655
Wrinkly Skin Syndrome
Deep palmar crease, Delayed eruption of teeth, Hypoplasia of the musculature, Wide anterior fonta... OMIM:278250
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Scoliosis, Death in adolescence, Increased variability in muscle fiber diameter,... OMIM:300717
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Short long bone, Flat acetabular roof, Abnormally ossifi... ORPHA:94068
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Orofaciodigital Syndrome Type 10
Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Fibular aplasia, Tarsa... ORPHA:2756
Alg9-Cdg
Narrow greater sciatic notch, Rhizomelia, Torticollis, Telecanthus, Flared metaphysis, Hypoplasia... ORPHA:79328
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia, Metaphyseal... OMIM:151210
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Hyperlordosis, Abnormally ossified vertebrae, Kyphos... ORPHA:800
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb muscle weakness, Lower limb amyotrophy, Amyotrophy of ankle musculature, Intrin... ORPHA:90103
Desbuquois Dysplasia 2
Round face, Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Intrauterine gr... OMIM:615777
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Platyspondyly, Scoliosis, Elbow flexion contracture, Intrauterine growth retardation, Shallow orb... OMIM:612394
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Scoliosis, Hemivertebrae, Sparse eyelashes, Arachnodactyly, Spar... ORPHA:370079
Mosaic Trisomy 9
Tessier cleft, Rocker bottom foot, Finger clinodactyly, Deep palmar crease, Scoliosis, Hemiverteb... ORPHA:99776
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Left ve... OMIM:245600
Bethlem Myopathy 2
Scoliosis, Scapular winging, Kyphosis, Increased variability in muscle fiber diameter, Flexion co... OMIM:616471
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Fatty replacement of skeletal muscle, Rimmed vacuoles, S... OMIM:619733
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Highly arched eyebrow, Short clavicles, Mandibular prognathia, Abnormal fac... ORPHA:401923
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Platyspondyly, Irregular epiphyses, Dyspla... OMIM:608728
Cutis Laxa, Autosomal Recessive, Type Iia
Wide anterior fontanel, Scoliosis, Congenital hip dislocation, Carious teeth, Downslanted palpebr... OMIM:219200
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Butterfly vertebral arch, Abnormal form o... ORPHA:52
Nemaline Myopathy 2
Spinal rigidity, Hyperlordosis, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type 1 mu... OMIM:256030
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Abnormal dental enamel morphology, Scoliosis, Hyperlordosis, Abno... ORPHA:1798
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Kyphoscoliosis, Round face, Intrauterine growth retardation, Clinodactyly, Medial flaring of the ... OMIM:620494
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Hammertoe, Scoliosis, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, In... OMIM:620542
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Short long bone, Broad thumb, M... OMIM:180700
Abruzzo-Erickson Syndrome
Cleft palate, Short toe, Malar flattening, Epicanthus, Radioulnar synostosis, Flat face, Toe synd... ORPHA:921
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Cleft palate, Ethmoidal encephalocele OMIM:607597
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Slender metacarpals, Metaphyseal irregularity, Genu varum, Hip dislocat... ORPHA:93360
Arthrogryposis, Distal, Type 2B3
Triangular face, Scoliosis, Camptodactyly, Ptosis, Downslanted palpebral fissures, Ulnar deviatio... OMIM:618436
Myopathy, Distal, 1
Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis anterior muscle atrophy, Sc... OMIM:160500
Achondrogenesis Type 1B
Micromelia, Micrognathia, Umbilical hernia, Flat face, Short neck, Short foot, Talipes equinovarus ORPHA:93298
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Tessier cleft, Orofacial cleft, Hydrocephalus, Foot polydactyly,... ORPHA:268249
Achondrogenesis Type 1A
Micromelia, Short palm, Micrognathia, Umbilical hernia, Flat face, Short neck, Short foot ORPHA:93299
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Limb undergrowth, Flat face, Bowing of the legs, Lumbar hyperlordosis ORPHA:156728
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Myasthenic Syndrome, Congenital, 14
Weakness of facial musculature, Ragged-red muscle fibers, Scoliosis, Hyperlordosis, Scapular wing... OMIM:616228
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Platyspondyly, Encephalocele, Hydrocephalus, Kyphosis, Micromelia... ORPHA:93274
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Scoliosis, Calf musc... OMIM:611705
Apert Syndrome
Delayed eruption of teeth, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Mandibular prognathia,... ORPHA:87
Peroxisome Biogenesis Disorder 7A (Zellweger)
Epiphyseal stippling, Wide anterior fontanel, Death in infancy, Flat face, Talipes equinovarus OMIM:614872
Congenital Myopathy 22A, Classic
Bilateral ptosis, Spinal rigidity, Bradycardia, Kyphosis, Congenital finger flexion contractures,... OMIM:620351
Emery-Nelson Syndrome
Abnormal thumb morphology, Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachy... ORPHA:1927
Camptodactyly Syndrome, Guadalajara Type 3
Retrognathia, Distal shortening of limbs, Spina bifida occulta, Telecanthus, Small hand, Sternocl... ORPHA:488434
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Flat face, Short neck, Bilateral cleft lip, Thoracic scoliosis OMIM:616994
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab... ORPHA:536471
Achondrogenesis
Micromelia, Micrognathia, Umbilical hernia, Flat face, Short neck ORPHA:932
Camptodactyly Syndrome, Guadalajara, Type Iii
Retrognathia, Torticollis, Spina bifida occulta, Telecanthus, Absent phalangeal crease, Camptodac... OMIM:611929
Developmental And Epileptic Encephalopathy 89
Death in childhood, Highly arched eyebrow, Scoliosis, Downslanted palpebral fissures, Sparse eyeb... OMIM:619124
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Scoliosis, Nemaline bodies, Con... OMIM:117000
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Scoliosis, Abnormal Z disk... OMIM:618654
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Scoliosis, Hyperlordosis, Calf muscle hypertro... OMIM:617760
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Tessier cleft, Orofacial cleft, Hydrocephalus, Finger syndactyly... ORPHA:1647
Jawad Syndrome
Retrognathia, Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th fing... OMIM:251255
Bartsocas-Papas Syndrome 1
Ectropion, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Ablepharon, Absent thumb, Synd... OMIM:263650
Blepharocheilodontic Syndrome 1
Neural tube defect, Euryblepharon, Distichiasis, Ectropion of lower eyelids, Lagophthalmos, Flat ... OMIM:119580
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne... OMIM:181400
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Patellar hypoplasia, Short fourth metatarsal, Abnormal facial shape, Dacryocystitis... ORPHA:464288
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Congenital finger flexion contractures, Adducted thumb, ... ORPHA:536516
Dominant Beta-Thalassemia
Genu valgum, Hypoplasia of the musculature, Bowing of the long bones, Arrhythmia, Dilated cardiom... ORPHA:231226
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Palmoplantar keratoderma, Absent frontal sinuses, Round face, Epicanthus, Flat face ORPHA:2536
Nemaline Myopathy 5C, Autosomal Dominant
Pelvic girdle muscle weakness, Long face, Scoliosis, Hyperlordosis, Scapular winging, Nemaline bo... OMIM:620389
Myopathy, Myofibrillar, 8
Spinal rigidity, Joint contracture of the 5th finger, Central core regions in muscle fibers, Long... OMIM:617258
16P11.2P12.2 Microdeletion Syndrome
Bilateral single transverse palmar creases, Orofacial cleft, Proximal placement of thumb, Long fa... ORPHA:261211
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Scoliosis, Absent dorsal skin creases over affecte... OMIM:618167
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Long face, Upper limb muscle weakness, Nemaline bodies, Narrow ... ORPHA:171442
Peroxisome Biogenesis Disorder 3A (Zellweger)
Flat face, Wide anterior fontanel, Epiphyseal stippling OMIM:614859
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Loeys-Dietz Syndrome 1
Retrognathia, Spondylolisthesis, Hypoplasia of the musculature, Hydrocephalus, Scoliosis, Postaxi... OMIM:609192
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of orbicularis ocu... OMIM:500002
Joubert Syndrome 18
Kyphoscoliosis, Retrognathia, Occipital encephalocele, Bowing of the long bones, Camptodactyly, P... OMIM:614815
Flat Face-Microstomia-Ear Anomaly Syndrome
Telecanthus, Highly arched eyebrow, Long face, Scoliosis, Camptodactyly of finger, Micrognathia, ... ORPHA:1968
Trisomy 12P
Clinodactyly of the 5th finger, Micrognathia, Cleft palate, Thick eyebrow, Malar flattening, Epic... ORPHA:1699
Frontofacionasal Dysplasia
Tessier cleft, Upper eyelid coloboma, Encephalocele, Telecanthus, Absent inner eyelashes, Non-mid... ORPHA:1791
Anencephaly 2
Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate OMIM:613456
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Hammertoe, Scoliosis, Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber ... OMIM:608340
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Oval face, Dislocated radial head, Short long bon... OMIM:271640
Arthrogryposis, Distal, Type 2B1
Rocker bottom foot, Triangular face, Scoliosis, Mandibular prognathia, Ulnar deviation of the han... OMIM:601680
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Hyperlordosis, Scapular winging, Back pain, Increased variability in musc... OMIM:618129
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas... ORPHA:266
Oculopharyngeal Muscular Dystrophy
Spondylolisthesis, Ragged-red muscle fibers, Rimmed vacuoles, Ptosis, Abnormal muscle fiber morph... ORPHA:270
Congenital Myopathy 10A, Severe Variant
Scoliosis, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Camptodactyly of fi... OMIM:614399
Typical Nemaline Myopathy
Spinal rigidity, Hyperlordosis, Facial diplegia, Kyphosis, Limb-girdle muscle weakness, Myopathy,... ORPHA:171436
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcificatio... OMIM:302960
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scoliosis, Scapular winging, Congenital contracture, Increased var... OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Spinal rigidity, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG:... OMIM:608423
Congenital Myopathy 4A, Autosomal Dominant
Long face, Scoliosis, Facial palsy, Narrow face, Congenital hip dislocation, Type 1 fibers relati... OMIM:255310
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle weakness, Facial pal... OMIM:167320
Congenital Myopathy 19
Triangular face, Facial hypotonia, Scoliosis, Congenital contracture, Ptosis, Micrognathia, Skele... OMIM:618578
Three M Syndrome 1
Increased vertebral height, Triangular face, Clinodactyly of the 5th finger, Spina bifida occulta... OMIM:273750
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Spinal rigidity, Scoliosis, Calf muscle hypertrophy, Cardiomyopathy, Triceps ... ORPHA:86812
Progressive Non-Infectious Anterior Vertebral Fusion
Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Pr... ORPHA:2062
Oculopharyngeal Muscular Dystrophy 1
Ragged-red muscle fibers, Facial palsy, Limb muscle weakness, Ptosis, Progressive ptosis OMIM:164300
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Limited elbow movement, Proximal placement of thumb, Highly arched eyebrow, Pulmonic stenosis, Sh... OMIM:610759
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Decreased movemen... OMIM:609115
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Bilateral single transverse palmar creases, Telecanthus, Mandibular prognathia, Sc... ORPHA:1236
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Dis... OMIM:617030
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Encephalocele, Telecanthus, Midline facial cleft, Ptosis, Downslanted palpeb... OMIM:603671
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Bilateral single transverse palmar creases, Retrognathia, Spina bifida occulta, Delayed eruption ... OMIM:235510
Apert Syndrome
Limited elbow movement, Shallow orbits, Broad thumb, Syndactyly, Hydrocephalus, Postaxial hand po... OMIM:101200
Larsen Syndrome
Spondylolysis, Multiple carpal ossification centers, Short metacarpal, Shallow orbits, Dislocated... OMIM:150250
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Right axis deviation, ... OMIM:255160
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Round face, Death in adolescence, Death in infancy, Colpocephaly, Heart murmur, ... OMIM:614866
Grant Syndrome
Bowing of the long bones, Abnormal pelvic girdle bone morphology, Micrognathia, Large face, Flat ... ORPHA:2097
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Beta-Thalassemia Major
Genu valgum, Hypoplasia of the musculature, Bowing of the long bones, Arrhythmia, Dilated cardiom... ORPHA:231214
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Long face, Scoliosis, Calf muscle hypertrophy, Calf muscle... ORPHA:353
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
20Q11.2 Microduplication Syndrome
Limited elbow extension, Retrognathia, Palpebral edema, Sacral dimple, Triangular face, Deep palm... ORPHA:363659
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Biconvex vertebral bodies, Hypoplastic iliac wing, Tibial bowing, Short long bone, Biconcave vert... ORPHA:93315
Bone Dysplasia, Lethal Holmgren Type
Abnormality of the hand, Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnorm... ORPHA:1842
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Hydrocephalus, Postaxial hand polydactyly, 3-4 finger s... OMIM:175700
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Shor... OMIM:170390
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Bilateral talipes equinovarus, Increased variability in musc... OMIM:618484
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Abnormality of skeletal muscle fiber size, Weakness of facial musculature, Lo... OMIM:620278
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Mic... OMIM:300580
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis, Scapular winging, Facial palsy, Nemaline bodies, Increased variability ... OMIM:616852
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Clinodactyly of the 5th finger, Postaxial hand polydac... ORPHA:952
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus... OMIM:620402
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs OMIM:616209
3Mc Syndrome 3
Tessier cleft, Preaxial polydactyly, Sacral dimple, Highly arched eyebrow, Diastasis recti, Ptosi... OMIM:248340
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Death in childhood, Cubitus valgus, Epiphyseal stippling, Wide anterior fonta... OMIM:214100
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Long face, Facial palsy, Limb muscle weakness, Narrow face, Increased var... OMIM:616313
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Platyspondyly, Talipes equinovarus, Flared metaphysis, Dysplasia of the femoral h... OMIM:615349
Myopathy, Centronuclear, 2
Long face, Scoliosis, Hyperlordosis, Scapular winging, EMG: myopathic abnormalities, Kyphosis, Fa... OMIM:255200
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short long bone, Intrauterine growth retardation, Short finger, Hydrocephalus, Short... OMIM:269860
Classic Multiminicore Myopathy
Congestive heart failure, Spinal rigidity, Muscular dystrophy, Weakness of facial musculature, Ma... ORPHA:324604
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Bilateral cleft palate, Broad thumb, Micrognathia, Flat face, Sho... ORPHA:2001
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia, Epicanthus, Flat face, Intrauterine growth retardation OMIM:616910
Fountain Syndrome
Abnormal metacarpal morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies,... ORPHA:3219
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Round face, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Flat face,... OMIM:132450
Larsen Syndrome
Broad distal phalanx of finger, Finger syndactyly, Scoliosis, Vertebral segmentation defect, Abno... ORPHA:503
Distal Myopathy, Welander Type
Distal upper limb muscle weakness, Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic ... ORPHA:603
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Broad distal phalanx of finger, Sandal gap, Scoliosis, Hyperlordosis, Kyphosis, Sy... OMIM:615761
Arthrogryposis, Distal, Type 5
Triangular face, Firm muscles, Scoliosis, Absent phalangeal crease, Congenital finger flexion con... OMIM:108145
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, Spinal rigidity, Scoliosis, Minicore... ORPHA:598
Orofaciodigital Syndrome Xv
Postaxial hand polydactyly, Duplication of phalanx of hallux, Broad hallux, Agenesis of corpus ca... OMIM:617127
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Facial palsy, Limb muscle weakness, Ptosis, Micrognathia, Weakness of facial musculatu... OMIM:608930
Congenital Myopathy 2A, Typical, Autosomal Dominant
Retrognathia, Spinal rigidity, Scoliosis, Hyperlordosis, Facial palsy, EMG: myopathic abnormaliti... OMIM:161800
Blepharocheilodontic Syndrome 2
Euryblepharon, Distichiasis, Ectropion of lower eyelids, Lagophthalmos, Flat face, Cutaneous synd... OMIM:617681
Poliomyelitis
Hypoplasia of the musculature, Hypertension, Abnormal skeletal muscle morphology, Hypovolemic sho... ORPHA:2912
Parkinson Disease 17
Bradykinesia, Resting tremor, Akinesia, Tremor OMIM:614203
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Aplasia o... ORPHA:2437
Cebalid Syndrome
Congenital diaphragmatic hernia, Highly arched eyebrow, Downslanted palpebral fissures, Thick eye... OMIM:618774
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Abnormal facial shape, Syndactyly, Epicanthus, Flat face, Blepharophimosis OMIM:616006
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Bradycardia, Nemaline bodies, Death in infancy, Increased variability in musc... OMIM:620265
Mulchandani-Bhoj-Conlin Syndrome
Retrognathia, Triangular face, Scoliosis, Hyperlordosis, 2-3 toe syndactyly, Epicanthus, Intraute... OMIM:617352
Congenital Myopathy 23
Kyphoscoliosis, Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeleta... OMIM:609285
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Round face, Synophrys, Long palpebral fissure, Micrognathia, Downslanted palpebral fis... OMIM:602562
Kleefstra Syndrome 1
Single transverse palmar crease, Mandibular prognathia, Persistence of primary teeth, Synophrys, ... OMIM:610253
Distal Deletion 12Q
Kyphoscoliosis, Supernumerary tooth, Clinodactyly of the 5th finger, Telecanthus, Wide anterior f... ORPHA:96149
Cerebrooculonasal Syndrome
Tessier cleft, Postaxial hand polydactyly, Sparse eyelashes, Sparse eyebrow, Large face, Epicanth... ORPHA:66625
Treacher-Collins Syndrome
Tessier cleft, Retrognathia, Encephalocele, Abnormality of the vertebral column, Abnormal dental ... ORPHA:861
Diprosopus
Non-midline cleft of the upper lip, Cleft palate, Anencephaly ORPHA:1681
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Recurrent sinusitis, Overlapping toe, Sacral dimple, Scoliosis, Hemiverteb... OMIM:213980
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Scoliosis, Increased variability in muscle fiber diameter, Skele... OMIM:613204
Zellweger Syndrome
Epiphyseal stippling, Wide anterior fontanel, Death in infancy, Micrognathia, Epicanthus, Flat fa... ORPHA:912
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Abnormality of the palpebral fissures, Single transverse palmar crease, Scoliosis, Kyphosis, Shor... ORPHA:178148
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft of the upper lip, Cleft palate, Anencephaly, Spina bifida ORPHA:2476
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Contractural Arachnodactyly, Congenital
Kyphoscoliosis, Wrist flexion contracture, Congenital finger flexion contractures, Arachnodactyly... OMIM:121050
Osteogenesis Imperfecta, Type Iii
Triangular face, Slender long bone, Wide anterior fontanel, Scoliosis, Tibial bowing, Pulmonary a... OMIM:259420
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Pt... OMIM:618940
Walker-Warburg Syndrome
Muscular dystrophy, Hydrocephalus, Aplasia/Hypoplasia involving the skeletal musculature, Cleft p... ORPHA:899
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Wrist swelling, Metacarpal osteolysis, Triangular face, Carpal o... OMIM:166300
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Rocker bottom foot, Scoliosis, Camptodactyly, Shallow orbits, Long eyelashes, Downslanted palpebr... OMIM:601353
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, Scoliosis, Femoral bowing, Tibial bowing,... ORPHA:140
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Intellectual Developmental Disorder, X-Linked 30
Flat face, Prominent fingertip pads, Upslanted palpebral fissure, Hydrocephalus OMIM:300558
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Mandibular prognathia, Round face, Unilateral cleft palate, Almond-sh... OMIM:619103
3P25.3 Microdeletion Syndrome
Postaxial polydactyly, Sacral dimple, Proximal placement of thumb, Acromesomelia, Mandibular prog... ORPHA:435638
Arthrogryposis, Distal, Type 2B2
Triangular face, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Clinodactyly, Sh... OMIM:618435
Joubert Syndrome 15
Exencephaly OMIM:614464
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Triangular face, Scoliosis, Micrognathia, Joint contracture, Skeletal muscle atrophy, Intrauterin... OMIM:615419
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Platyspondyly, Aortic regurgitation, Genu valgum, Facial hypot... ORPHA:309282
Kyphomelic Dysplasia
Platyspondyly, Ulnar bowing, Pterygium, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus... OMIM:211350
Autosomal Recessive Centronuclear Myopathy
Retrognathia, Long face, Hyperlordosis, Facial diplegia, Scapular winging, Facial palsy, Abnormal... ORPHA:169186
Skin Creases, Congenital Symmetric Circumferential, 1
Short palpebral fissure, Micrognathia, Cleft palate, Long fingers, Epicanthus, Flat face, Short n... OMIM:156610
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Nicolaides-Baraitser Syndrome
Short palpebral fissure, Broad distal phalanx of finger, Triangular face, Abnormal metacarpal mor... ORPHA:3051
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Myopathy, Myofibrillar, 7
Spinal rigidity, Talipes equinovarus, Shoulder flexion contracture, Scoliosis, Thoracic kyphosis,... OMIM:617114
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy, Myelomeningocele OMIM:235000
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal musc... ORPHA:98863
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus... OMIM:301075
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H... ORPHA:2839
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy OMIM:609524
Mucopolysaccharidosis Type 7
Diaphyseal undertubulation, Anterior beaking of lumbar vertebrae, Abnormal hip bone morphology, E... ORPHA:584
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy,... ORPHA:1145
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Triangular face, Wide distal femoral metaphysis, Dislocated radial head, Angulate... OMIM:614856
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Talipes equinovarus, Palmoplantar cutis gyrata, Dislocated radial head, Flared metaphysis, Scolio... OMIM:130070
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Spinal rigidity, Scoliosis, Increased variability in muscle fiber diameter, C... OMIM:617066
Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal musc... ORPHA:98853
3M Syndrome
Rocker bottom foot, Hyperlordosis, Kyphosis, Hypoplastic ischia, Hypoplastic pelvis, Intrauterine... ORPHA:2616
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Bilateral ptosis, Rocker bottom foot, Clinodactyly of the 5th fi... ORPHA:1272
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Spinal rigidity, Reduced muscle collagen VI, Torticollis, Scoliosis, Round fa... OMIM:254090
Congenital Myasthenic Syndromes With Glycosylation Defect
Ragged-red muscle fibers, Scoliosis, Scapular winging, Facial palsy, Muscle fiber tubular inclusi... ORPHA:353327
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Retrognathia, Scoliosis, Long eyelashes, Increased variability in muscle fiber diameter, Flexion ... OMIM:619026
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Hyperlor... ORPHA:3068
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... OMIM:618138
Icf Syndrome
Communicating hydrocephalus, Micrognathia, Epicanthus, Umbilical hernia, Flat face, Macroglossia ORPHA:2268
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... OMIM:271150
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Scapular winging, Shoulder girdle muscle weakness, Weakness of facial mu... OMIM:619477
Congenital Myopathy 18
Scoliosis, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fi... OMIM:620246
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... OMIM:620249
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Abnormal eyebrow morphology, Mesomelia, Umbilical hernia, Abnormality ... ORPHA:2496
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco... ORPHA:64754
Chromosome 17P13.1 Deletion Syndrome
Proximal placement of thumb, Highly arched eyebrow, Arachnodactyly, Umbilical hernia, Sacral dimp... OMIM:613776
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Scoliosis, Facial palsy, Nem... OMIM:255320
King-Denborough Syndrome
Kyphoscoliosis, Minicore myopathy, Bilateral ptosis, Scoliosis, Thoracic kyphosis, Ptosis, Centra... OMIM:619542
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis, Limb muscle weakness, Ptosis, Decreased muscle mass, Type 1 muscle fibe... OMIM:603034
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal musc... ORPHA:98855
Branchioskeletogenital Syndrome
Blepharochalasis, Telecanthus, Highly arched eyebrow, Mandibular prognathia, Abnormal dentin morp... ORPHA:1299
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Congenital Myopathy With Myasthenic-Like Onset
Type 1 muscle fiber predominance, Scoliosis, Scapular winging, EMG: myopathic abnormalities, Ptos... ORPHA:424107
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordos... OMIM:253700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Micrognathia, Malar flattening, Epicanthus, Flat face, Macroglossia OMIM:242860
Osteogenesis Imperfecta, Type V
Anterior radial head dislocation, Triangular face, Vertebral wedging, Hyperextensibility of the f... OMIM:610967
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Robinow-Sorauf Syndrome
Bilateral ptosis, Shallow orbits, Broad thumb, Downslanted palpebral fissures, Broad hallux, Mala... OMIM:180750
Ring Chromosome 7 Syndrome
Bilateral ptosis, Highly arched eyebrow, Severe intrauterine growth retardation, Heart murmur, Sh... ORPHA:1449
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Triangular face, Mandibular prognathia, Round face, Camptodactyly, Umbil... ORPHA:369891
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Long face, Mandibular prognathia, Facial palsy, Ptosis, Decreased muscle mass, Skeletal muscle at... OMIM:608931
Mucolipidosis Type Ii
Cardiomyopathy, Kyphosis, Shallow orbits, Umbilical hernia, Left ventricular hypertrophy, Telangi... ORPHA:576
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Triangular face, Tapered distal phalanges of finger, Scoliosis, Elbow flexion contracture, EMG: m... ORPHA:371364
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Cardiomyopat... ORPHA:399058
Cap Myopathy
Lower limb amyotrophy, Long face, Sinus tachycardia, Facial palsy, Reduced systolic function, Inc... ORPHA:171881
Menke-Hennekam Syndrome 1
Sandal gap, Umbilical hernia, Overlapping toe, Scoliosis, Downslanted palpebral fissures, Cleft p... OMIM:618332
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Rimmed vacuoles, EMG: myopathic abnormalities, Increased varia... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... OMIM:254110
Myoectodermal Gonadal Dysgenesis Syndrome
Limited elbow extension, Hypoplasia of the lacrimal punctum, Highly arched eyebrow, Single transv... OMIM:618419
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Wrist flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:616503
Monosomy 22
Retrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease,... ORPHA:96123
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Triangular face, Broad eyebrow, Limb hypertonia, Thoracic kyphoscoliosis, Abnormal facial shape, ... ORPHA:481152
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Anencephaly, Postaxial hand polydactyly, Camptodactyly, P... OMIM:614175
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak... OMIM:619473
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Postaxial polydactyly, Downslanted palpebral fissures, Hypoplasia of the odontoid... OMIM:612913
Chromosome 3Pter-P25 Deletion Syndrome
Retrognathia, Sacral dimple, Triangular face, Highly arched eyebrow, Tapered finger, Synophrys, P... OMIM:613792
Kbg Syndrome
Finger clinodactyly, Triangular face, Telecanthus, Single transverse palmar crease, Scoliosis, Ro... ORPHA:2332
Distal Duplication 18Q
Bilateral single transverse palmar creases, Triangular face, Clinodactyly of the 5th finger, Roun... ORPHA:1716
Constricting Bands, Congenital
Tessier cleft, Cleft palate, Encephalocele OMIM:217100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Ptosis, Skeletal muscle atrophy, Weakness of facial m... OMIM:617069
20P13 Microdeletion Syndrome
Polydactyly, Telecanthus, Highly arched eyebrow, Wide anterior fontanel, Finger syndactyly, Synop... ORPHA:313781
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Abnormal thumb morph... ORPHA:1120
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Highly arched eyebrow, Absen... OMIM:620662
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Congenital Myopathy 14
Knee flexion contracture, Elbow flexion contracture, Death in infancy, Increased variability in m... OMIM:618414
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Ragged-red muscle fibers, Facial palsy, Kyphosis, Generalized amyotrophy, Ptosis... OMIM:615084
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Lower ... OMIM:620452
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Hypopl... OMIM:607323
Central Core Disease
Kyphoscoliosis, Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core reg... ORPHA:597
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b... OMIM:609200
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Retrognathia, Pulmonary insufficiency, Death in childhood, Brady... OMIM:614437
Legius Syndrome
Triangular face, Supravalvar pulmonary stenosis, Ptosis, Downslanted palpebral fissures, Microgna... OMIM:611431
Skin Creases, Congenital Symmetric Circumferential, 2
Short palpebral fissure, Clinodactyly of the 5th finger, Long face, 2-3 toe syndactyly, Tapered f... OMIM:616734
Alazami Syndrome
Short palpebral fissure, Triangular face, Scoliosis, Malar flattening, Narrow palpebral fissure OMIM:615071
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr... OMIM:614096
Distal Deletion 10Q
Sandal gap, Facial diplegia, Prominent fingertip pads, Lateral ventricle dilatation, Clinodactyly... ORPHA:96148
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Retrognathia, Triangular face, Joint contracture of the 5th finger, Single transverse palmar crea... OMIM:620098
Achondrogenesis, Type Ia
Stillbirth, Hypoplastic sacrum, Hypoplasia of the radius, Unossified vertebral bodies, Severe lim... OMIM:200600
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Thoracolumbar kyphosis, Platyspondyly, Scoliosis, Hypoplastic verteb... OMIM:230600
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus... OMIM:611615
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of deltoid muscle, Hypoplasia of lat... OMIM:173800
Houge-Janssens Syndrome 2
Facial hypotonia, Hydrocephalus, Scoliosis, Postaxial polydactyly, Downslanted palpebral fissures... OMIM:616362
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Multiple pterygia, Pterygium, Malar flattening, Microretrognathia, Epicanthus, Flat face, Talipes... OMIM:177980
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Spinal rigidity, Type 1 and type 2 muscle fiber minicore regions, Scoliosis, ... OMIM:602771
Trisomy 20P
Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Highly arched eyebrow, Round... ORPHA:261318
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Spina bifida occulta, A... ORPHA:2311
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Spinal rigidity, Ankle flexion contracture, Premature ventricular contraction... OMIM:617072
17P11.2 Microduplication Syndrome
Scoliosis, Micrognathia, Triangular face, Downslanted palpebral fissures ORPHA:1713
Phosphoribosylaminoimidazole Carboxylase Deficiency
Clinodactyly of the 5th finger, Lumbar hemivertebrae, Neonatal death, Flat face, Short neck, Tali... OMIM:619859
Chromosome 15Q26-Qter Deletion Syndrome
Triangular face, Micrognathia, Short middle phalanx of finger, Brachydactyly, Intrauterine growth... OMIM:612626
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Triangular face, Clinodactyly of the 5th finger, Short metatarsal, Scoliosis... ORPHA:77258
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Omodysplasia 1
Limited elbow extension, Popliteal pterygium, Axillary pterygium, Fibular hypoplasia, Rhizomelia,... OMIM:258315
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Triangular face, Congenital muscular torticollis, Long face, Wide anterior fontanel, Scoliosis, C... ORPHA:457279
Simosa Craniofacial Syndrome
Telecanthus, Highly arched eyebrow, Long face, Sparse eyebrow, Malar flattening, Flat face, Bleph... OMIM:182150
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Bethlem Muscular Dystrophy
Spinal rigidity, Wrist flexion contracture, Limb-girdle muscle weakness, Quadriceps muscle weakne... ORPHA:610
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Weakness of facial musculature, Ragged-red muscle fibers, Kyphosis, Generalized ... ORPHA:352447
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Broad eyebrow, Proximal placement of ... ORPHA:94065
Wiedemann-Steiner Syndrome
Short palpebral fissure, Abnormality of the hand, Sacral dimple, Rhizomelia, Clinodactyly of the ... ORPHA:319182
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Triangular face, Facial hypotonia, Scoliosis, Ptosis, Hip contracture, Downslanted palpebral fiss... OMIM:616801
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy OMIM:609500
Native American Myopathy
Bilateral ptosis, Abnormality of skeletal muscle fiber size, Talipes equinovarus, Camptodactyly, ... ORPHA:168572
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Spinal rigidity, Scoliosis, EMG: myopathic abnormalities, Limb muscle weakness, Increased variabi... ORPHA:486815
Three M Syndrome 2
Triangular face, Delayed eruption of teeth, Slender long bone, Short 5th finger, Hyperlordosis, S... OMIM:612921
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Micrognathia, Increa... OMIM:617228
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Enamel hypoplasia, Carious teeth, Increased variabili... OMIM:226670
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Ptosis, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Nail-Patella Syndrome
Disproportionate prominence of the femoral medial condyle, Scoliosis, Biceps aplasia, Back pain, ... OMIM:161200
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con... OMIM:160565
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Broad face, Hydrocephalus, Bilateral cleft... OMIM:610828
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Prolonged QT interval, Polymorphic ventricular tachycardia, Prominen... ORPHA:37553
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis, Dysplastic corpus callosum, Short palpebral fissure, Long face, Ptosis, Micrognat... OMIM:618820
Amyotrophic Lateral Sclerosis 27, Juvenile
Scoliosis, Hyperlordosis, Scapular winging, Intrinsic hand muscle atrophy, Fiber type grouping, G... OMIM:620285
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Median cleft palate, Kyphosis, Lower l... OMIM:169400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hyperlordosis, Increase... OMIM:613157
Marshall Syndrome
Genu valgum, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Sparse eyelashes, Micrognath... ORPHA:560
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Death in childhood, Hypertension, Hypertrophic cardiomyopathy, Umbilical hernia, Neonatal death, ... OMIM:614052
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m... OMIM:620375
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Bilateral ptosis, Rocker bottom foot, Dislocated radial head, Ky... OMIM:265000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bilateral ptosis, Ragged-red muscle fibers, Scoliosis, Cardiomyopathy, EMG: myopathic abnormaliti... OMIM:258450
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame... OMIM:612999
Finnish Upper Limb-Onset Distal Myopathy
Amyotrophy of ankle musculature, Rimmed vacuoles, Split hand, EMG: myopathic abnormalities, Weakn... ORPHA:399086
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Carious teeth, Micrognathia, Downslanted palpeb... ORPHA:96097
Myopathy, X-Linked, With Excessive Autophagy
Scoliosis, Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atr... OMIM:310440
Multiple Sulfatase Deficiency
Hydrocephalus, Broad thumb, Hypoplastic vertebral bodies, Broad hallux, Flat face, Coarse facial ... OMIM:272200
Menke-Hennekam Syndrome 2
Short palpebral fissure, Sandal gap, Blepharophimosis, Micrognathia, Epicanthus, Cutaneous syndac... OMIM:618333
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Cutis Laxa, Autosomal Recessive, Type Iib
Triangular face, Hydrocephalus, Scoliosis, Bowing of the long bones, Congenital hip dislocation, ... OMIM:612940
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Ptosis, Rhabdomyolysis, Skeletal muscle atrophy OMIM:617070
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Abnormality of masticatory muscle, Scoliosis, Thoracic kyphoscoliosis, Trice... ORPHA:98913
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Proximal upper limb amyotrophy, Spinal rigidity, Muscular dystrop... OMIM:613205
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop... OMIM:608810
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Tapered finger, Abnormal facial shape, Epiphyseal dysplasia, Malar flat... OMIM:607131
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Triangular face, Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Slender lo... ORPHA:73230
Carpenter Syndrome
Kyphoscoliosis, Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad th... ORPHA:65759
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy, Progressi... ORPHA:480
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Mandi... ORPHA:1908
Laing Early-Onset Distal Myopathy
Talipes cavus equinovarus, Scoliosis, Weakness of orbicularis oculi muscle, EMG: myopathic abnorm... ORPHA:59135
Al Kaissi Syndrome
Sacral dimple, Triangular face, Torticollis, Telecanthus, Deep palmar crease, Hemivertebrae, Syno... OMIM:617694
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Polydactyly, Short 4th metacarpal, Palmar pits, Short distal phalanx of the thumb... OMIM:109400
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Kyphosis, Long palpebral fissure, Ptosis, Postaxial polydactyly, Skeletal muscle a... OMIM:603387
Otopalatodigital Syndrome Type 2
Myelomeningocele, Hypoplastic frontal sinuses, Flared iliac wing, Fibular aplasia, Tarsal synosto... ORPHA:90652
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Abnormal long bone morphology, Abnormality of the vertebral column, Rim... ORPHA:52430
Chromosome 10Q26 Deletion Syndrome
Limited elbow extension, 2-3 toe cutaneous syndactyly, Radial deviation of finger, Triangular fac... OMIM:609625
Al-Raqad Syndrome
Flat face, Brachydactyly, Sandal gap OMIM:616459
Lateral Meningocele Syndrome
Telecanthus, Meningocele, Hydrocephalus, Scoliosis, Kyphosis, Biconcave vertebral bodies, Ptosis,... OMIM:130720
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle... OMIM:608807
Down Syndrome
Bilateral single transverse palmar creases, Atlantoaxial dislocation, Clinodactyly of the 5th fin... ORPHA:870
Congenital Disorder Of Glycosylation, Type Ii
Flat face, Upslanted palpebral fissure, Epicanthus OMIM:607906
Waardenburg Syndrome Type 1
Telecanthus, Meningocele, Scoliosis, Mandibular prognathia, Spina bifida, Synophrys, Ptosis, Clef... ORPHA:894
Orofaciodigital Syndrome Xvii
Polydactyly, Retrognathia, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication ... OMIM:617926
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Hydrocephalus, Myelomeningocele, Punctate vertebral calcifications, Brachyd... ORPHA:1914
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Facial palsy, Facial asymmetry, Short neck ORPHA:3456
Fraser Syndrome 1
Tessier cleft, Upper eyelid coloboma, Encephalocele, Aplasia/Hypoplasia of the thumb, Hydrocephal... OMIM:219000
Phaver Syndrome
Butterfly vertebrae, Triphalangeal thumb, Pterygium, Abnormal form of the vertebral bodies, Myelo... ORPHA:2876
Ruijs-Aalfs Syndrome
Triangular face, Single transverse palmar crease, Thoracic kyphoscoliosis, Elbow flexion contract... OMIM:616200
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bilateral ptosis, Broad distal phalanx of finger, Highly arched eyebrow, Scoliosis, 2-3 toe synda... ORPHA:404440
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Ptosis, Proximal amyotrophy, Facial palsy OMIM:610542
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Macroglossia, ... OMIM:151800
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Hydrocephalus, Single transverse palmar cr... OMIM:617866
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Malar flattening, Clinodactyly OMIM:615984
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, Increased variability in muscle fiber diameter OMIM:617915
Marinesco-Sjogren Syndrome
Cubitus valgus, Short metatarsal, Scoliosis, Rimmed vacuoles, Short metacarpal, Kyphosis, Central... OMIM:248800
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Triploidy
Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Finger syndactyly, Micrognathia, ... ORPHA:3376
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Triangular face, Clinodactyly of the 5th finger, Diastasis recti, Upper limb asymmetry ORPHA:231140
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Preaxial polydactyly, Highly arched eyebrow, Bilateral talipes equinovarus, Postaxi... OMIM:618142
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small the... OMIM:211960
17Q24.2 Microdeletion Syndrome
Abnormality of the wrist, Triangular face, Prolonged QT interval, Cubitus valgus, Upper limb unde... ORPHA:529962
Myopathy, Distal, 3
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Split hand, EMG: myopathic abnormalities,... OMIM:610099
Myopathy, Centronuclear, 5
Retrognathia, Micrognathia, Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness... OMIM:615959
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Meningocele, Scoliosis, Hyperlo... ORPHA:2789
12Q14 Microdeletion Syndrome
Triangular face, Clinodactyly of the 5th finger, Scoliosis, Synophrys, Micrognathia, Thick eyebro... ORPHA:94063
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Scoliosis, Facial palsy, Hypertensive crisis, Ptosis, Mic... ORPHA:1358
Zebra Body Myopathy
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma... ORPHA:97240
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Clinodactyly of the 5th