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Gene: Ski MGI:98310

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Skiem1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Shprintzen-Goldberg Syndrome
Telecanthus, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Mitra... ORPHA:2462
Shprintzen-Goldberg Craniosynostosis Syndrome
Telecanthus, Camptodactyly, Scoliosis, Hydrocephalus, Metaphyseal widening, Umbilical hernia, Wid... OMIM:182212
1P36 Deletion Syndrome
Camptodactyly of finger, Scoliosis, Epicanthus, Hip dysplasia, Myopathy, Abnormal eyebrow morphol... ORPHA:1606

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
Neural tube defect, Facial cleft OMIM:600776
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Camptodactyly of finger, Short distal phalanx of finger, Epicanth... ORPHA:1327
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphalangeal joint contracture of finge... OMIM:305620
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Neonatal death, Widening of cervical spinal canal, Micrognathia, Hypopla... OMIM:253310
Schwartz-Jampel Syndrome, Type 1
Scoliosis, Anterior bowing of long bones, Shoulder flexion contracture, Quadriceps muscle weaknes... OMIM:255800
Frontometaphyseal Dysplasia
Camptodactyly of finger, Scoliosis, Short distal phalanx of finger, Short metatarsal, Metacarpoph... ORPHA:1826
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Carey-Fineman-Ziter Syndrome 1
Pulmonary arterial hypertension, Scoliosis, Retrognathia, Epicanthus, Myopathy, Trismus, Weakness... OMIM:254940
Rhizomelic Chondrodysplasia Punctata, Type 1
Flat face, Malar flattening, Coronal cleft vertebrae, Upslanted palpebral fissure, Flared metaphy... OMIM:215100
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the palpebral fissures, Thin metacarpal cortices, Flat face, Malar flattening, Syn... ORPHA:2463
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Camptodactyly of finger, Skeletal muscle atrophy, Aplasia/Hypoplasia involvin... ORPHA:2926
Tetrasomy 5P
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Epicanthus... ORPHA:3309
Rhizomelic Dysplasia, Patterson-Lowry Type
Deviation of finger, Short humerus, Epicanthus, Flat face, Mandibular prognathia, Deformed humera... ORPHA:2831
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Torticollis ORPHA:3181
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Intrauterine growth retardation, Pterygium, Micrognathia, Hypopla... OMIM:225790
3Mc Syndrome 2
Partial abdominal muscle agenesis, Diastasis recti, Torticollis, Hip dislocation, Abnormality of ... OMIM:265050
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Scoliosis, Hip dislocation, Increased laxity of fingers, Short neck, Knee flexion co... ORPHA:75840
Pde4D Haploinsufficiency Syndrome
Broad face, Short metatarsal, Short toe, Short phalanx of finger, Cone-shaped epiphysis, Brachyda... ORPHA:439822
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Scoliosis, Retrognathia, Flat face, Lumbar scoliosis, Advanced ossification of carpal bones, Coxa... OMIM:620269
Sprengel Deformity
Shoulder muscle hypoplasia, Spina bifida occulta, Neck muscle hypoplasia OMIM:184400
Metaphyseal Acroscyphodysplasia
Telecanthus, Scoliosis, Epicanthus, Abnormal metaphysis morphology, Genu varum, Abnormal diaphysi... ORPHA:1240
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Short distal phalanx of finger, Epicanthus, Flat face, Short neck, Downs... ORPHA:2994
Marinesco-Sjögren Syndrome
Scoliosis, Hip dislocation, Hip dysplasia, Myopathy, Avascular necrosis of the capital femoral ep... ORPHA:559
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Scoliosis, Left ventricular systolic dysfunction, Lumbar hyperlordosis, ... OMIM:619719
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Abnormality of the vertebral column, Short 5th finger, 2-3 toe syndactyly,... OMIM:239800
Gne Myopathy
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Limited wrist extens... ORPHA:602
Wiedemann-Steiner Syndrome
Scoliosis, Epicanthus, Thick eyebrow, Short palpebral fissure, Highly arched eyebrow, Short toe, ... OMIM:605130
Larsen-Like Syndrome
Radial deviation of the 4th finger, Flat face, Malar flattening, Wide anterior fontanel, Dental m... OMIM:608545
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Arthrogryposis, Distal, Type 2A
Scoliosis, Hip dislocation, Epicanthus, Flexion contracture of finger, Rocker bottom foot, Should... OMIM:193700
Maxillonasal Dysplasia
Short distal phalanx of finger, Scoliosis, Flat face, Mandibular prognathia, Vertebral clefting, ... ORPHA:1248
Blepharophimosis-Impaired Intellectual Development Syndrome
Narrow palpebral fissure, Short distal phalanx of finger, Scoliosis, Epicanthus, Hip dysplasia, L... OMIM:619293
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Ulnar deviation of finger, Flat face, Lacr... ORPHA:1529
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft ORPHA:3374
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Broad long bones, Joint contracture of the hand, Camptodactyly, F... OMIM:228520
Scapuloperoneal Spinal Muscular Atrophy
Clinodactyly, Torticollis, Scoliosis, Peroneal muscle atrophy, Muscle fiber splitting, Hip dyspla... OMIM:181405
Myopathy, X-Linked, With Postural Muscle Atrophy
Scoliosis, Short neck, Arrhythmia, Hamstring contractures, Skeletal muscle atrophy, Skeletal musc... OMIM:300696
Intellectual Developmental Disorder, Autosomal Dominant 59
Flat face, Sacral dimple, Highly arched eyebrow, Long palpebral fissure, Short palm, Facial hypot... OMIM:618522
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Telecanthus, Absent extraocular muscles, Hip dislocation, Flat face, Malar flattening, Hydrocepha... OMIM:109120
Richieri Costa-Da Silva Syndrome
Diastasis recti, Distal lower limb muscle weakness, Decreased muscle mass, Flat face, Short neck,... ORPHA:3101
Polyglucosan Body Myopathy 2
Shoulder girdle muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Muscle fiber pol... OMIM:616199
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Cervical instability, Flat face, Small epiphyses, Delayed ossification of carpal bones, Platyspon... ORPHA:93346
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Flat face, Flat acetabular roof, Bowing of the long bones, Microg... ORPHA:1801
Autosomal Recessive Stickler Syndrome
Irregular vertebral endplates, Malar flattening, Flat face, Abnormal epiphysis morphology, Platys... ORPHA:250984
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Scoliosis, Mitral regurgitation, Ulnar deviation of finger, Abnormal siz... ORPHA:1101
Childhood-Onset Nemaline Myopathy
Scoliosis, Arthrogryposis multiplex congenita, Facial diplegia, Myopathy, Type 1 muscle fiber pre... ORPHA:171439
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Narrow palpebral fissure, Camptodactyly, Epicanthus, Flat face, Downslanted palpebral fissures, I... OMIM:613604
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Anterior encephalocele, Facial cleft OMIM:601357
Acrofacial Dysostosis, Catania Type
Facial cleft, Downslanted palpebral fissures, Finger syndactyly, Intrauterine growth retardation,... ORPHA:1786
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scoliosis, Cardiomyopathy, EMG: myopathic abnormalities, Scapular winging, Limb-girdle muscular d... OMIM:608099
Robinow Syndrome, Autosomal Recessive 1
Short distal phalanx of finger, Scoliosis, Aplasia/Hypoplasia involving the metacarpal bones, Bro... OMIM:268310
Intellectual Developmental Disorder, Autosomal Recessive 45
Retrognathia, Flat face, Synophrys, Downslanted palpebral fissures, Thick eyebrow, Upslanted palp... OMIM:615979
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Wolff-Parkinson-White syndrome, Scoliosis, Distal lower ... OMIM:619566
Chromosome 5Q12 Deletion Syndrome
Macroglossia, Epicanthus, Hypotension, Flat face, Short neck, Sacral dimple, Long fingers, Long p... OMIM:615668
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormality of the humerus, Abnormal eyelash morphology, Facial cleft, U... ORPHA:1794
Distal Monosomy 7Q36
Flat face, Short neck, Holoprosencephaly, Upslanted palpebral fissure, Micrognathia, Bilateral si... ORPHA:1636
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Camptodactyly, Hydrocephalus, Flat face, Malar flattening, Metaphyseal widening, A... OMIM:224400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Miscarriage, Hypoplastic ilia, Flat face, Hydrocephalus, Short neck, Broad long bo... ORPHA:1865
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Otopalatodigital Syndrome, Type I
Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormality of the fifth metatarsal b... OMIM:311300
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Hip dysplasia, Flat face, Capitate-hamate fusion, Short metacarpal, Irre... OMIM:614078
Codas Syndrome
Scoliosis, Congenital hip dislocation, Epicanthus, Flat face, Coronal cleft vertebrae, Short meta... ORPHA:1458
Achondrogenesis, Type Ib
Hypoplastic ilia, Absent or minimally ossified vertebral bodies, Flat face, Malar flattening, Umb... OMIM:600972
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Epicanthus, Skeletal muscle atrophy, Retrognathia ORPHA:85323
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb ... OMIM:619042
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Flat face, Hydroce... ORPHA:1860
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida, Eyelid coloboma, Blepharophimosis, Vertebral segmentation defe... ORPHA:1104
Supernumerary Nostril
Facial cleft ORPHA:141096
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flat face, Malar flattening, Occipital encephalocele, Anisospondyly, Neonatal death, Short long b... OMIM:224410
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Abnormal muscle fiber protein expres... ORPHA:488650
Pfeiffer Syndrome
Hip dysplasia, Flat face, Short neck, Mandibular prognathia, Finger syndactyly, Synostosis of car... ORPHA:710
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Scoliosis, Proximal amyotrophy, Intrinsic hand muscle atrophy, Dist... OMIM:620068
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Epicanthus, Sparse eyelashes, Facial cleft, Eyelid coloboma, Aplasia/Hyp... ORPHA:306542
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormality of the vertebral column, Abnormal hip bone morphology, Syndactyly, Upper... ORPHA:294975
Nemaline Myopathy 2
Scoliosis, Type 1 muscle fiber predominance, Spinal rigidity, Rimmed vacuoles, Hand clenching, We... OMIM:256030
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Retrognathia, Abnormal metaphysis morphology, Epicanthus, Flat face, Facial hyperostos... ORPHA:2780
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac... ORPHA:611
Congenital Fiber-Type Disproportion Myopathy
Scoliosis, Congenital hip dislocation, Shoulder girdle muscle weakness, Weakness of facial muscul... ORPHA:2020
Wrinkly Skin Syndrome
Scoliosis, Congenital hip dislocation, Palmoplantar cutis laxa, Epicanthus, Umbilical hernia, Wid... OMIM:278250
Neu-Laxova Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Retrognathia, Abnormal eyelash morphology, Spina b... ORPHA:2671
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Scoliosis, Short neck, Kyphosis, Spinal ... OMIM:300718
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Scoliosis, Death in adolescence, Spinal ... OMIM:300717
Vulto-Van Silfhout-De Vries Syndrome
Epicanthus, Flat face, Mandibular prognathia, Sacral dimple, Upslanted palpebral fissure, Horizon... OMIM:615828
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Flat face, Downslanted palpebral fissures, Intrauterine growth retardation, Round ... OMIM:617333
Multiple Pterygium Syndrome, X-Linked
Short finger, Epicanthus, Vertebral fusion, Abnormal cervical curvature, Intrauterine growth reta... OMIM:312150
Alg9-Cdg
Torticollis, Hitchhiker thumb, Short neck, Ulnar deviation of the hand, Wide anterior fontanel, T... ORPHA:79328
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft OMIM:600251
Acromelic Frontonasal Dysostosis
Encephalocele, Polydactyly, Preaxial polydactyly, Midline facial cleft, Downslanted palpebral fis... OMIM:603671
Bethlem Myopathy 2
Scoliosis, Hip dislocation, Myopathy, Kyphosis, Scapular winging, Increased variability in muscle... OMIM:616471
Thanatophoric Dysplasia
Hip dysplasia, Abnormal metaphysis morphology, Flat face, Hydrocephalus, Downslanted palpebral fi... ORPHA:2655
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Epicanthus, Abnormal metaphysis morphology, Flat face, Abnormal epiphysis morphology, ... ORPHA:177
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str... OMIM:617158
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal iliac wing morphology, Lumbar hyperlordosis, Abnormal long bone mo... ORPHA:1427
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in lower limbs, Low back pain, Fiber type grouping, Weakness of facial m... OMIM:619733
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Abnormal distal phalanx morphology of finger, Craniofacial hyperostosis, Flat face, Abnormal hip ... ORPHA:2725
Campomelic Dysplasia
Scoliosis, Shortening of all phalanges of the toes, Hip dislocation, Epicanthus, Short palpebral ... OMIM:114290
Multiple Pterygium Syndrome, Lethal Type
Short finger, Epicanthus, Vertebral fusion, Abnormal cervical curvature, Intrauterine growth reta... OMIM:253290
9Q31.1Q31.3 Microdeletion Syndrome
Flat face, Short neck, Mandibular prognathia, Aortic regurgitation, Short clavicles, Tapered fing... ORPHA:401923
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Decreased fibular diameter, Flat face, Short neck, Intrauterine growth retardat... OMIM:616897
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Scoliosis, Bilateral talipes equinovarus, Flat face, Malar flattening, Decreased palmar creases, ... OMIM:612394
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Bilateral ptosis, Flat face, Synophrys, Lobar holoprosencephaly, Syndactyly, Thick eyebrow, Upsla... OMIM:614701
Marden-Walker Syndrome
Camptodactyly of finger, Scoliosis, Retrognathia, Hydrocephalus, Muscular dystrophy, Skeletal mus... ORPHA:2461
Alagille Syndrome
Short distal phalanx of finger, Flat face, Downslanted palpebral fissures, Hypertension, Intraute... ORPHA:52
Thoracomelic Dysplasia
Abnormality of fibula morphology, Abnormal metaphysis morphology, Flat face, Short neck, Round fa... ORPHA:1803
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Scoliosis, Lumbar hyperlordosis, Hip dislocation, Delayed calcaneal ossifica... OMIM:183900
Cutis Laxa, Autosomal Recessive, Type Iia
Scoliosis, Congenital hip dislocation, Flat face, Malar flattening, Wide anterior fontanel, Downs... OMIM:219200
Myopathy, Distal, 1
Tibialis anterior muscle atrophy, Scoliosis, Lumbar hyperlordosis, Distal lower limb muscle weakn... OMIM:160500
Proximal 16P11.2 Microduplication Syndrome
Scoliosis, Flat face, Sparse eyelashes, Hemivertebrae, Sparse eyebrow, Congenital diaphragmatic h... ORPHA:370079
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Flat face, Coronal cleft vertebrae, Short neck, Wide anterior fontanel, Hypopla... ORPHA:2347
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Limited elbow extension, Lumbar hyperlordosis, Ovoid vertebral bodies, Flat fa... OMIM:608728
Nonaka Myopathy
Distal lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Rimmed vacuol... OMIM:605820
Congenital Myopathy 5 With Cardiomyopathy
Scoliosis, Minicore myopathy, Myopathy, Weakness of facial musculature, Arrhythmia, Severely redu... OMIM:611705
Myasthenic Syndrome, Congenital, 14
Scoliosis, Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contrac... OMIM:616228
Schwartz-Jampel Syndrome
Scoliosis, Hip dysplasia, Abnormal eyebrow morphology, Spinal rigidity, Shoulder flexion contract... ORPHA:800
Arthrogryposis, Distal, Type 2B3
Camptodactyly, Scoliosis, Hallux valgus, Ulnar deviation of the hand, Downslanted palpebral fissu... OMIM:618436
Dysostosis, Stanescu Type
Macroglossia, Scoliosis, Abnormal metaphysis morphology, Flat face, Short neck, Bowing of the lon... ORPHA:1798
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Spinal rigidity, Small epiphyses, Cervical instability, Flat face, Short neck, Flat ac... ORPHA:94068
Mosaic Trisomy 9
Elbow dislocation, Camptodactyly of finger, Scoliosis, Hip dislocation, Spina bifida, Short neck,... ORPHA:99776
Desbuquois Dysplasia 2
Epicanthus, Hip dislocation, Advanced ossification of carpal bones, Round face, Broad thumb, Sing... OMIM:615777
Achondrogenesis Type 1B
Flat face, Short neck, Umbilical hernia, Micrognathia, Talipes equinovarus, Short foot ORPHA:93298
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Type 1 muscle fiber predominance, Necrotizing myopathy, Skeletal muscle a... ORPHA:178464
Emery-Nelson Syndrome
Camptodactyly of finger, Flat face, Interphalangeal thumb joint contracture, Metacarpophalangeal ... ORPHA:1927
Achondrogenesis Type 1A
Flat face, Short neck, Umbilical hernia, Short palm, Micrognathia, Short foot ORPHA:93299
Peroxisome Biogenesis Disorder 7A (Zellweger)
Flat face, Wide anterior fontanel, Death in infancy, Epiphyseal stippling, Talipes equinovarus OMIM:614872
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Rimme... OMIM:618655
Thanatophoric Dysplasia Type 2
Encephalocele, Abnormal metaphysis morphology, Flat face, Hydrocephalus, Holoprosencephaly, Kypho... ORPHA:93274
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Scoliosis, Congenital hip dislocation, Type 1 muscle fiber predominance, Central core regions in ... OMIM:117000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Scoliosis, Hip dislocation, Metaphyseal irregularity, Kyphoscoliosis, Flat capital femoral epiphy... ORPHA:93360
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Broad distal phalanges of all fingers, Scoliosis, Hip dislocation, Shoulder dislocation, Thick ey... OMIM:245600
Camptodactyly Syndrome, Guadalajara, Type Iii
Telecanthus, Camptodactyly, Torticollis, Small thenar eminence, Retrognathia, Absent phalangeal c... OMIM:611929
Congenital Myopathy 8
Scoliosis, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy... OMIM:618654
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Bowing of the legs, Lumbar hyperlordosis, Flat face ORPHA:156728
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Weakness of facial musculature, Z-band s... OMIM:181400
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Torticollis, Scoliosis, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Congenital... OMIM:613204
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ilia, Short neck, Flat face, Ovoid vertebral bodies, Metaphyseal cupping, Flat acetab... OMIM:151210
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Inc... OMIM:617760
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Hydrocephalus, Eyelid coloboma, Congenital diaphragmatic hernia, Short ... ORPHA:268249
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Shoulder flexion contracture, Foot joint contracture, Congenital finger flexion contra... ORPHA:536516
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Facial p... OMIM:500002
Orofaciodigital Syndrome Type 10
Oligodactyly, Retrognathia, Flat face, Metatarsal synostosis, Polysyndactyly of hallux, Preaxial ... ORPHA:2756
Camptodactyly Syndrome, Guadalajara Type 3
Telecanthus, Retrognathia, Sternocleidomastoid amyotrophy, Flat face, Short neck, Symblepharon, T... ORPHA:488434
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Minicore myopathy, Scoliosis, Myopathy, Spinal rigidity,... ORPHA:598
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Epicanthus, Flat face, Absent frontal sinuses, Round face, Palmoplantar keratoderma ORPHA:2536
Dominant Beta-Thalassemia
High-output congestive heart failure, Arrhythmia, Malar prominence, Upslanted palpebral fissure, ... ORPHA:231226
Abruzzo-Erickson Syndrome
Epicanthus, Ulnar deviation of finger, Flat face, Malar flattening, Toe syndactyly, Short toe, Ra... ORPHA:921
Blepharocheilodontic Syndrome 1
Flat face, Distichiasis, Lagophthalmos, Euryblepharon, Cutaneous syndactyly, Clinodactyly, Ectrop... OMIM:119580
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Hip dysplasia, Abnormality of the temporomandibular joint, Single transverse palmar cr... ORPHA:536471
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Flat face, Short fourth metatarsal, Short neck, Patellar hypoplasia, Abnormal facia... ORPHA:464288
Adult-Onset Nemaline Myopathy
Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: myopathic abnormalit... ORPHA:171442
Robinow Syndrome, Autosomal Dominant 1
Epicanthus, Upslanted palpebral fissure, Broad thumb, Brachydactyly, Bifid distal phalanx of toe,... OMIM:180700
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Scoliosis, Fiber type grouping, Lower limb muscle weakness, Type 1 muscle fiber predominance, Dis... OMIM:608340
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide anterior fontanel, Epiphyseal stippling, Flat face OMIM:614859
Achondrogenesis
Umbilical hernia, Short neck, Micrognathia, Flat face ORPHA:932
Jawad Syndrome
Retrognathia, Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finger, Thora... OMIM:251255
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Hand polydactyly, Congenital hip dislocation, Hydrocephalus, Eyel... ORPHA:1647
Oculopharyngeal Muscular Dystrophy
Myopathy, Abnormal muscle fiber morphology, Spondylolisthesis, Ptosis, Rimmed vacuoles, Ragged-re... ORPHA:270
Flat Face-Microstomia-Ear Anomaly Syndrome
Camptodactyly of finger, Scoliosis, Flat face, Malar flattening, Hypoplasia of the zygomatic bone... ORPHA:1968
Myopathy, Myofibrillar, 8
Scoliosis, Mitral regurgitation, Joint contracture of the 5th finger, Central core regions in mus... OMIM:617258
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Hand muscle weakness, Increased endomysial connective tissue, ... ORPHA:437572
Apert Syndrome
Flat face, Hydrocephalus, Downslanted palpebral fissures, Hypertension, Mandibular prognathia, Fi... ORPHA:87
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Muscle fiber splitting, Myopathy, Fatty replacement of skeletal muscle, Scap... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, EMG: myopathic abnormal... OMIM:608423
Congenital Myopathy 6 With Ophthalmoplegia
Scoliosis, Myopathy, Type 1 muscle fiber predominance, Scapular winging, Muscle fiber inclusion b... OMIM:605637
Bartsocas-Papas Syndrome 1
Oligodactyly, Short thumb, Ablepharon, Upslanted palpebral fissure, Absent eyelashes, Popliteal p... OMIM:263650
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Shoulder girdle muscle weakness, Decreased movement range in interphalangeal joints, Myopathy, Pr... OMIM:609115
Typical Nemaline Myopathy
Scoliosis, Hip dislocation, Type 1 muscle fiber predominance, Spinal rigidity, Narrow face, Facia... ORPHA:171436
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... OMIM:617030
Arthrogryposis, Distal, Type 2B1
Ulnar deviation of the wrist, Camptodactyly of finger, Scoliosis, Absent phalangeal crease, Dista... OMIM:601680
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Shoulder girdle muscle weakness, Myopathy, Distal amyotrophy, Pelvic girdle... OMIM:167320
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Facial cleft OMIM:607597
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Postaxial foot polydactyly, 3-4 finger syndactyly, Hydrocephalus, Umbilical... OMIM:175700
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Shoulder girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Fatty replace... ORPHA:266
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Lumbar hyperlordosis, Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber pred... ORPHA:86812
Congenital Myopathy 4A, Autosomal Dominant
Scoliosis, Lumbar hyperlordosis, Congenital hip dislocation, Ptosis, Facial palsy, Narrow face, C... OMIM:255310
Three M Syndrome 1
Hip dislocation, Short neck, Malar flattening, Increased vertebral height, Mandibular prognathia,... OMIM:273750
Developmental And Epileptic Encephalopathy 89
Death in childhood, Scoliosis, Flat face, Downslanted palpebral fissures, Upslanted palpebral fis... OMIM:619124
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy, EMG: myopathic abnormalities, Distal upp... ORPHA:603
Congenital Myopathy 19
Scoliosis, Skeletal muscle atrophy, Congenital contracture, Triangular face, Micrognathia, Facial... OMIM:618578
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Thoracic scoliosis, Short neck, Flat face OMIM:616994
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Congenital hip dislocation, Polydactyly, Dislocated radi... ORPHA:3269
Myopathy, Centronuclear, 1
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... OMIM:160150
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Scoliosis, Left ventricular systolic dysfunction, Lumbar hyperlordosis, EMG: myopat... ORPHA:353
Beta-Thalassemia Major
High-output congestive heart failure, Arrhythmia, Malar prominence, Upslanted palpebral fissure, ... ORPHA:231214
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Cardiomyopathy, Flexion contracture of finger, Increased endom... ORPHA:206549
20Q11.2 Microduplication Syndrome
Limited elbow extension, Epicanthus, Retrognathia, Flat face, Downslanted palpebral fissures, Sac... ORPHA:363659
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Muscle fiber hyaline bodies, Scoliosis, Proximal amyotrophy, Fourth hea... OMIM:255160
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Scoliosis, Mandibular prognathia, Facial asymmetry, Tapered finger, Broa... ORPHA:1236
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Scoliosis, Flat face, Abnormality of the vertebral column, Downs... ORPHA:2062
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Myopathy, Ptosis, Facial palsy, Dilated cardiomyopathy, Micrognathia, ... OMIM:300580
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Camptodactyly, Scoliosis, Retrognathia, Conical incisor, Epicanthus, Flat face, Malar flattening,... OMIM:235510
Classic Multiminicore Myopathy
Scoliosis, Absent muscle fiber merosin, Hip dysplasia, Weakness of facial musculature, Muscle fib... ORPHA:324604
Myopathy, Scapulohumeroperoneal
Scoliosis, Wrist drop, Skeletal muscle atrophy, Nemaline bodies, Scapular winging, Achilles tendo... OMIM:616852
Grant Syndrome
Flat face, Facial asymmetry, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morpho... ORPHA:2097
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Lower limb amyotrophy, Upper limb amyotrophy, Intrinsic hand muscle... ORPHA:90103
Chondrodysplasia Punctata 2, X-Linked Dominant
Stippled calcification in carpal bones, Scoliosis, Bilateral talipes equinovarus, Flat face, Mala... OMIM:302960
Joubert Syndrome 18
Camptodactyly, Retrognathia, Postaxial polydactyly, Trident pelvis, Occipital encephalocele, Intr... OMIM:614815
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexion contracture, Ske... OMIM:616313
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short distal phalanx of finger, Scoliosis, Vertebral wedging, Facial asymmetry, Biconvex vertebra... ORPHA:93315
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Facial palsy, Proximal muscle weakness in lower limbs, Ragged-red muscle fibers OMIM:616209
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip dislocation, Advanced ossification of carpal bones, Delayed proximal femoral epiphyseal ossif... OMIM:271640
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Epicanthus, Flat face, Proximal placement of thumb, Arrhythmia, Downslan... ORPHA:261211
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Bilateral talipes equinovarus, Weakness of facial musculature, Kyphosis, Flexion contr... OMIM:618484
Myopathy, Centronuclear, 2
Scoliosis, Intrauterine growth retardation, EMG: myopathic abnormalities, Kyphosis, Scapular wing... OMIM:255200
Trisomy 12P
Epicanthus, Flat face, Malar flattening, Short neck, Thick eyebrow, Micrognathia, Large hands, Cl... ORPHA:1699
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Epicanthus, Polydactyly, Flat face, Intrauterine growth retardation, Hypoplastic ischia OMIM:616910
Acrofacial Dysostosis, Weyers Type
Overlapping fingers, Facial cleft, Advanced eruption of teeth, Postaxial hand polydactyly, Small ... ORPHA:952
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Proximal placement of thumb, Thick eyebrow, Facial asymmetry, Toe syndactyly, Highly arched eyebr... OMIM:610759
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Scoliosis, EMG: myopathic abnormalities, Facial palsy, Muscle fiber necr... OMIM:614399
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, Death in childhood, Single transverse palmar crease, Epicanthus, Flat face, Malar f... OMIM:214100
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Weakness of facial musculature, Type 2 muscle fiber atrophy, Facial palsy, Micrognathi... OMIM:608930
Apert Syndrome
Shallow orbits, Broad thumb, Preaxial hand polydactyly, Cutaneous finger syndactyly, Flat face, M... OMIM:101200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Epicanthus, Tricuspid regurgitation, Round face, Epiphyseal stippling, Single transverse palmar c... OMIM:614866
Frontofacionasal Dysplasia
Encephalocele, Telecanthus, Upper eyelid coloboma, Limbal dermoid, Blepharophimosis, Aplasia/Hypo... ORPHA:1791
Congenital Myopathy 2A, Typical, Autosomal Dominant
Scoliosis, Retrognathia, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Nemaline... OMIM:161800
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Flat face, Coxa valga, Round face, Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Br... OMIM:132450
Bone Dysplasia, Lethal Holmgren Type
Abnormal diaphysis morphology, Flat face, Short neck, Abnormality of the elbow, Abnormality of th... ORPHA:1842
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QTc interval, Scoliosis, Short metatarsal, Small finger, Facial asymmetry, Short palpeb... OMIM:170390
Larsen Syndrome
Spondylolysis, Scoliosis, Hip dislocation, Short metatarsal, Shallow orbits, Tapered humerus, Hyp... OMIM:150250
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Epicanthus, Flat face, Syndactyly, Abnormal facial shape, Blepharophimosis OMIM:616006
Poliomyelitis
Hypovolemic shock, Abnormal skeletal muscle morphology, Hypotension, Lower limb muscle weakness, ... ORPHA:2912
Orofaciodigital Syndrome Xv
Flat face, Postaxial hand polydactyly, Duplication of phalanx of hallux, Broad hallux, Agenesis o... OMIM:617127
Congenital Myopathy 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Death... OMIM:618414
Blepharocheilodontic Syndrome 2
Flat face, Distichiasis, Lagophthalmos, Facial asymmetry, Cutaneous syndactyly, Euryblepharon, Ec... OMIM:617681
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Muscle fiber necro... OMIM:618848
Intellectual Developmental Disorder, Autosomal Dominant 23
Scoliosis, Postaxial polydactyly, Synophrys, Downslanted palpebral fissures, Sacral dimple, Kypho... OMIM:615761
Congenital Myopathy 23
Facial diplegia, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Nemaline bodies, Scap... OMIM:609285
Czeizel-Losonci Syndrome
Single transverse palmar crease, 2-3 finger syndactyly, 3-4 finger syndactyly, Aplasia of the lef... ORPHA:2437
Fountain Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Epicanthus, Spina bifida, S... ORPHA:3219
3Mc Syndrome 3
Diastasis recti, Preaxial polydactyly, Sacral dimple, Epicanthus inversus, Highly arched eyebrow,... OMIM:248340
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Flat face, Synophrys, Downslanted palpebral fissures, Ectropion, Thick eyebrow, Round face, Long ... OMIM:602562
Arthrogryposis, Distal, Type 5
Absent phalangeal crease, Scoliosis, Epicanthus, Distal arthrogryposis, Limited wrist extension, ... OMIM:108145
Distal Deletion 12Q
Single transverse palmar crease, Flat face, Overlapping toe, Aplasia/Hypoplasia of the middle pha... ORPHA:96149
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis anterior muscle atrophy, Scoliosis, Shoulder girdle muscle weakness, Facial diplegia, St... ORPHA:98905
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Retrognathia, Epicanthus, Intrauterine growth retardation, Triangular face, 2-3 toe sy... OMIM:617352
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... OMIM:618940
Cebalid Syndrome
Flat face, Downslanted palpebral fissures, Thick eyebrow, Highly arched eyebrow, Congenital diaph... OMIM:618774
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle w... OMIM:601954
Cerebrooculonasal Syndrome
Epicanthus, Upslanted palpebral fissure, Postaxial hand polydactyly, Sparse eyebrow, Sparse eyela... ORPHA:66625
Short-Rib Thoracic Dysplasia 12
Short finger, Epicanthus, Flat face, Hydrocephalus, Short neck, Holoprosencephaly, Hypoplastic sc... OMIM:269860
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Abnormality of the palpebral fissures, Scoliosis, Arthrogryposis multiplex congenita, Minicore my... ORPHA:178148
Zellweger Syndrome
Epicanthus, Flat face, Wide anterior fontanel, Death in infancy, Upslanted palpebral fissure, Epi... ORPHA:912
Kleefstra Syndrome 1
Macroglossia, Flat face, Malar flattening, Synophrys, Mandibular prognathia, Persistence of prima... OMIM:610253
Contractural Arachnodactyly, Congenital
Scoliosis, Congenital finger flexion contractures, Kyphoscoliosis, Camptodactyly, Mitral regurgit... OMIM:121050
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Spina bifida, Short neck, Abnormality of the vertebral col... ORPHA:2345
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Scoliosis, Wide anterior fontanel, Kyphosis, Slender long bone, ... OMIM:259420
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Ulnar deviation of the hand, Bilateral elbow disloc... OMIM:166300
Intellectual Developmental Disorder, X-Linked 30
Flat face, Prominent fingertip pads, Upslanted palpebral fissure, Hydrocephalus OMIM:300558
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Cervical spine instabilit... OMIM:615349
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Autosomal Recessive Centronuclear Myopathy
Retrognathia, Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Sc... ORPHA:169186
Alpha-Mannosidosis, Infantile Form
Macroglossia, Mitral regurgitation, Bilateral coxa valga, Bilateral talipes equinovarus, Myopathy... ORPHA:309282
Congenital Myopathy With Myasthenic-Like Onset
Rhabdomyolysis, Scoliosis, Minicore myopathy, Myopathy, Type 1 muscle fiber predominance, EMG: my... ORPHA:424107
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Scoliosis, Lumbar hyperlordosis, Short thumb, Overlapping fingers... OMIM:618167
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Scoliosis, Skeletal muscle atrophy, Intrauterine growth retardation, Triangular face, Micrognathi... OMIM:615419
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Camptodactyly, Hip dislocation, Tapered finger, Brachydactyly, Shor... OMIM:618435
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Spinal rigidity, Achilles tendon contracture, Supraventric... ORPHA:98863
Infantile-Onset X-Linked Spinal Muscular Atrophy
Spinal muscular atrophy, Potter facies, Weakness of facial musculature, Inflammatory myopathy, Kn... ORPHA:1145
Acromesomelic Dysplasia 4
Prominent deltoid tuberosities, Short metatarsal, Thick eyebrow, Broad finger, Short toe, Metaphy... OMIM:619636
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Polydactyly, Absent or minimally ossified vertebral bodies, Short ... ORPHA:1505
Joubert Syndrome 15
Exencephaly OMIM:614464
Treacher-Collins Syndrome
Encephalocele, Retrognathia, Blepharospasm, Malar flattening, Abnormality of the vertebral column... ORPHA:861
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Lumbar hyperlordosis, Myopathy, Type 1 muscle fiber predominance, Knee flexion contrac... ORPHA:353327
Larsen Syndrome
Short distal phalanx of finger, Scoliosis, Flat face, Malar flattening, Finger syndactyly, Abnorm... ORPHA:503
Myopathy, Myofibrillar, 7
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Skeletal muscle atrophy, Nemaline bodies, Tal... OMIM:617114
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Short neck, Flat face, Upslanted palpebral fissure, Broad thumb, Micrognathia, Clinodactyly of th... ORPHA:2001
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Spinal rigidity, Achilles tendon contracture, Supraventric... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Spinal rigidity, Achilles tendon contracture, Supraventric... ORPHA:98853
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Cardiomyopathy, Fatty... OMIM:301075
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Downslanted palpebral fissures, Skeletal muscle atrophy, Abnormal hip ... ORPHA:3068
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Scoliosis, Epicanthus, Thick eyebrow, Upslanted palpebral fissure, Long fingers, Highly arched ey... OMIM:213980
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Long eyelashes, Umbilical hernia, Skeletal muscle atrophy, Wide distal femoral metaphy... OMIM:614856
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Scoliosis, Hip dislocation, Increased laxity of fingers,... OMIM:254090
Nicolaides-Baraitser Syndrome
Scoliosis, Long eyelashes, Curly eyelashes, Abnormal finger morphology, Downslanted palpebral fis... ORPHA:3051
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, Cardiomyopathy, EMG: ... ORPHA:609
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Scoliosis, Retrognathia, Long eyelashes, Short neck, Increased variability in muscle fiber diamet... OMIM:619026
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Scoliosis, Muscular dystrophy, Spinal rigidity, Increased endomysial connective tissue, Centrally... OMIM:617066
Congenital Myopathy 1B, Autosomal Recessive
Scoliosis, Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Ptosi... OMIM:255320
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle weakness, Scapula... OMIM:619477
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Abnormal mitochondria in muscle tissue, Proximal muscle weak... ORPHA:59135
Spinal Muscular Atrophy, Type Iv
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Type 1 muscle fiber pred... OMIM:271150
Congenital Myopathy 18
Scoliosis, Fatty replacement of skeletal muscle, Increased endomysial connective tissue, Centrall... OMIM:620246
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Spinal rigidity, Achilles tendon contracture, Supraventric... ORPHA:98855
Myasthenic Syndrome, Congenital, 5
Scoliosis, Myopathy, Decreased muscle mass, Type 1 muscle fiber predominance, Type 2 muscle fiber... OMIM:603034
Ulnar Hemimelia
Scoliosis, Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality o... ORPHA:93320
Down Syndrome
Macroglossia, Epicanthus, Flat face, Short neck, Umbilical hernia, Upslanted palpebral fissure, C... ORPHA:870
Campomelic Dysplasia
Scoliosis, Hip dislocation, Flat face, Hypoplastic inferior ilia, Bowing of the long bones, Short... ORPHA:140
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal... OMIM:253700
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Mucopolysaccharidosis Type 7
Scoliosis, Flat face, Short neck, Umbilical hernia, Abnormal hip bone morphology, Anterior beakin... ORPHA:584
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Camptodactyly, Scoliosis, Long eyelashes, Flat face, Malar flattening, Downslanted palpebral fiss... OMIM:601353
Walker-Warburg Syndrome
Hydrocephalus, Muscular dystrophy, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skel... ORPHA:899
Icf Syndrome
Macroglossia, Epicanthus, Flat face, Communicating hydrocephalus, Umbilical hernia, Micrognathia ORPHA:2268
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Intrinsic hand muscle atrophy, Distal lower limb muscle ... ORPHA:276435
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Skeletal muscle atrophy, Mandibular prognathia, Facial palsy, Type 2 muscl... OMIM:608931
Sandhoff Disease, Adult Form
Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Muscle fiber atrophy ORPHA:309169
Nevus Comedonicus Syndrome
Scoliosis, Preaxial polydactyly, Spina bifida, Finger syndactyly, Toe syndactyly, Spina bifida oc... ORPHA:64754
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Tibialis muscle weakness, Rimmed vacuoles,... ORPHA:178400
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Muscle fiber ... ORPHA:399058
King-Denborough Syndrome
Scoliosis, Minicore myopathy, Lumbar hyperlordosis, Thoracic kyphosis, Short neck, Bilateral ptos... OMIM:619542
Chromosome 17P13.1 Deletion Syndrome
Scoliosis, Epicanthus, Hip dysplasia, Proximal placement of thumb, Facial asymmetry, Highly arche... OMIM:613776
Cap Myopathy
Lower limb amyotrophy, Lumbar hyperlordosis, Lower limb muscle weakness, Sinus tachycardia, Abnor... ORPHA:171881
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dy... OMIM:254110
Central Core Disease
Congenital hip dislocation, Myopathy, Type 1 muscle fiber predominance, Central core regions in m... ORPHA:597
3M Syndrome
Scoliosis, Thick eyebrow, Rocker bottom foot, Hypoplastic pelvis, Short neck, Intrauterine growth... ORPHA:2616
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Elbow extension contracture, Thoracic kyphoscoliosis, Joint contrac... OMIM:616503
Oculopharyngodistal Myopathy 3
Distal amyotrophy, Weakness of facial musculature, Increased endomysial connective tissue, Rimmed... OMIM:619473
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Vertebral wedging, Platyspondyly, Anterior radial head d... OMIM:610967
Aymé-Gripp Syndrome
Camptodactyly, Scoliosis, Long eyelashes, Bilateral ptosis, Flat face, Hydrocephalus, Downslanted... ORPHA:1272
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Kyphosis, Proximal muscle weakness in upper limbs, Inter... OMIM:618138
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Epicanthus, Flat face, Malar flattening, Sinusitis, Micrognathia OMIM:242860
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, Scoliosis, 2-3 finger syndactyly, Epicanthus, Pulmoni... ORPHA:435638
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Weakness of facial musculature, Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibe... OMIM:617069
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Limited elbow extension, Scoliosis, Bifid distal phalanx of toe, Hip dysplasia, ... OMIM:618419
Duane-Radial Ray Syndrome
Scoliosis, Epicanthus, Short thumb, Aplasia of metacarpal bones, Shoulder dislocation, Facial asy... OMIM:607323
Robinow-Sorauf Syndrome
Hallux valgus, Bilateral ptosis, Flat face, Malar flattening, Downslanted palpebral fissures, Sha... OMIM:180750
Skin Creases, Congenital Symmetric Circumferential, 1
Epicanthus, Short neck, Flat face, Upslanted palpebral fissure, Short palpebral fissure, Long fin... OMIM:156610
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Arrhythmia, Kyphosis, Spinal rigidity, Ptosis, Facial palsy, Dilated cardiom... OMIM:615084
Mesomelia-Synostoses Syndrome
Abnormality of the humerus, Abnormal eyebrow morphology, Metatarsal synostosis, Abnormality of th... ORPHA:2496
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Flat face, Flat acetabular roof, Short metacarpal, Microg... OMIM:211350
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Scoliosis, Short neck, Downslanted palpebral fissures, Knee flexion contracture, Intrauterine gro... ORPHA:371364
Distal Duplication 18Q
Deviation of finger, Camptodactyly of finger, Short neck, Arachnodactyly, Progressive interverteb... ORPHA:1716
Chromosome 3Pter-P25 Deletion Syndrome
Epicanthus, Retrognathia, Postaxial polydactyly, Overlapping toe, Synophrys, Sacral dimple, Upsla... OMIM:613792
Monosomy 22
Narrow palpebral fissure, Epicanthus, Retrognathia, Clubbing, Flat face, Short neck, Synophrys, F... ORPHA:96123
Mucolipidosis Type Ii
Epicanthus, Hip dislocation, Abnormal long bone morphology, Cardiomyopathy, Shallow orbits, Diast... ORPHA:576
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Single transverse palmar crease, Scoliosis, Small face, Flat face, Palmoplantar cutis gyrata, Cox... OMIM:130070
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Lumbar hyperlordosis, Prominent protruding coccyx, Spina bifida, Hydrane... ORPHA:2839
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Reduced left ventricular ejection fraction, Death in infancy, Neonatal death,... OMIM:614096
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hip dislocation, Limb hypertonia, Downslanted palpebral fissures, Skeletal muscle atrophy, Thorac... ORPHA:481152
20P13 Microdeletion Syndrome
Narrow palpebral fissure, Polydactyly, Synophrys, Wide anterior fontanel, Finger syndactyly, Down... ORPHA:313781
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Camptodactyly, Epicanthus, Short neck, Arthrogryposis-like hand anomaly, Umbilical ... ORPHA:369891
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Spina bifida, Proximal placement of thumb, Abnormal ... ORPHA:1120
Meckel Syndrome, Type 10
Narrow palpebral fissure, Postaxial foot polydactyly, Camptodactyly, Epicanthus, Postaxial polyda... OMIM:614175
Myopathy, Distal, Tateyama Type
Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, ... OMIM:614321
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Syndactyly, Unilatera... OMIM:173800
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Flat face, Downslanted palpebral fissures, Mandibular pr... OMIM:619103
Legius Syndrome
Epicanthus, Short neck, Supravalvar pulmonary stenosis, Downslanted palpebral fissures, Triangula... OMIM:611431
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611615
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness in lower limbs, Myopathy, Muscle fiber inclusion bodies, Limb-girdle mus... OMIM:615424
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Cardiomyopathy, EMG: myopathic abnormalities, Fatty replacement of... ORPHA:399086
Menke-Hennekam Syndrome 1
Scoliosis, Epicanthus, Hip dysplasia, Thick eyebrow, Upslanted palpebral fissure, Short palpebral... OMIM:618332
Branchioskeletogenital Syndrome
Telecanthus, Flat face, Short neck, Umbilical hernia, Abnormality of the vertebral spinous proces... ORPHA:1299
Alazami Syndrome
Narrow palpebral fissure, Scoliosis, Malar flattening, Short palpebral fissure, Triangular face OMIM:615071
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... OMIM:617072
Intellectual Developmental Disorder, Autosomal Dominant 36
Scoliosis, Hip dysplasia, Hydrocephalus, Postaxial polydactyly, Downslanted palpebral fissures, F... OMIM:616362
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Epicanthus, Flat face, Malar flattening, Microretrognathia, Multiple pterygia, Pterygium, Talipes... OMIM:177980
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Flexion contracture, Congenital muscular dystrophy, Increased endomysial connective tissue, Kypho... OMIM:607855
Ring Chromosome 7 Syndrome
Lumbar kyphoscoliosis, Epicanthus, Bilateral ptosis, Flat face, Malar flattening, Downslanted pal... ORPHA:1449
Phosphoribosylaminoimidazole Carboxylase Deficiency
Flat face, Short neck, Neonatal death, Lumbar hemivertebrae, Talipes equinovarus, Clinodactyly of... OMIM:619859
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy OMIM:609500
Trichorhinophalangeal Syndrome Type 1
Camptodactyly of finger, Scoliosis, Short distal phalanx of finger, Avascular necrosis of the cap... ORPHA:77258
Congenital Myopathy 3 With Rigid Spine
Scoliosis, Minicore myopathy, Type 1 muscle fiber predominance, Muscular dystrophy, Spinal rigidi... OMIM:602771
Gm1-Gangliosidosis, Type Ii
Scoliosis, Flat face, Hypoplastic vertebral bodies, Coxa valga, Platyspondyly, Beaking of vertebr... OMIM:230600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ptosis, Facial palsy, EMG: myopathic abnormalities, Ragged-red muscle fibers OMIM:609283
Chromosome 15Q26-Qter Deletion Syndrome
Intrauterine growth retardation, Micrognathia, Short middle phalanx of finger, Triangular face, T... OMIM:612626
Bethlem Myopathy
Camptodactyly of finger, Scoliosis, Reduced muscle collagen VI, Spinal rigidity, Achilles tendon ... ORPHA:610
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle weakness, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle fiber pr... OMIM:608358
15Q24 Microdeletion Syndrome
Scoliosis, Epicanthus, Myelomeningocele, Proximal placement of thumb, Abnormal thumb morphology, ... ORPHA:94065
Trisomy 20P
Camptodactyly of finger, Scoliosis, Epicanthus, Thick eyebrow, Upslanted palpebral fissure, Round... ORPHA:261318
Hemihyperplasia, Isolated
Scoliosis, Skeletal muscle hypertrophy, Myelomeningocele OMIM:235000
Nut Midline Carcinoma
Neoplasm, Ewing sarcoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cel... ORPHA:443167
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Enamel hypoplasia, Carious teeth, Increased variabili... OMIM:226670
Simosa Craniofacial Syndrome
Flat face, Malar flattening, Highly arched eyebrow, Sparse eyebrow, Blepharophimosis, Long face, ... OMIM:182150
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Scoliosis, Minicore myopathy, EMG: myopathic abnormalities, Spinal rigidity, Centrally nucleated ... ORPHA:486815
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Achondrogenesis, Type Ia
Hypoplastic sacrum, Flat face, Short neck, Abnormal femoral metaphysis morphology, Hypoplastic sc... OMIM:200600
Constricting Bands, Congenital
Encephalocele, Hand polydactyly, Scoliosis, Eyelid coloboma, Syndactyly, Talipes equinovarus, Fac... OMIM:217100
17P11.2 Microduplication Syndrome
Downslanted palpebral fissures, Scoliosis, Triangular face, Micrognathia ORPHA:1713
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Scoliosis, Mitral regurgitation, Bilateral ptosis, Weakness of facial musculature, Cardiomyopathy... OMIM:258450
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Micrognathia, Increased variability in muscle fiber diameter, Hyp... OMIM:617228
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Scoliosis, Epicanthus, Short neck, Downslanted palpebral fissures, Intrauterine growth retardatio... OMIM:616801
Kbg Syndrome
Scoliosis, Vertebral fusion, Thoracic kyphosis, Short neck, Synophrys, Thick eyebrow, Round face,... ORPHA:2332
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, Type 2 muscle fiber atrophy, Wea... OMIM:160565
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Distal Deletion 10Q
Epicanthus, Hip dislocation, Hip dysplasia, Short metatarsal, Upslanted palpebral fissure, Facial... ORPHA:96148
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Increased endomysial connective tissue, Increase... OMIM:613157
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Increased vari... OMIM:612937
Three M Syndrome 2
Lumbar hyperlordosis, Short neck, Malar flattening, Intrauterine growth retardation, Slender long... OMIM:612921
Omodysplasia 1
Limited elbow extension, Anterolateral radial head dislocation, Short humerus, Epicanthus, Narrow... OMIM:258315
Otopalatodigital Syndrome, Type Ii
Spondylolysis, Short thumb, Broad face, Short metatarsal, Rocker bottom foot, Toe syndactyly, Bro... OMIM:304120
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Myopathy, Myofibrillar, 2
Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Lower limb muscle ... OMIM:608810
Andersen-Tawil Syndrome
Prolonged QTc interval, Scoliosis, Facial asymmetry, Short palpebral fissure, Abnormal T-wave, To... ORPHA:37553
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Ptosis OMIM:617070
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Z... OMIM:619178
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Scoliosis, Myopathy, Skeletal muscle atrophy, Proximal l... OMIM:310440
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Shoulder girdle muscle weakness, Type 1 muscle fiber predominance, Triceps weakness, S... ORPHA:98913
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Muscular dystrophy, Cardiomyopathy, Arrhythmia, Scapular winging, ... OMIM:612999
Wiedemann-Steiner Syndrome
Epicanthus, Long eyelashes, Flat face, Synophrys, Abnormality of the elbow, Sacral dimple, Abnorm... ORPHA:319182
Skin Creases, Congenital Symmetric Circumferential, 2
Epicanthus, Flat face, Short neck, Synophrys, Downslanted palpebral fissures, Upslanted palpebral... OMIM:616734
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Death in childhood, Flat face, Umbilical hernia, Arrhythmia, Hypertension, Intrauterine growth re... OMIM:614052
Genitourinary And/Or Brain Malformation Syndrome
Colpocephaly, Epicanthus, Flat face, Agenesis of corpus callosum, Holoprosencephaly, Syndactyly, ... OMIM:618820
Stickler Syndrome, Type Iv
Flat face, Irregular capital femoral epiphysis, Flat capital femoral epiphysis, Epiphyseal dyspla... OMIM:614134
Cutis Laxa, Autosomal Recessive, Type Iib
Scoliosis, Congenital hip dislocation, Hydrocephalus, Decreased muscle mass, Malar flattening, Do... OMIM:612940
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Weakness of facial musculature, Arrhythmia, Kyphosis, Spinal rigidity, Ptosis, Dilated ... ORPHA:352447
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal long bone morphology, Abnormality of the vertebral column, Cardiomyopathy, EMG: myopathi... ORPHA:52430
Kearns-Sayre Syndrome
Third degree atrioventricular block, Progressive intervertebral space narrowing, Skeletal muscle ... ORPHA:480
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Downslanted palpebral fissures, Kyphoscoliosis, Postaxial pol... OMIM:612913
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Distal Duplication 5Q
Epicanthus, Flat face, Downslanted palpebral fissures, Carious teeth, Hypoplasia of the ulna, Mic... ORPHA:96097
Menke-Hennekam Syndrome 2
Epicanthus, Flat face, Square face, Overlapping toe, Upslanted palpebral fissure, Short palpebral... OMIM:618333
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Hydrocephalus, Postaxial polydactyly, Knee flexion contracture, Skeletal mu... OMIM:603387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty ... OMIM:608807
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased variability in... OMIM:302045
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Polydactyly, Short neck, Malar flattening, Flattened epiphysis, Tapered fin... OMIM:607131
Al Kaissi Syndrome
Torticollis, Epicanthus, Synophrys, Downslanted palpebral fissures, Sacral dimple, Deep palmar cr... OMIM:617694
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Scoliosis, Retrognathia, Epicanthus, Joint contracture of the 5th finger, Synophrys, Downslanted ... OMIM:620098
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Abnormal diaphysis morphology, Decreased muscle mass, Triangular ... ORPHA:73230
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle fiber morphology, Ri... ORPHA:34516
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Scoliosis, Congenital hip dislo... ORPHA:457279
Carpenter Syndrome
Polydactyly, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe synd... ORPHA:65759
Multiple Sulfatase Deficiency
Flat face, Hydrocephalus, Hypoplastic vertebral bodies, Broad thumb, Coarse facial features, Broa... OMIM:272200
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Scoliosis, Short neck, Meningocele, Umbilical hernia, Finger syndactyly,... ORPHA:2311
Wildervanck Syndrome
Short neck, Meningocele, Facial asymmetry, Facial palsy, Fused cervical vertebrae ORPHA:3456
Chromosome 10Q26 Deletion Syndrome
Single transverse palmar crease, Limited elbow extension, Epicanthus, Lumbar hyperlordosis, Conge... OMIM:609625
Vitamin K Antagonist Embryofetopathy
Macroglossia, Short distal phalanx of finger, Myelomeningocele, Hydrocephalus, Short neck, Intrau... ORPHA:1914
Congenital Disorder Of Glycosylation, Type Ii
Epicanthus, Upslanted palpebral fissure, Flat face OMIM:607906
Myasthenic Syndrome, Congenital, 12
Ptosis, Facial palsy, Proximal amyotrophy, Ragged-red muscle fibers OMIM:610542
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Hip dislocation, Epicanthus, Rocker bottom foot, Intercrural pterygium, Popliteal pter... OMIM:265000
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Retrognathia, Enamel hypoplasia, Increased variability in muscle fiber diameter OMIM:617915
Orofaciodigital Syndrome Xvii
Retrognathia, Polydactyly, Short neck, Clubbing of fingers, Partial duplication of thumb phalanx,... OMIM:617926
Nail-Patella Syndrome
Absence of pectoralis minor muscle, Scoliosis, Hypoplastic radial head, Iliac horns, Triceps apla... OMIM:161200
Al-Raqad Syndrome
Brachydactyly, Sandal gap, Flat face OMIM:616459
Ruijs-Aalfs Syndrome
Single transverse palmar crease, Down-sloping shoulders, Thoracic kyphoscoliosis, Skeletal muscle... OMIM:616200
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Upper limb amyotrophy, Muscle fiber splitting, Myopathy, Lower limb muscle... OMIM:616924
Marinesco-Sjogren Syndrome
Scoliosis, Myopathy, Short metatarsal, Skeletal muscle atrophy, Coxa valga, Kyphosis, Short metac... OMIM:248800
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Joint contr... OMIM:610099
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Phaver Syndrome
Camptodactyly of finger, Butterfly vertebrae, Ulnar deviation of finger, Epicanthus, Short thumb,... ORPHA:2876
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities... OMIM:253601
Marshall Syndrome
Hypoplastic frontal sinuses, Flat face, Malar flattening, Sparse eyebrow, Genu valgum, Micrognath... ORPHA:560
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Muscle fiber splitting, Myofibrillar myopathy, Nemaline bodies,... ORPHA:97240
Bardet-Biedl Syndrome 7
Polydactyly, Postaxial polydactyly, Malar flattening, 2-3 toe syndactyly, Clinodactyly OMIM:615984
Myopathy, Centronuclear, 5
Mitral regurgitation, Retrognathia, Weakness of facial musculature, Micrognathia, Centrally nucle... OMIM:615959
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Long face, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Pelger-Huet Anomaly
Polydactyly, Umbilical hernia, Short 4th metacarpal, Kyphosis, Short 3rd metacarpal, Lower limb h... OMIM:169400
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Scoliosis, Short thumb, Carpal synostosis, Flared iliac wing, Fibular ap... ORPHA:90652
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Epicanthus, Hydrocephalus, Radial bowing, Preaxial polydactyly, Postaxial polydactyly, Vertebral ... OMIM:617866
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Diastasis recti, Polydactyly, Triangular face, Upper limb asymmetry, Clinodactyly of the 5th finger ORPHA:231140
Lethal Congenital Contracture Syndrome 10
Macroglossia, Torticollis, Short neck, Downslanted palpebral fissures, Intrauterine growth retard... OMIM:617022
Fraser Syndrome 1
Encephalocele, Cryptophthalmos, Upper eyelid coloboma, Myelomeningocele, Hydrocephalus, Lacrimal ... OMIM:219000
12Q14 Microdeletion Syndrome
Scoliosis, Synophrys, Skeletal muscle atrophy, Intrauterine growth retardation, Thick eyebrow, Tr... ORPHA:94063
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Bilateral talipes equinovarus, Preaxial polydactyly, Overlapping toe, Postaxial pol... OMIM:618142
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Scoliosis, Epicanthus, Short neck, Meningocele, Umbilical hernia, Mala... ORPHA:2789
Native American Myopathy
Camptodactyly, Progressive congenital scoliosis, Bilateral ptosis, Downslanted palpebral fissures... ORPHA:168572
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Centr... ORPHA:2593
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Spina bifida, Small hypothe... OMIM:211960
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Palmar pits, Scoliosis, Vertebral fusion, Polydactyly, Spina bifida, Hydr... OMIM:109400
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Scapular winging, Ce... OMIM:601846
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Macroglossia, Epicanthus, Flat face, Death in infancy, Clinodactyly of the 5th finger, Talipes eq... ORPHA:847
Down Syndrome
Macroglossia, Epicanthus, Flat face, Malar flattening, Upslanted palpebral fissure, Atlantoaxial ... OMIM:190685
Lateral Meningocele Syndrome
Scoliosis, Vertebral fusion, Hydrocephalus, Decreased muscle mass, Umbilical hernia, Meningocele,... OMIM:130720
Bruck Syndrome
Scoliosis, Kyphosis, Platyspondyly, Triangular face, Pterygium, Talipes equinovarus, Arthrogrypos... ORPHA:2771
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Waardenburg Syndrome Type 1
Scoliosis, Spina bifida, Meningocele, Synophrys, Mandibular prognathia, Thick eyebrow, White eyel... ORPHA:894
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Scoliosis, Ragged-red muscle fibers OMIM:618416
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacem... OMIM:619790
Ayme-Gripp Syndrome
Camptodactyly, Flat face, Malar flattening, Downslanted palpebral fissures, Mandibular prognathia... OMIM:601088
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Scoliosis, Thoracic hemivertebrae, Postaxial polydactyly, Mandibular prognathia, Tapered finger, ... OMIM:619721
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed... OMIM:603511
Halperin-Birk Syndrome
Death in childhood, Colpocephaly, Long eyelashes, Hip dislocation, Umbilical hernia, Semilobar ho... OMIM:618651
Marfanoid-Progeroid-Lipodystrophy Syndrome
Retrognathia, Hydrocephalus, Downslanted palpebral fissures, Hypertension, Keratoconjunctivitis s... OMIM:616914
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Necklace skeletal muscle fibers, Abnormal facial shape, Centrally... ORPHA:596
Potocki-Lupski Syndrome
Scoliosis, Downslanted palpebral fissures, Mandibular prognathia, Dental malocclusion, Triangular... OMIM:610883
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hip dislocation, Abnormality of the hand, Short palpebral fissure, Broad thumb, Short 5th finger,... ORPHA:508498
Spastic Paraplegia Type 7
Scoliosis, Lower limb muscle weakness, Upper limb muscle weakness, Lower limb hypertonia, Ragged-... ORPHA:99013
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Shoulder girdle muscle weakness, Muscle fiber splitting, Myofibrillar myopathy, Scapular winging,... OMIM:603689
Myasthenic Syndrome, Congenital, 19
Retrognathia, Spinal rigidity, Facial palsy, Increased variability in muscle fiber diameter, Micr... OMIM:616720
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Distichiasis, Scapular winging, Micrognathia, Hyperlordosis, Ragged-red muscle fibers, Generalize... OMIM:600462
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Congenital muscular dystrophy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Noonan Syndrome 14
Limited elbow extension, Epicanthus, Pulmonic stenosis, Short neck, Downslanted palpebral fissure... OMIM:619745
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Long fingers, Triangular face, Long toe, Delayed eruption of teeth, A... OMIM:619489
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Preaxial polydactyly, Square face, Postaxial polydactyly, Upslant... OMIM:617927
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposits immunoreactive to bet... OMIM:254130
Leukodystrophy, Hypomyelinating, 10
Malar flattening, Downslanted palpebral fissures, Skeletal muscle atrophy, Upslanted palpebral fi... OMIM:616420
Peroxisome Biogenesis Disorder 3B
Malar flattening, Abnormal facial shape, Single transverse palmar crease, Flat face OMIM:266510
Congenital Myasthenic Syndrome
Frontalis muscle weakness, Congenital hip dislocation, Distal lower limb muscle weakness, Distal ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Frontalis muscle weakness, Congenital hip dislocation, Distal lower limb muscle weakness, Distal ... ORPHA:98914
Carey-Fineman-Ziter Syndrome
Scoliosis, Ulnar deviation of finger, Epicanthus, Myopathy, Downslanted palpebral fissures, Skele... ORPHA:1358
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Carpal synostosis, Fibular aplasia, Broad thumb, Abnormal shoulder ... OMIM:274000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial foot polydactyly, Scoliosis, Bilateral ptosis, Postaxial polydactyly, Downslanted palpe... ORPHA:404440
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Death in childhood, Facial diplegia, EMG: myopathic abnormalities, Generalized amyotrophy, Ragged... OMIM:609560
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Ragged-red muscle fibers OMIM:616794
Joubert Syndrome 7
Encephalocele, Scoliosis, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Ptosis OMIM:611560
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Short neck, Abnormal femoral epiphysis morphology, Umbilical hernia, Brac