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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
limb grasping Skiem1(IMPC)Bay HET Early adult 4.49×10-05
decreased locomotor activity Skiem1(IMPC)Bay HET Early adult 7.20×10-06
preweaning lethality, complete penetrance Skiem1(IMPC)Bay HOM   Early adult 0.00

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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
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Retrognathia, Camptodactyly of ... ORPHA:2462
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint contracture of the hand, Hypoplasia of the maxilla, Dental malocclusion, Umbilical hernia, ... OMIM:182212
1P36 Deletion Syndrome
Dilated cardiomyopathy, Horizontal eyebrow, Camptodactyly of finger, Abnormal eyebrow morphology,... 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
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Cleft palate, Torticollis, Shoulder muscle hypopl... ORPHA:3181
Frontometaphyseal Dysplasia 1
Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn... OMIM:305620
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Epicanthus, Blepharophimosis, Long face, Flat face, Short toe, Brachydactyly, Sac... ORPHA:1327
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Micrognathia, Neonatal death, Widening of... OMIM:253310
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e... OMIM:255800
Frontometaphyseal Dysplasia
Hypoplasia of the musculature, Joint contracture of the hand, Short distal phalanx of the thumb, ... ORPHA:1826
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Rhizomelic Chondrodysplasia Punctata, Type 1
Flat face, Rhizomelia, Flared metaphysis, Micrognathia, Epiphyseal stippling, Malar flattening, U... OMIM:215100
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Retrognathia, Downslanted palpebral fissu... 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, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft lip, Holoprosencep... OMIM:601357
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Hydranencephaly, Pterygium, Intrauterine growth retardation, Micro... OMIM:225790
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Flat face, Hypoplasia of the musculature, Small hypothenar eminence, Thin m... ORPHA:2463
Congenital Myopathy 22B, Severe Fetal
Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip contracture, Short neck, L... OMIM:620369
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Flat face, Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Small epiphyses, Lumb... OMIM:620269
Tetrasomy 5P
Flat face, Congestive heart failure, Overlapping toe, Micrognathia, Clinodactyly of the 5th finge... ORPHA:3309
Anophthalmia Plus Syndrome
Tessier cleft, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper lip, Cleft pa... ORPHA:1104
Rhizomelic Dysplasia, Patterson-Lowry Type
Flat face, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Large face, Ge... ORPHA:2831
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Flat face, Microretrognathia, Finger syndactyly, Camptodactyly of... ORPHA:2994
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2926
3Mc Syndrome 2
Abnormal vertebral morphology, Highly arched eyebrow, Hypoplasia of the musculature, Caudal appen... OMIM:265050
Unilateral Ocular Duplication
Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Mandibular prognathia, Flat face, Patc... ORPHA:1248
Larsen-Like Syndrome
Flat face, Dental malocclusion, Radial deviation of the 4th finger, Malar flattening, Kyphoscolio... OMIM:608545
Pde4D Haploinsufficiency Syndrome
Micrognathia, Broad phalanx, Bilateral coxa valga, Narrow palpebral fissure, Short metacarpal, Ir... ORPHA:439822
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate OMIM:600251
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Increased variability in muscle fiber diameter, Hip dislocation, Slender finger,... ORPHA:75840
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal vertebral morphology, Short 5th finger, Tessier cleft, Abnormality of the vertebral colu... OMIM:239800
Fibrochondrogenesis 1
Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Short neck, Br... OMIM:228520
Sprengel Deformity
Spina bifida occulta, Neck muscle hypoplasia, Shoulder muscle hypoplasia OMIM:184400
Autosomal Recessive Stickler Syndrome
Platyspondyly, Epiphyseal dysplasia, Flat face, Abnormal epiphysis morphology, Micrognathia, Genu... ORPHA:250984
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:559
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Flat face, Joint contracture of the hand, Micromelia, Broad long bones, Micrognathia, Encephaloce... OMIM:224400
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Flat face, Dental malocclusion, Left ventricular systolic dysfunction... OMIM:619719
Wiedemann-Steiner Syndrome
Small hand, Long hallux, Contracture of the distal interphalangeal joint of the fingers, Microgna... OMIM:605130
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Hypoplastic ilia, Flat face, Micromelia, Broad long bones, Clubbing of fingers, Pt... ORPHA:1865
Distal Monosomy 7Q36
Flat face, Large face, Micrognathia, Bilateral single transverse palmar creases, Upslanted palpeb... ORPHA:1636
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Chondrodysplasia With Joint Dislocations, Gpapp Type
Flat face, Short toe, Genu valgum, Micrognathia, Limited elbow extension, Intervertebral space na... OMIM:614078
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hip contracture, Talipes equinovarus, Short neck, Flexion contract... OMIM:193700
Acrodysostosis
Bowing of the long bones, Epicanthus, Abnormal metacarpal morphology, Abnormal morphology of the ... ORPHA:950
Kyphomelic Dysplasia
Flat face, Micromelia, Abnormal form of the vertebral bodies, Micrognathia, Bowing of the long bo... ORPHA:1801
Craniofacial-Deafness-Hand Syndrome
Narrow face, Hypoplasia of the maxilla, Ulnar deviation of finger, Flat face, Camptodactyly of fi... ORPHA:1529
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:93346
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Flat face, Sparse eyebrow, Dental malocclusion, Highly arched eye... OMIM:619293
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Epiphyseal dysplasia, Micrognathia, Fibular bowing, Short neck, Ab... ORPHA:1427
Oculomaxillofacial Dysostosis
Tessier cleft, Camptodactyly of finger, Micrognathia, Sparse or absent eyelashes, Upslanted palpe... ORPHA:1794
Intellectual Developmental Disorder, Autosomal Dominant 59
Flat face, Highly arched eyebrow, Long palpebral fissure, Brachydactyly, Short palm, Facial hypot... OMIM:618522
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal hip bone morphology, Polydactyly, Upper limb phocom... ORPHA:294975
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Flat face, Hypoplasia of the maxilla, Abnormality of the vertebral column, Telecanthus, Malar fla... OMIM:109120
Acrofacial Dysostosis, Catania Type
Tessier cleft, Small hand, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone, Fi... ORPHA:1786
Chromosome 5Q12 Deletion Syndrome
Flat face, Hypotension, Micrognathia, Epicanthus, Short neck, Long toe, Coarse facial features, L... OMIM:615668
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Spinal rigidity, Skeletal muscle... OMIM:300696
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Narrow face, Cardiomyopathy, Gen... ORPHA:171439
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Flat face, Short palpebral fissure, Clinodactyly, Downslanted palpebral fissures, Intrauterine gr... OMIM:613604
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the musculature, Hypoplasia of the maxilla, Mandibular prognathia, Ulnar deviation ... ORPHA:1101
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2671
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Kyphosis, Clinodactyly,... OMIM:181405
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Flat face, High iliac wing, Coarse metaphyseal trabecularization, Delayed ... ORPHA:2780
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Achondrogenesis, Type Ib
Hypoplastic ilia, Flat face, Micromelia, Umbilical hernia, Absent or minimally ossified vertebral... OMIM:600972
Intellectual Developmental Disorder, Autosomal Recessive 45
Flat face, Highly arched eyebrow, Retrognathia, Downslanted palpebral fissures, Thick eyebrow, Up... OMIM:615979
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... OMIM:608099
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Flat face, Unilateral cleft lip, Flared metaphysis, Hypertrophic cardiomyopathy, D... OMIM:616897
Multiple Pterygium Syndrome, X-Linked
Short finger, Amyoplasia, Intrauterine growth retardation, Micrognathia, Multiple pterygia, Epica... OMIM:312150
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Flat face, Occipital encephalocele, Micromelia, Pterygium, Micrognathia, Malar fla... OMIM:224410
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:619566
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Hypoplasia of the maxilla, Hypoplasia of the frontal bon... ORPHA:306542
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Flat face, Abnormal epiphysis... ORPHA:1458
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Flat face, Micromelia, Femoral bowing, Bowing of the long bones,... ORPHA:1860
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Lu... OMIM:619042
X-Linked Intellectual Disability, Seemanova Type
Epicanthus, Hypoplasia of the musculature, Skeletal muscle atrophy, Retrognathia ORPHA:85323
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Supernumerary Nostril
Tessier cleft ORPHA:141096
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Rhizomelic Chondrodysplasia Punctata
Flat face, Rhizomelia, Abnormal epiphysis morphology, Epiphyseal stippling, Abnormal metaphysis m... ORPHA:177
Pfeiffer Syndrome
Flat face, Broad thumb, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Finger synd... ORPHA:710
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Flat face, Flared metaphysis, Broad long bones, Mesomelic/rhizom... ORPHA:2347
Vulto-Van Silfhout-De Vries Syndrome
2-3 toe cutaneous syndactyly, Flat face, Horizontal eyebrow, Prominent fingertip pads, Upslanted ... OMIM:615828
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Flat face, Highly arched eyebrow, Bilateral ptosis, Thick eyebrow, Upslanted palpebral fissure, E... OMIM:614701
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Cervical myelopathy, Hip dislocation, Hypoplasia of the odontoid process, Atlantoa... OMIM:183900
Multiple Pterygium Syndrome, Lethal Type
Short finger, Amyoplasia, Intrauterine growth retardation, Micrognathia, Multiple pterygia, Epica... OMIM:253290
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb... OMIM:114290
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Hypoplasia of the musculature, Congenital hip dislocation, Shoulder gi... ORPHA:2020
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Micrognathia, Agenesis of corpus callosum,... ORPHA:2461
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Flat face, Downslanted palpebral fissures, Intrauterine growth retardation, Cervical C2/C3 verteb... OMIM:617333
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Stickler Syndrome, Type Iv
Platyspondyly, Epiphyseal dysplasia, Flat face, Short femoral neck, Hypoplastic iliac wing, Irreg... OMIM:614134
Thanatophoric Dysplasia
Platyspondyly, Abnormal ilium morphology, Flat face, Micromelia, Downslanted palpebral fissures, ... ORPHA:2655
Wrinkly Skin Syndrome
Congenital hip dislocation, Hypoplasia of the musculature, Carious teeth, Microretrognathia, Dela... OMIM:278250
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Micrognathia, Genu valgum, Limited elbow movement, Short neck, Fla... ORPHA:94068
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Short neck, Tarsal synostosis, Mes... ORPHA:2756
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoi... OMIM:151210
Alg9-Cdg
Hypoplasia of the musculature, Microretrognathia, Rhizomelia, Flared metaphysis, Tricuspid regurg... ORPHA:79328
Schwartz-Jampel Syndrome
Elbow dislocation, Micrognathia, Genu valgum, Hip contracture, Myopathy, Bowing of the long bones... ORPHA:800
Thoracomelic Dysplasia
Flat face, Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short neck, Li... ORPHA:1803
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal lower lim... ORPHA:90103
Bcard Syndrome
Platyspondyly, Flat face, Contracture of the proximal interphalangeal joint of the 2nd finger, El... OMIM:612394
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Epicanthus, Short neck, Round face, Advanced ossification of c... OMIM:615777
Proximal 16P11.2 Microduplication Syndrome
Flat face, Sparse eyebrow, Congenital diaphragmatic hernia, Sparse eyelashes, Arachnodactyly, Hem... ORPHA:370079
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Mosaic Trisomy 9
Tessier cleft, Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Micromelia, Intra... ORPHA:99776
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Micrognathia, Genu valgum, Congenital diaphragmatic hernia, Talipes equinova... OMIM:245600
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Hip dislocation, Myopathy, Scapular winging, Flex... OMIM:616471
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Flat face, Small hand, Cervical kyphosis, Dilated cardiomyopathy, Highly ar... ORPHA:401923
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Flat face, Micromelia, Metaphyseal spurs, Irregular epiphyses, Lumbar hyperlordosi... OMIM:608728
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Flat face, Carious teeth, Downslanted palpebral fissures, Intrauterin... OMIM:219200
Alagille Syndrome
Short distal phalanx of finger, Flat face, Abnormal form of the vertebral bodies, Downslanted pal... ORPHA:52
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Hand clenching, Limb muscle weakness, Muscle fibe... OMIM:256030
Dysostosis, Stanescu Type
Flat face, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Hypoplasia of... ORPHA:1798
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Clinodactyly, Epicanthus, Round face, Narrow palpebral fissure, Long face, Flat face, Symphalangi... OMIM:620494
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Epicanthus, Sho... OMIM:180700
Abruzzo-Erickson Syndrome
Flat face, Ulnar deviation of finger, Toe syndactyly, Short toe, Malar flattening, Radioulnar syn... ORPHA:921
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Ethmoidal encephalocele, Cleft palate OMIM:607597
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Genu valgum, Abnormal metatarsal morpholog... ORPHA:93360
Arthrogryposis, Distal, Type 2B3
Downslanted palpebral fissures, Overlapping fingers, Talipes equinovarus, Hallux valgus, Ptosis, ... OMIM:618436
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Achondrogenesis Type 1B
Flat face, Micromelia, Umbilical hernia, Micrognathia, Talipes equinovarus, Short neck, Short foot ORPHA:93298
Mycophenolate Mofetil Embryopathy
Tessier cleft, Bifid thoracic vertebrae, Micrognathia, Congenital diaphragmatic hernia, Eyelid co... ORPHA:268249
Achondrogenesis Type 1A
Flat face, Micromelia, Umbilical hernia, Micrognathia, Short neck, Short foot, Short palm ORPHA:93299
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Flat face, Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, Bowing of the legs ORPHA:156728
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Thanatophoric Dysplasia Type 2
Platyspondyly, Flat face, Micromelia, Encephalocele, Hydrocephalus, Brachydactyly, Holoprosenceph... ORPHA:93274
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Apert Syndrome
Flat face, Hypoplasia of the maxilla, Mandibular prognathia, Toe syndactyly, Delayed eruption of ... ORPHA:87
Peroxisome Biogenesis Disorder 7A (Zellweger)
Flat face, Epiphyseal stippling, Death in infancy, Talipes equinovarus, Wide anterior fontanel OMIM:614872
Congenital Myopathy 22A, Classic
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Microgna... OMIM:620351
Emery-Nelson Syndrome
Flat face, Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morph... ORPHA:1927
Camptodactyly Syndrome, Guadalajara Type 3
Symblepharon, Sternocleidomastoid amyotrophy, Small hand, Flat face, Broad femoral neck, Retrogna... ORPHA:488434
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Flat face, Short neck, Bilateral cleft lip, Thoracic scoliosis OMIM:616994
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal vertebral morphology, Subluxation of the small joints of the hand... ORPHA:536471
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Achondrogenesis
Flat face, Micromelia, Umbilical hernia, Micrognathia, Short neck ORPHA:932
Camptodactyly Syndrome, Guadalajara, Type Iii
Symblepharon, Flat face, Joint contracture of the hand, Small hypothenar eminence, Retrognathia, ... OMIM:611929
Developmental And Epileptic Encephalopathy 89
Flat face, Sparse eyebrow, Microretrognathia, Highly arched eyebrow, Downslanted palpebral fissur... OMIM:619124
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Oculocerebrocutaneous Syndrome
Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Con... ORPHA:1647
Jawad Syndrome
Retrognathia, Thoracic scoliosis, Postaxial polydactyly, 4-5 toe syndactyly, Hallux valgus, Absen... OMIM:251255
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Absent eyelashes, Talipes equinovarus... OMIM:263650
Blepharocheilodontic Syndrome 1
Flat face, Clinodactyly, Lagophthalmos, Euryblepharon, Distichiasis, Cutaneous syndactyly, Ectrop... OMIM:119580
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Flat face, Retrognathia, Patellar hypoplasia, Short neck, Abnormal facial shape, Brachydactyly, S... ORPHA:464288
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... ORPHA:536516
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Dilated cardiomyopathy, Hyperplasia of the maxilla, Malar prominen... ORPHA:231226
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Flat face, Palmoplantar keratoderma, Absent frontal sinuses, Epicanthus, Round face ORPHA:2536
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Spinal rigidity, Dental malocclusion... OMIM:617258
16P11.2P12.2 Microdeletion Syndrome
Flat face, Microretrognathia, Toe syndactyly, Camptodactyly of finger, Tricuspid regurgitation, D... ORPHA:261211
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Lumbar hyperlordosis, Over... OMIM:618167
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Narrow f... ORPHA:171442
Peroxisome Biogenesis Disorder 3A (Zellweger)
Flat face, Epiphyseal stippling, Wide anterior fontanel OMIM:614859
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, Retrognathia, Downslanted palpebral fissures, Micrognathia, Spondy... OMIM:609192
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... OMIM:500002
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Intrauterine growth retardation, Trident pelvis, Kyphoscol... OMIM:614815
Flat Face-Microstomia-Ear Anomaly Syndrome
Flat face, Sparse eyebrow, Highly arched eyebrow, Hypoplasia of the zygomatic bone, Camptodactyly... ORPHA:1968
Trisomy 12P
Flat face, Micrognathia, Thick eyebrow, Malar flattening, Epicanthus, Short neck, Large hands, Cl... ORPHA:1699
Frontofacionasal Dysplasia
Tessier cleft, Telecanthus, Absent inner eyelashes, Encephalocele, Upper eyelid coloboma, Ptosis,... ORPHA:1791
Anencephaly 2
Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate OMIM:619452
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate OMIM:613456
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... OMIM:608340
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Mitral regurgi... OMIM:271640
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly of f... OMIM:601680
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Spondylolisthesis, Ragged-red muscle fibers, Myopathy, Ptosis, Abnormal muscle f... ORPHA:270
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Talipes equinovarus, Mus... OMIM:614399
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Micrognathia, Genu valgum, Myopathy, Short neck, ... ORPHA:171436
Chondrodysplasia Punctata 2, X-Linked Dominant
Flat face, Abnormal pelvic girdle bone morphology, Rhizomelia, Sparse eyebrow, Downslanted palpeb... OMIM:302960
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Abnormal pelvic girdle bone morphology, Pelvic g... OMIM:167320
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Congenital hip dislocation, Narrow face, Dilated card... OMIM:255310
Congenital Myopathy 19
Congenital contracture, Skeletal muscle atrophy, Micrognathia, Ptosis, Facial hypotonia, Triangul... OMIM:618578
Three M Syndrome 1
Short 5th finger, Slender long bone, Intrauterine growth retardation, Increased vertebral height,... OMIM:273750
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Progressive Non-Infectious Anterior Vertebral Fusion
Flat face, Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Downslanted palp... ORPHA:2062
Oculopharyngeal Muscular Dystrophy 1
Progressive ptosis, Limb muscle weakness, Ragged-red muscle fibers, Ptosis, Facial palsy OMIM:164300
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Small hand, Toe syndactyly, Micrognathia, Limited elbow movement, Short neck, Short foot, Short 5... OMIM:610759
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Decreased movem... OMIM:609115
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Broad thumb, Camptodactyly of finger, Telecanthus, Bilateral single transverse pal... ORPHA:1236
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... OMIM:617030
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Downslanted palpebral fissures, Prea... OMIM:603671
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Flat face, Joint contracture of the hand, Small hand, Delayed eruption of teeth, Retrognathia, Um... OMIM:235510
Apert Syndrome
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta... OMIM:101200
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi... OMIM:150250
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Peroxisome Biogenesis Disorder 5A (Zellweger)
Micrognathia, Mitral regurgitation, Agenesis of corpus callosum, Talipes equinovarus, Epicanthus,... OMIM:614866
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Flat face, Large face, ... ORPHA:2097
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Beta-Thalassemia Major
Hypoplasia of the musculature, Dilated cardiomyopathy, Hyperplasia of the maxilla, Malar prominen... ORPHA:231214
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Congenital muscular torticolli... ORPHA:2345
20Q11.2 Microduplication Syndrome
Flat face, Retrognathia, Downslanted palpebral fissures, Palpebral edema, Limited elbow extension... ORPHA:363659
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Bone Dysplasia, Lethal Holmgren Type
Flat face, Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, ... ORPHA:1842
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, Blepharophimosis, Sho... OMIM:170390
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s... OMIM:175700
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Narrow face, Skeletal muscle atrophy, Subdural he... OMIM:620278
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Micrognathia, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Small hand, Overlapping fingers, Advanced eruption of teeth, Postaxial hand polyda... ORPHA:952
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers OMIM:616209
3Mc Syndrome 3
Tessier cleft, Highly arched eyebrow, Clinodactyly, Preaxial polydactyly, Diastasis recti, Radiou... OMIM:248340
Peroxisome Biogenesis Disorder 1A (Zellweger)
Flat face, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Epiphyseal stippl... OMIM:214100
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Narrow face, Skeletal muscle atrophy, Limb muscle... OMIM:616313
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Epiphyseal dysplasia, Hypoplastic ilia, Flat face, Flared metaphysis, Carpal synos... OMIM:615349
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Kyphosis, Intrauterine growth retardation, Talipes eq... OMIM:255200
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Neonatal death, Epicanthus, Short neck, Short foot, Holoprosen... OMIM:269860
Classic Multiminicore Myopathy
Spinal rigidity, Muscular dystrophy, Microretrognathia, Right ventricular failure, Mandibular pro... ORPHA:324604
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat face, Broad thumb, Micrognathia, Upslanted palpebral fissure, Bilateral cleft palate, Short ... ORPHA:2001
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Flat face, Intrauterine growth retardation, Polydactyly, Epicanthus, Hypoplastic ischia OMIM:616910
Fountain Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ... ORPHA:3219
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Flat face, Genu valgum, Round face, Brachydactyly, Short phalanx of finger,... OMIM:132450
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Foot dorsiflexo... ORPHA:603
Arthrogryposis, Distal, Type 5
Firm muscles, Clinodactyly, Decreased muscle mass, Arachnodactyly, Limited wrist extension, Dista... OMIM:108145
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Downslanted palpebral fissures, Micrognathia, Upslant... OMIM:615761
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Orofaciodigital Syndrome Xv
Flat face, Broad hallux, Agenesis of corpus callosum, Duplication of phalanx of hallux, Postaxial... OMIM:617127
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Micrognathia, Limb muscle weakness, Weakness of facial musculature, Ptosis, Type 2 mus... OMIM:608930
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Dilated cardiomyopathy, Scoliosis, Retrognathia, Type 1 muscle fiber predominanc... OMIM:161800
Blepharocheilodontic Syndrome 2
Flat face, Euryblepharon, Facial asymmetry, Distichiasis, Cutaneous syndactyly, Ectropion of lowe... OMIM:617681
Poliomyelitis
Hypovolemic shock, Hypotension, Hypoplasia of the musculature, Skeletal muscle atrophy, Upper lim... ORPHA:2912
Parkinson Disease 17
Akinesia, Resting tremor, Tremor, Bradykinesia OMIM:614203
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Micrognathia, Split foot... ORPHA:2437
Cebalid Syndrome
Flat face, Highly arched eyebrow, Downslanted palpebral fissures, Thick eyebrow, Congenital diaph... OMIM:618774
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Flat face, Epicanthus, Abnormal facial shape, Blepharophimosis, Camptodactyly, Syndactyly OMIM:616006
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Mulchandani-Bhoj-Conlin Syndrome
Clinodactyly, Retrognathia, Intrauterine growth retardation, 2-3 toe syndactyly, Epicanthus, Hype... OMIM:617352
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... OMIM:609285
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Flat face, Downslanted palpebral fissures, Micrognathia, Thick eyebrow, Long palpebral fissure, R... OMIM:602562
Kleefstra Syndrome 1
Flat face, Natal tooth, Persistence of primary teeth, Malar flattening, Single transverse palmar ... OMIM:610253
Distal Deletion 12Q
Flat face, Congenital hypertrophy of left ventricle, Broad hallux, Downslanted palpebral fissures... ORPHA:96149
Cerebrooculonasal Syndrome
Tessier cleft, Sparse eyebrow, Large face, Upslanted palpebral fissure, Sparse eyelashes, Epicant... ORPHA:66625
Treacher-Collins Syndrome
Tessier cleft, Short face, Hypoplasia of the maxilla, Blepharospasm, Branchial fistula, Abnormali... ORPHA:861
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Diprosopus
Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Beaking of vertebral bodies, Epic... OMIM:213980
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Zellweger Syndrome
Flat face, Epiphyseal stippling, Micrognathia, Upslanted palpebral fissure, Death in infancy, Epi... ORPHA:912
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Single transverse palmar... ORPHA:178148
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida, Cleft palate, Non-midline cleft of the upper lip ORPHA:2476
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Contractural Arachnodactyly, Congenital
Micrognathia, Mitral regurgitation, Hip contracture, Arachnodactyly, Talipes equinovarus, Short n... OMIM:121050
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Slender long bone, Micrognathia, Protrusio acetabuli, Biconcave verteb... OMIM:259420
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:899
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Bilateral el... OMIM:166300
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Flat face, Finger clinodactyly, Downslanted palpebral fissures, Long eyelashes, Malar flattening,... OMIM:601353
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Campomelic Dysplasia
Small abnormally formed scapulae, Flat face, Hip dislocation, Micrognathia, Femoral bowing, Tibia... ORPHA:140
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Intellectual Developmental Disorder, X-Linked 30
Flat face, Upslanted palpebral fissure, Hydrocephalus, Prominent fingertip pads OMIM:300558
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Flat face, Unilateral cleft lip, Sparse lateral eyebrow, Downslanted palpebral fissures, Submucou... OMIM:619103
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Broad thumb, Skeletal muscle atrophy, Broad hallux, Downslanted palpebral ... ORPHA:435638
Arthrogryposis, Distal, Type 2B2
Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Overlapping fingers, Talipes ... OMIM:618435
Joubert Syndrome 15
Exencephaly OMIM:614464
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Intrauterine growth retardation, Micrognathia, Joint contracture, Triang... OMIM:615419
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Platyspondyly, Facial shape deformation, Flat face, Highly arched eyebrow, ... ORPHA:309282
Kyphomelic Dysplasia
Platyspondyly, Flat face, Radial bowing, Micromelia, Flared metaphysis, Pterygium, Dumbbell-shape... OMIM:211350
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Retrognathia, Facial diplegia, Type 1 muscle fiber pr... ORPHA:169186
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Skin Creases, Congenital Symmetric Circumferential, 1
Flat face, Short palpebral fissure, Micrognathia, Upslanted palpebral fissure, Epicanthus, Short ... OMIM:156610
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Clubbing of toes, Broad distal phalanx of finger, Abnormal epiphysis morph... ORPHA:3051
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Hemihyperplasia, Isolated
Myelomeningocele, Skeletal muscle hypertrophy OMIM:235000
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o... ORPHA:2839
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Mucopolysaccharidosis Type 7
Flat face, Anterior beaking of lower thoracic vertebrae, Umbilical hernia, Abnormal hip bone morp... ORPHA:584
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Dentinogenesis imperfecta, Skeletal muscle atrophy, Umbilical hernia, Wide distal ... OMIM:614856
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Flat face, Flared metaphysis, Dislocated radial head, Micrognathia, Single transverse palmar crea... OMIM:130070
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
3M Syndrome
Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, Triangular ... ORPHA:2616
Aymé-Gripp Syndrome
Flat face, Reduced arm span, Downslanted palpebral fissures, Bilateral ptosis, Long eyelashes, Co... ORPHA:1272
Ullrich Congenital Muscular Dystrophy 1A
Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Hip dislocat... OMIM:254090
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Lumbar hyperlordosis, Type 1 muscle fiber predominance, Rag... ORPHA:353327
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Retrognathia, Long eyelashes, Short neck, Flexion... OMIM:619026
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Skeletal muscle atrophy, Downslanted palpebral fissures, Abnormal hip ... ORPHA:3068
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Icf Syndrome
Flat face, Umbilical hernia, Micrognathia, Epicanthus, Macroglossia, Communicating hydrocephalus ORPHA:2268
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... OMIM:619477
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Mesomelia-Synostoses Syndrome
Synostosis of carpal bones, Abnormal tibia morphology, Micrognathia, Genu valgum, Abnormal metaca... ORPHA:2496
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif... ORPHA:64754
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98855
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Downslanted palpebral fissures, Bi... OMIM:619542
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Chromosome 17P13.1 Deletion Syndrome
Long hallux, Arachnodactyly, Epicanthus, Short neck, Narrow palpebral fissure, Short foot, Long f... OMIM:613776
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Ptosis, ... OMIM:603034
Branchioskeletogenital Syndrome
Flat face, Hypoplasia of the maxilla, Carious teeth, Highly arched eyebrow, Abnormality of the ve... ORPHA:1299
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness ORPHA:309169
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Ptosi... ORPHA:424107
Osteogenesis Imperfecta, Type V
Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Vertebral wedgi... OMIM:610967
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Flat face, Micrognathia, Malar flattening, Epicanthus, Sinusitis, Macroglossia OMIM:242860
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Ring Chromosome 7 Syndrome
Small hand, Genu valgum, Epicanthus, Lumbar kyphoscoliosis, Holoprosencephaly, Short 5th finger, ... ORPHA:1449
Robinow-Sorauf Syndrome
Flat face, Broad thumb, Broad hallux, Downslanted palpebral fissures, Bilateral ptosis, Malar fla... OMIM:180750
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Horizontal eyebrow, Clinodactyly, Umbilical hernia, Upslanted p... ORPHA:369891
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Skeletal muscle atrophy, Dental malocclusion, Decreased muscle mass, Ptosi... OMIM:608931
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Mitral regurgitation, Hip contracture, Talipes equino... ORPHA:576
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Small hand, Downslanted palpebral fissures, Elbow flexion contracture, Intrauterine growth retard... ORPHA:371364
Cap Myopathy
Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Lu... ORPHA:171881
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Menke-Hennekam Syndrome 1
Square face, Overlapping toe, Micrognathia, Epicanthus, Blepharophimosis, Flat face, Short palpeb... OMIM:618332
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Flat face, Sparse eyebrow, Highly arched eyebrow, Hypoplasia of the ... OMIM:618419
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Lethal Congenital Contracture Syndrome 9
Increased variability in muscle fiber diameter, Joint contracture of the hand, Muscle fiber atrop... OMIM:616503
Monosomy 22
Flat face, Finger syndactyly, Contractures of the large joints, Retrognathia, Single transverse p... ORPHA:96123
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Broad thumb, Skeletal muscle atrophy, Broad hallux, Downslanted palpeb... ORPHA:481152
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Epicanthus, Cleft pal... OMIM:614175
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Downslanted palpebral fissures, Kyphoscoliosis, Postaxial pol... OMIM:612913
Chromosome 3Pter-P25 Deletion Syndrome
Highly arched eyebrow, Retrognathia, Overlapping toe, Micrognathia, Intrauterine growth retardati... OMIM:613792
Kbg Syndrome
Finger clinodactyly, Telecanthus, Thick eyebrow, Single transverse palmar crease, Long palpebral ... ORPHA:2332
Constricting Bands, Congenital
Tessier cleft, Encephalocele, Cleft palate OMIM:217100
Distal Duplication 18Q
Progressive intervertebral space narrowing, Carious teeth, Deviation of finger, Camptodactyly of ... ORPHA:1716
20P13 Microdeletion Syndrome
Highly arched eyebrow, Clinodactyly, Finger syndactyly, Downslanted palpebral fissures, Telecanth... ORPHA:313781
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Ptosis, Scapul... OMIM:617069
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Epicanthus, Short distal... OMIM:620662
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Tricuspid regurgitation, ... ORPHA:1120
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Dilated cardiomyopathy, Neuropathic spinal arthropathy, Ragged-red muscle fibers... OMIM:615084
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Duane-Radial Ray Syndrome
Epicanthus, Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Syndactyly, Fused ... OMIM:607323
Central Core Disease
Nemaline bodies, Congenital hip dislocation, Type 1 muscle fiber predominance, Multiple joint con... ORPHA:597
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Cutis Laxa, Autosomal Recessive, Type Ib
Flat face, Retrognathia, Downslanted palpebral fissures, Tricuspid regurgitation, Micrognathia, C... OMIM:614437
Legius Syndrome
Downslanted palpebral fissures, Micrognathia, Epicanthus, Short neck, Ptosis, Supravalvar pulmona... OMIM:611431
Alazami Syndrome
Short palpebral fissure, Malar flattening, Narrow palpebral fissure, Triangular face, Scoliosis OMIM:615071
Skin Creases, Congenital Symmetric Circumferential, 2
Flat face, Short palpebral fissure, Carious teeth, Downslanted palpebral fissures, Micrognathia, ... OMIM:616734
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Distal Deletion 10Q
Clinodactyly, Lateral ventricle dilatation, Micrognathia, Epicanthus, Hip dislocation, Prominent ... ORPHA:96148
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Sparse eyebrow, Prominent fingertip pads, Retrognathia, Downslanted palpebral fissures, Thick eye... OMIM:620098
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Flat face, Hypoplastic sacrum, Abnormal femora... OMIM:200600
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Flat face, Hypoplastic vertebral bodies, Coarse facial fea... OMIM:230600
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617072
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Houge-Janssens Syndrome 2
Broad hallux, Downslanted palpebral fissures, Deviation of the 5th finger, Agenesis of corpus cal... OMIM:616362
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Flat face, Microretrognathia, Pterygium, Malar flattening, Multiple pterygia, Talipes equinovarus... OMIM:177980
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Trisomy 20P
Finger syndactyly, Micrognathia, Epicanthus, Short neck, Round face, Blepharophimosis, Preaxial h... ORPHA:261318
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger, Umbilical hern... ORPHA:2311
17P11.2 Microduplication Syndrome
Micrognathia, Scoliosis, Triangular face, Downslanted palpebral fissures ORPHA:1713
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Flat face, Neonatal death, Talipes equinovarus, Short neck, Clinodactyly of... OMIM:619859
Chromosome 15Q26-Qter Deletion Syndrome
Intrauterine growth retardation, Micrognathia, Talipes equinovarus, Brachydactyly, Blepharophimos... OMIM:612626
Trichorhinophalangeal Syndrome Type 1
Short distal phalanx of finger, Sparse eyebrow, Cone-shaped epiphysis, Camptodactyly of finger, S... ORPHA:77258
Omodysplasia 1
Axillary pterygium, Flat face, Rhizomelia, Popliteal pterygium, Short tibia, Umbilical hernia, Li... OMIM:258315
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Lateral ventricle dilatation, Downslanted palpebral fissures, Submuco... ORPHA:457279
Simosa Craniofacial Syndrome
Flat face, Sparse eyebrow, Highly arched eyebrow, Telecanthus, Malar flattening, Blepharophimosis... OMIM:182150
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Dilated cardiomyopathy, Neuropathic spinal arthropathy, Ragged-red muscle fibers... ORPHA:352447
Bethlem Muscular Dystrophy
Spinal rigidity, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscl... ORPHA:610
Wiedemann-Steiner Syndrome
Flat face, Rhizomelia, Short palpebral fissure, Clinodactyly, Long eyelashes, Telecanthus, Thick ... ORPHA:319182
15Q24 Microdeletion Syndrome
Small hand, Clinodactyly, Downslanted palpebral fissures, Myelomeningocele, Congenital diaphragma... ORPHA:94065
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Downslanted palpebral fissures, Intrauterine growth retardation, Hip contracture, Epicanthus, Sho... OMIM:616801
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy OMIM:609500
Andersen-Tawil Syndrome
Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectiona... ORPHA:37553
Native American Myopathy
Progressive congenital scoliosis, Congenital contracture, Skeletal muscle atrophy, Downslanted pa... ORPHA:168572
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Three M Syndrome 2
Short 5th finger, Dental malocclusion, Delayed eruption of teeth, Clinodactyly, Slender long bone... OMIM:612921
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Carious teeth, Motheaten musc... OMIM:226670
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ptosis, Facial palsy, Ragged-red muscle fibers OMIM:609283
Nail-Patella Syndrome
Patellar aplasia, Talipes equinovarus, Disproportionate prominence of the femoral medial condyle,... OMIM:161200
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Holoprosencephaly 7
Flat face, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Semilobar holoprosencephaly, U... OMIM:610828
Pelger-Huet Anomaly
Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Median clef... OMIM:169400
Genitourinary And/Or Brain Malformation Syndrome
Flat face, Short palpebral fissure, Epicanthus inversus, Micrognathia, Upslanted palpebral fissur... OMIM:618820
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... OMIM:620285
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Marshall Syndrome
Flat face, Hypoplasia of the maxilla, Sparse eyebrow, Hypoplasia of the zygomatic bone, Micrognat... ORPHA:560
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Flat face, Microretrognathia, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth ... OMIM:614052
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Congenital diaphragmatic hernia, Patellar aplasia, Arachnoda... OMIM:265000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Bilatera... OMIM:258450
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:399086
Distal Duplication 5Q
Flat face, Carious teeth, Absent thumb, Downslanted palpebral fissures, Micrognathia, Epicanthus,... ORPHA:96097
Muscular Dystrophy, Congenital, Lmna-Related
Spinal rigidity, Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal at... OMIM:613205
Multiple Sulfatase Deficiency
Flat face, Broad thumb, Broad hallux, Hypoplastic vertebral bodies, Coarse facial features, Hydro... OMIM:272200
Menke-Hennekam Syndrome 2
Flat face, Short palpebral fissure, Cutaneous syndactyly of toes, Square face, Sandal gap, Overla... OMIM:618333
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Cutis Laxa, Autosomal Recessive, Type Iib
Congenital hip dislocation, Decreased muscle mass, Downslanted palpebral fissures, Intrauterine g... OMIM:612940
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ptosis, Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Malar flattening, Polydactyly, Agenesis of corpu... OMIM:607131
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Carpenter Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Third degree atrioventricula... ORPHA:480
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Spinal dysraphism, Finger syndactyly, Micromelia, Intrauterine growth reta... ORPHA:1908
Al Kaissi Syndrome
Small hand, Clinodactyly, Downslanted palpebral fissures, Telecanthus, Intrauterine growth retard... OMIM:617694
Basal Cell Nevus Syndrome 1
Palmar pits, Mandibular prognathia, Short distal phalanx of the thumb, Vertebral wedging, Orbital... OMIM:109400
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Kyphoscoliosis, Flexion contracture OMIM:607855
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Thoracic scoliosis, Post... OMIM:603387
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Abnormality of the vertebral col... ORPHA:52430
Chromosome 10Q26 Deletion Syndrome
2-3 toe cutaneous syndactyly, Congenital hip dislocation, Toe syndactyly, Prominent fingertip pad... OMIM:609625
Al-Raqad Syndrome
Sandal gap, Brachydactyly, Flat face OMIM:616459
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Lateral Meningocele Syndrome
Decreased muscle mass, Umbilical hernia, Downslanted palpebral fissures, Telecanthus, Micrognathi... OMIM:130720
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... OMIM:608807
Down Syndrome
Atlantoaxial dislocation, Flat face, Sandal gap, Umbilical hernia, Clinodactyly of the 5th finger... ORPHA:870
Congenital Disorder Of Glycosylation, Type Ii
Flat face, Upslanted palpebral fissure, Epicanthus OMIM:607906
Orofaciodigital Syndrome Xvii
Retrognathia, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of thumb ... OMIM:617926
Waardenburg Syndrome Type 1
Telecanthus, Thick eyebrow, Ptosis, White eyebrow, Spina bifida, White eyelashes, Meningocele, Sc... ORPHA:894
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Myelomeningocele, Punctate vertebral calcifications, Epiphyseal s... ORPHA:1914
Fraser Syndrome 1
Tessier cleft, Dental malocclusion, Lacrimal duct aplasia, Myelomeningocele, Cryptophthalmos, Cut... OMIM:219000
Wildervanck Syndrome
Short neck, Facial asymmetry, Meningocele, Facial palsy, Fused cervical vertebrae ORPHA:3456
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt... ORPHA:2876
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Clinodactyly, Elbow flexion contracture, Micrognathia, Single transverse... OMIM:616200
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Broad distal phalanx of finger, Postaxial foot polydactyly, Downslanted pa... ORPHA:404440
Myasthenic Syndrome, Congenital, 12
Ptosis, Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Talipes equinovarus, Mac... OMIM:151800
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Micromelia, Micrognathia, ... OMIM:617866
Bardet-Biedl Syndrome 7
Clinodactyly, Malar flattening, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, C... OMIM:248800
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Enamel hypoplasia, Retrognathia OMIM:617915
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Highly arched eyebrow, Retrognathia, Preaxial polydactyly, Overlapping toe, Micrognathia, Overlap... OMIM:618142
Triploidy
Finger syndactyly, Intrauterine growth retardation, Micrognathia, Short neck, Hydrocephalus, Macr... ORPHA:3376
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Diastasis recti, Polydactyly, Clinodactyly of the 5th finger, Triangular face, Upper limb asymmetry ORPHA:231140
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Small thenar emine... OMIM:211960
17Q24.2 Microdeletion Syndrome
Otosclerosis, Broad thumb, Upper limb undergrowth, Downslanted palpebral fissures, Abnormality of... ORPHA:529962
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Split hand... OMIM:610099
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Retrognathia, Micrognathia, M... OMIM:615959
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Narrow face, Abnormal form of the vertebral bodies, Umbilical hernia, ... ORPHA:2789
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Intrauterine growth retardation, Micrognathia, Thick eyebrow, Clinodacty... ORPHA:94063
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Carey-Fineman-Ziter Syndrome
Hypertensive crisis, Ulnar deviation of finger, Skeletal muscle atrophy, Downslanted palpebral fi... ORPHA:1358
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Thoracic hemivertebrae, Genu valgum, Arachnodactyly, Posta... OMIM:619721
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Pterygium, Bowing of the long bones, Talipes e... ORPHA:2771
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Downslanted palpebral fissures, Overlapping finge... OMIM:617022
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Lateral ventricle dilatation, Long face, Myopathy OMIM:616816
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flat face, Telecanthus, Clinodactyly of the 5th finger, Death in infancy, Agenesis of corpus call... ORPHA:847
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... OMIM:600334
Down Syndrome
Flat face, Atlantoaxial instability, Shallow acetabular fossae, Clinodactyly, Sandal gap, Hypopla... OMIM:190685
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy, Myopathy, Hyperlordosis ORPHA:369840
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Potocki-Lupski Syndrome
Dental malocclusion, Downslanted palpebral fissures, Micrognathia, Triangular face, Scoliosis, Ma... OMIM:610883
Ayme-Gripp Syndrome
Craniofacial asymmetry, Flat face, Downslanted palpebral fissures, Malar flattening, Upslanted pa... OMIM:601088
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Agenesis of corpus callosum, ... ORPHA:508498
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Flat face, Broad distal phalanx of finger, Delayed eruption of teeth, Downslanted palpebral fissu... OMIM:300990
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Short neck, Spi... OMIM:616038
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Scoliosis, Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature OMIM:618416
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Umbilical hernia, Long eyelashes, Micrognathia, Intrauterine growth ... OMIM:618651
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Long toe, Long fingers, Tr... OMIM:619489
Frontonasal Dysplasia 2
Short palpebral fissure, Sparse eyebrow, Tessier number 13 facial cleft, Telecanthus, Intrauterin... OMIM:613451
Marfanoid-Progeroid-Lipodystrophy Syndrome
Retrognathia, Downslanted palpebral fissures, Intrauterine growth retardation, Arachnodactyly, Ke... OMIM:616914
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Square face, Sandal gap, Preaxial polydactyly, Genu valgum, Upsla... OMIM:617927
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Prominent eyelashes, Downslanted palpebral fissures, Malar flattening, U... OMIM:616420
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Polydactyly, Talipes equinovarus, Short neck, Cleft palate OMIM:613885
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Scoliosis, Lowe... ORPHA:99013
Noonan Syndrome 14
Aortic regurgitation, Sparse eyebrow, Clinodactyly, Lateral ventricle dilatation, Downslanted pal... OMIM:619745
Peroxisome Biogenesis Disorder 3B
Flat face, Abnormal facial shape, Malar flattening, Single transverse palmar crease OMIM:266510
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... ORPHA:596
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Micrognathia, Ragged-red muscle fibers, Distichiasis, Hyperlordo... OMIM:600462
Joubert Syndrome 7
Genu valgum, Encephalocele, Postaxial polydactyly, Ptosis, Postaxial hand polydactyly, Scoliosis OMIM:611560
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Downslanted palpebral fissures, Enceph... ORPHA:2211
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital c... OMIM:613150
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Intrauterine growth retardation, Micrognathia, Po... ORPHA:397590
Au-Kline Syndrome
Overlapping toe, Thoracolumbar scoliosis, Lipomyelomeningocele, Long face, Downslanted palpebral ... OMIM:616580
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Facial palsy, Flexion contr... OMIM:603511
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Congenital diaphragmatic hernia, Round face, Short foot, Downslanted pa... OMIM:301044
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Retrognathia, Micrognathia, Ptosis, Facial palsy,... OMIM:616720
Alazami Syndrome
Short palpebral fissure, Sparse eyebrow, Slender long bone, Malar flattening, Narrow palpebral fi... ORPHA:319671
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Micrognathia, Agenesis of corpus callosum, Talipes equinovar... OMIM:180849
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Flexion contr... OMIM:616470
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Hypoplasia ... OMIM:101400
Iniencephaly
Rhizomelia, Absent vertebra, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Encephaloce... ORPHA:63259
Congenital Myasthenic Syndrome
Congenital hip dislocation, Distal amyotrophy, Arthrogryposis multiplex congenita, Microretrognat... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Distal amyotrophy, Arthrogryposis multiplex congenita, Microretrognat... ORPHA:98914
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Abnormal femoral epiphysis morphology, Abnormal form of the vertebral bodies, Umbilical hernia, S... ORPHA:3218
Intellectual Developmental Disorder, Autosomal Dominant 72
Epicanthus, Short neck, Spina bifida, Facial hypotonia, Broad palm OMIM:620439
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormal epiphysis morphology, Carpal osteolysis, Wrist swelling, Camptodactyly of finger, Metaca... ORPHA:2774
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Encephalocele, Neonatal death, T... OMIM:108720
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Palpebral thickening, Microretrognathia, Clinodactyly, Downslanted palpebr... OMIM:618950
Silver-Russell Syndrome Due To 11P15 Microduplication
Umbilical hernia, Intrauterine growth retardation, Facial asymmetry, Severe intrauterine growth r... ORPHA:231144
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Congenital Myopathy 17
Hand clenching, Dental malocclusion, Clinodactyly, Downslanted palpebral fissures, Overlapping to... OMIM:618975
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Skeletal muscle atrophy, Hand muscle weakness, Bilateral ptosis, Type 1 mu... ORPHA:98915
Cole-Carpenter Syndrome 2
Platyspondyly, Dentinogenesis imperfecta, Microretrognathia, Downslanted palpebral fissures, Hydr... OMIM:616294
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Cone-shaped epip... OMIM:617102
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Deviation of finger, Arachnodactyly, Ptosis, Congenital finger flexion contractures, Bilateral ta... ORPHA:1154
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Death in childhood, EMG: myopath... OMIM:609560
Craniofacial-Deafness-Hand Syndrome
Flat face, Hypoplasia of the maxilla, Downslanted palpebral fissures, Telecanthus, Malar flatteni... OMIM:122880
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Back pain, Int... ORPHA:329478
Autosomal Recessive Progressive External Ophthalmoplegia
Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, P... ORPHA:254886
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Short neck, Narrow pelvis bone, ... ORPHA:66637
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Downslanted palpebral fissures, Micrognathia, Cleft soft palate, Brachydactyly, Faci... OMIM:614526
Pseudoaminopterin Syndrome
Synostosis of carpal bones, Overlapping toe, Micrognathia, Limited elbow movement, Epicanthus, Bl... ORPHA:221120
Osteogenesis Imperfecta, Type X
Platyspondyly, Dentinogenesis imperfecta, Rhizomelia, Micromelia, Micrognathia, Genu valgum, Mala... OMIM:613848
Garg-Mishra Progeroid Syndrome
Platyspondyly, Slender long bone, Slender metacarpals, Micrognathia, Coxa valga, Triangular face,... OMIM:620601
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred... OMIM:620161
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird... ORPHA:263494
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Upslanted palpebral fissure, Talipes equinovarus, Short neck, Round face, Macroglos... OMIM:616789
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ptosis, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... OMIM:619334
Silver-Russell Syndrome
Abnormality of the calcaneus, Decreased muscle mass, Sandal gap, Intrauterine growth retardation,... ORPHA:813
Trisomy 18
Narrow face, Microretrognathia, Deviation of finger, Non-midline cleft of the upper lip, Camptoda... ORPHA:3380
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Abnormal facial shape, Cardiomyopathy OMIM:613752
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Kyphoscoliosis, Triceps we... OMIM:619574
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Highly arched eyebrow, Retrognathia, Downslanted palpebral fissures, Persistence of primary teeth... OMIM:618342
20Q13.33 Microdeletion Syndrome
Hematochezia, Highly arched eyebrow, Downslanted palpebral fissures, Upslanted palpebral fissure,... ORPHA:261311
Joubert Syndrome 14
Highly arched eyebrow, Downslanted palpebral fissures, Encephalocele, Malar flattening, Postaxial... OMIM:614424
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Lateral ventricle dilatation, Genu valgum, Mitral regurgitation, Epica... OMIM:615873
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Retrognathia, Intrauterine growth retardation, Agenesis of corpus ... OMIM:620113
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Epicanthus, Hydrocephalus, Triangular face, Wide anterior fontanel OMIM:614886
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... OMIM:252011
Distal Deletion 3P
Umbilical hernia, Telecanthus, Micrognathia, Intrauterine growth retardation, Epicanthus, Short n... ORPHA:1620
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Micrognathia, Triangular face ORPHA:939
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Retrognathia, Intrauterine growth retardation, Agenesis of corpus callosum, Epicanthus, Coarse fa... OMIM:620428
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert... OMIM:540000
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Toe syndactyly, Branchial fistula, Camptodactyly of finger, Tricuspid regu... ORPHA:261337
Partington Syndrome
Camptodactyly, Flexion contracture, Triangular face OMIM:309510
Chopra-Amiel-Gordon Syndrome
Upslanted palpebral fissure, Almond-shaped palpebral fissure, Triangular face, Scoliosis, Cleft p... OMIM:619504
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal dea... OMIM:146510
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Monosomy 9Q22.3
Palmar pits, Abnormality of the vertebral column, Delayed eruption of teeth, Umbilical hernia, Do... ORPHA:77301
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Vertebral wedging, Biconcave vertebral bodies, Kyphoscoliosis, Coxa va... OMIM:610968
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa... OMIM:619638
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Micrognathia, Scoliosis, Mandi... OMIM:617675
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Advanced eruption of teeth, Roun... ORPHA:2348
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis, Abnormal muscle fiber protein expression ORPHA:330054
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Lateral ventricle dilata... OMIM:210710
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Small hand, Retrognathia, Clinodactyly, Short finger, Sandal gap, Radial d... OMIM:270450
Silver-Russell Syndrome 3
Small hand, Retrognathia, Elbow contracture, Antecubital pterygium, Clinodactyly of the 5th finge... OMIM:616489
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Death in childhood, Prominence of t... OMIM:602535
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Facial asymmetry, Clinodactyly of the 5th finger, Triangular fac... ORPHA:231147
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Micrognathia, Weakness of facial musculature, Inc... ORPHA:502423
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Microretrognathia, Cardio... OMIM:616866
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Dilated cardiomyopathy, Micrognathia, Mitral regurgitation, Upslanted palp... ORPHA:261250
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ptosis, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Schisis Association
Micromelia, Unilateral cleft lip, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, A... ORPHA:63862
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Mitochondrial Myopathy, Infantile, Transient
Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Macrogloss... OMIM:500009
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Occipital encephalocele, Lateral ventricle dilatation, Cervical spinal can... ORPHA:397715
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Ptosis, Myopathy OMIM:125250
Silver-Russell Syndrome 2
Intrauterine growth retardation, Micrognathia, 2-3 toe syndactyly, Clinodactyly of the 5th finger... OMIM:618905
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Ohdo Syndrome, X-Linked
Sparse eyebrow, Clinodactyly, Short thumb, Downslanted palpebral fissures, Overlapping toe, Micro... OMIM:300895
Peroxisome Biogenesis Disorder 11A (Zellweger)
Large face, Triangular face, Wide anterior fontanel OMIM:614883
Fontaine Progeroid Syndrome
Aplastic/hypoplastic lacrimal glands, Micrognathia, Neonatal death, Syndactyly, Short palpebral f... OMIM:612289
Sotos Syndrome
Narrow face, Long metacarpals, Sparse eyebrow, Downslanted palpebral fissures, Genu valgum, Narro... OMIM:117550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Downslanted palpebral fissures, Polydactyly, Epicanthus, Hydrocephalus, Syndactyly OMIM:602501
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Flat face, Upslanted palpebral fissure, Synophrys OMIM:618154
X-Linked Mandibulofacial Dysostosis
Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Micrognathia, Branchial anomaly... ORPHA:1131
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Absent o... ORPHA:93271
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Limited elbow movement, Age... OMIM:134780
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... OMIM:277170
Mulibrey Nanism
Dental malocclusion, Congestive heart failure, Intrauterine growth retardation, Single transverse... OMIM:253250
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Intrauterine growth retardation, Arrhythmia, Cleft palate, Enamel hypoplasia, Brachydactyly, Shor... OMIM:619184
Short Stature, Brussels Type
Delayed epiphyseal ossification, Abnormal facial shape, Microretrognathia, Triangular face ORPHA:2867
Acalvaria
Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate ORPHA:945
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Micrognathia, Upslanted palpebral fissure, Short neck,... ORPHA:1752
Three M Syndrome 3
Slender long bone, Increased vertebral height, Short neck, Prominent calcaneus, Hyperlordosis, Hi... OMIM:614205
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Ptosis OMIM:617235
Caudal Duplication
Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spina bifida, Abnormal sacrum morp... ORPHA:1756
Transaldolase Deficiency
Intrauterine growth retardation, Telangiectasia, Short neck, Triangular face, Wide anterior fonta... OMIM:606003
Hennekam Syndrome
Flat face, Finger syndactyly, Retrognathia, Delayed eruption of teeth, Camptodactyly of finger, E... ORPHA:2136
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Kyphoscoli... OMIM:151100
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Myelomeningocele, Telecanthus, Thick eyebrow, Orofacial cleft, White eye... OMIM:193500
Nabais Sa-De Vries Syndrome, Type 2
Sparse eyebrow, Micrognathia, Bilateral cleft palate, Bilateral cleft lip, Long palpebral fissure... OMIM:618829
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
Coarse facial features, Triangular face, Blepharophimosis ORPHA:293707
Orofaciodigital Syndrome Viii
Short tibia, Telecanthus, Polydactyly, Cleft palate, Syndactyly OMIM:300484
Amish Lethal Microcephaly
Cleft soft palate, Micrognathia, Death in infancy, Agenesis of corpus callosum, Limb hypertonia, ... ORPHA:99742
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Overlapping toe, Overlapping fingers, Long toe, Cutaneous syndactyly, Long... OMIM:618316
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Sparse eyebrow, Downslanted palpebral fissures, Lumbar hyperlordosis, Malar flattening, Upslanted... ORPHA:457359
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Tarp Syndrome
Short palpebral fissure, Subdural hemorrhage, Clinodactyly, Intrauterine growth retardation, Micr... OMIM:311900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Lower limb muscle weakness, Bilateral ptosis, Ragged-red muscle fibers, ... OMIM:616479
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Delayed eruption of teeth, Intrauterine growth retardation, Microg... OMIM:247200
Orofaciodigital Syndrome I
Carious teeth, Microretrognathia, Clinodactyly, Radial deviation of finger, Downslanted palpebral... OMIM:311200
Ophthalmoplegia, External, And Myopia
Ptosis, Spina bifida OMIM:311000
Endocrine-Cerebroosteodysplasia
Natal tooth, Micrognathia, Fibular bowing, Agenesis of corpus callosum, Talipes equinovarus, Bowe... OMIM:612651
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Rhizomelia, Microretrognathia, Natal tooth, Short tibia, Sparse eyebrow... OMIM:616300
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Skeletal muscle atrophy, Finger syndactyly, Absent hand, Microg... ORPHA:570
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Neo... OMIM:256520
9Q21.13 Microdeletion Syndrome
Polydactyly, Vertebral segmentation defect, Long palpebral fissure, Ptosis, Hip dysplasia, Scoliosis ORPHA:531151
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Retrognathia, Postaxial foot polydactyly, Tricuspid r... OMIM:619879
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Intrauterine growth retardation, Arrhythmia, Ap... ORPHA:500
Kbg Syndrome
Radial deviation of finger, Downslanted palpebral fissures, Ulnar deviation of the 2nd finger, Te... OMIM:148050
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Micrognathia, Death in infanc... ORPHA:1393
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly, Decreased muscle mass, Intrauterine growth retardation, Micrognathia, Narrow joint ... ORPHA:96182
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Jacobsen Syndrome
Aortic valve stenosis, Toe syndactyly, Finger syndactyly, Long hallux, Agenesis of corpus callosu... ORPHA:2308
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Umbilical hernia, Intrauterine growth retardation, Thick eyebrow, Malar flattening, Epicanthus, C... ORPHA:1292
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Sparse eyebrow, Downslanted palpebral fissures, Malar flattening, Upslante... OMIM:617011
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Epi... OMIM:258860
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Micrognathia, Flexion contracture OMIM:620240
Paganini-Miozzo Syndrome
Lateral ventricle dilatation, Downslanted palpebral fissures, Malar flattening, Triangular face, ... OMIM:301025
Intellectual Developmental Disorder With Neuropsychiatric Features
Highly arched eyebrow, Triangular face, Downslanted palpebral fissures OMIM:617532
Alfadhel Syndrome
Talipes equinovarus, Triangular face, Highly arched eyebrow, Retrognathia OMIM:620655
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Atelis Syndrome 2
Short palpebral fissure, Clinodactyly, Micrognathia, Single transverse palmar crease, Dacryocysto... OMIM:620185
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Epicanthus, Internally nucleated skeletal muscle fibers ORPHA:324581
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
15q26 overgrowth syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Micrognathia, Arachnodactyly, Short neck... DECIPHER:81
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Scoliosis... OMIM:619518
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Preaxial polydactyly, Micrognathia, Neonatal death, Fibular hypoplasia,... OMIM:617925
Silver-Russell Syndrome 1
Craniofacial disproportion, Intrauterine growth retardation, Micrognathia, Triangular face, Clino... OMIM:180860
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hypoplasia of the maxilla, Dental maloccl... OMIM:610829
Mend Syndrome
Aortic valve stenosis, Microretrognathia, Broad hallux, Overlapping toe, Micrognathia, Overlappin... OMIM:300960
Hennekam-Beemer Syndrome
Hypotension, Camptodactyly of finger, Micrognathia, Upslanted palpebral fissure, Arrhythmia, Tela... ORPHA:2135
Mullegama-Klein-Martinez Syndrome
Submucous cleft of soft and hard palate, Micrognathia, Curly eyelashes, Congenital diaphragmatic ... OMIM:301022
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Atrioventric... OMIM:142900
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of the long bones, Postaxial ... OMIM:603194
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flat face, Lateral ventricle dilatation, Trident pelvis, Short humerus, Bowed humerus, Brachydact... OMIM:619479
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Partial agenesis of the corpus callosum, Nasofrontal e... ORPHA:101030
Holoprosencephaly 1
Tessier cleft, Alobar holoprosencephaly, Median cleft palate, Ethmocephaly OMIM:236100
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Eversion of lateral third of lower eyelids, Dental malocclusion, Branchial anomaly, Vertebral seg... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Eversion of lateral third of lower eyelids, Dental malocclusion, Branchial anomaly, Vertebral seg... ORPHA:352665
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Intrauterine growth retardation, Agenesis of cor... OMIM:609053
Nizon-Isidor Syndrome
Thoracolumbar kyphosis, Sparse eyebrow, Prominent fingertip pads, Downslanted palpebral fissures,... OMIM:618872
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Genu valgum, Agenesis of corpus callosum, Blepharophimosis... OMIM:164210
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Prominent fingertip pads, Long eyelashes, Upslanted palpebral fissure, Facial asymmetry, Clinodac... ORPHA:231137
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Aplasia/Hypoplasia of the sacrum, Aplasia/Hypoplasia involving the... ORPHA:2879
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Micrognathia, Single transverse palmar crease, Postaxial polyda... OMIM:617527
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Downslanted palpebral fissures, Clinodactyly of the 5th finger, Down-sloping... OMIM:227330
Schimke Immunoosseous Dysplasia
Platyspondyly, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis, Transient ... OMIM:242900
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Trichiasis, Clinodactyly, Tricuspid regurgitation, Intrauterine growth ret... OMIM:618460
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Small hand, Short palpebral fissure, Skeletal muscle atrophy, Clinodactyly, Epicanthus inversus, ... OMIM:309590
Limb Body Wall Complex
Progressive congenital scoliosis, Abnormality of the vertebral column, Broad hallux, Myelomeningo... ORPHA:2369
Myopathy, Myofibrillar, 4
Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto... OMIM:609452
Osteogenesis Imperfecta
Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, Genu valgum,... ORPHA:666
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Abnormal hip bon... ORPHA:1110
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Retrognathia, Death in infancy, Myopathy, Neonatal death OMIM:300219
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Poland Syndrome
Small hand, Finger syndactyly, Congenital diaphragmatic hernia, Encephalocele, Aplasia/Hypoplasia... ORPHA:2911
Spinocerebellar Ataxia 28
Ptosis, Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Lathosterolosis
Postaxial foot polydactyly, Toe syndactyly, Downslanted palpebral fissures, Intrauterine growth r... ORPHA:46059
Kinsship Syndrome
Mesomelia, Mandibular prognathia, Short palpebral fissure, Micrognathia, Single transverse palmar... OMIM:619297
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Lateral ventricle dilatation, Talipes equinovarus, Finger joint hypermobility, Tricuspid regurgit... OMIM:620371
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Intrauterine growth retardation, Death in infancy, Postaxial polydactyly, Epicanthu... OMIM:614576
3Q27.3 Microdeletion Syndrome
Downslanted palpebral fissures, Kyphoscoliosis, Arachnodactyly, Triangular face, Mandibular progn... ORPHA:397695
Carpenter Syndrome 2
Carious teeth, Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, Short neck, Epicant... OMIM:614976
Isolated Arrhinia
Tessier cleft ORPHA:1134
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Abnormality of the temporomandib... ORPHA:258
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Abnormal facial shape, Triangular face, Long face ORPHA:544254
Cranioectodermal Dysplasia 2
Clinodactyly, Micrognathia, Sparse eyelashes, Epicanthus, Short neck, Blepharophimosis, Narrow pa... OMIM:613610
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Single transver... OMIM:612949
Dubowitz Syndrome
Short palpebral fissure, Carious teeth, Delayed eruption of teeth, Sparse lateral eyebrow, Teleca... OMIM:223370
Tolchin-Le Caignec Syndrome
Short palpebral fissure, Hooded eyelid, Umbilical hernia, Micrognathia, Diastasis recti, Thick ey... OMIM:618971
Hallermann-Streiff Syndrome
Sparse eyebrow, Natal tooth, Dental malocclusion, Slender long bone, Downslanted palpebral fissur... OMIM:234100
Silver-Russell Syndrome 5
Intrauterine growth retardation, Triangular face OMIM:618908
Charcot-Marie-Tooth Disease Type 1E
Calf muscle hypoplasia, Peroneal muscle atrophy, Joint contracture of the hand, Hyporeflexia of u... ORPHA:90658
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Rhizomelia, Short palpebral fissure, Clinodactyly, Downslanted palpebral fi... OMIM:614114
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Marfan Syndrome
Aortic regurgitation, Narrow face, Skeletal muscle atrophy, Retrognathia, Congestive heart failur... ORPHA:558
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Overlapping toe, Congenital... OMIM:613406
Vacterl With Hydrocephalus
Absence of the sacrum, Abnormal form of the vertebral bodies, Retrognathia, Intrauterine growth r... ORPHA:3412
Xq12-Q13.3 Duplication Syndrome
Cutaneous finger syndactyly, 2-3 toe syndactyly, Epicanthus, Triangular face, Generalized amyotrophy ORPHA:314389
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Epicanthus, Hip d... ORPHA:84
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Micrognathia, Death in infancy, Arachno... OMIM:619036
Fliedner-Zweier Syndrome
Epicanthus, Hallux valgus, Meningocele, Scoliosis, Kyphosis OMIM:620511
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Hypoplastic sacrum... OMIM:614813
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Clinodactyly, Micrognathia, Agenesis of corpus callosum, Absent eyelashes, Talipes e... OMIM:264090
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... ORPHA:1349
Cutis Laxa, Autosomal Recessive, Type Iid
Retrognathia, Congestive heart failure, Hypertrophic cardiomyopathy, Downslanted palpebral fissur... OMIM:617403
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Cleft soft palate, Epicanthus, Short neck, Moon facies, Short palpebral fissure, Prominent finger... OMIM:619950
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath... OMIM:619424
Distal 17P13.1 Microdeletion Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Abnormal hand morphology, Limited elbow movement,... ORPHA:319171
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Agenesis of corpus callosum, Spina b... OMIM:207950
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Talipes equinovarus, A... OMIM:312870
Renpenning Syndrome 1
Narrow face, Joint contracture of the hand, Mandibular prognathia, Synostosis of the proximal pha... OMIM:309500
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Rhabdomyolysis, Muscle fiber necros... ORPHA:449285
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Epicanthus, Short hallux, Genu varum, Long... OMIM:616268
Nicolaides-Baraitser Syndrome
Broad 2nd toe, Unilateral narrow palpebral fissure, Absent eyebrow, Narrow palpebral fissure, Sho... OMIM:601358
Tarp Syndrome
Short palpebral fissure, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Intraute... ORPHA:2886
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... OMIM:614091
Aicardi Syndrome
Block vertebrae, Lateral ventricle dilatation, Sparse lateral eyebrow, Butterfly vertebrae, Promi... OMIM:304050
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Sandal gap, Downslanted palpebral fissures, Agenesis of corpus callos... OMIM:174300
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Natal tooth, Clinodactyly, Large placenta, M... OMIM:249000
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Abnormality of skeletal muscle f... ORPHA:79083
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Ptosis, Bradycardia, ... OMIM:609286
Cree Impaired Intellectual Development Syndrome
Downslanted palpebral fissures, Cutaneous finger syndactyly, Cleft soft palate, Micrognathia, Tri... OMIM:606851
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Marbach-Rustad Progeroid Syndrome
Eruption failure, Intrauterine growth retardation, Micrognathia, Delayed eruption of primary teet... OMIM:619322
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Occipital meningocele, Congenital diaphragma... OMIM:616546
Distal Deletion 15Q
2-3 toe cutaneous syndactyly, Short distal phalanx of finger, Small hand, Finger clinodactyly, Sh... ORPHA:1596
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, Finger clinodactyly, Preaxial polydactyly, Micrognathia, Epicanthus, Hand ... ORPHA:2754
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Hip dislocation, Hip subluxation, Decreased muscle mass, Congestive heart failure, Elbow flexion ... ORPHA:1900
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Short humerus, Talipes equinovarus, Epi... OMIM:607143
Stromme Syndrome
Preaxial polydactyly, Micrognathia, Myopathy, Agenesis of corpus callosum, Hydrocephalus, Stillbi... OMIM:243605
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Telecanthus, Med... ORPHA:1827
Slc39A8-Cdg
Flat face, Cutaneous syndactyly of toes, Elbow flexion contracture, Knee flexion contracture, Lim... ORPHA:468699
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy, Abnormal facial shape, Triangular face, Long face ORPHA:85329
Faciocardiomelic Syndrome
Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Telecanthus, Micrognathia, Hy... OMIM:612731
Alg3-Cdg
Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Arthro... ORPHA:79321
Short Syndrome
Dental malocclusion, Delayed eruption of teeth, Clinodactyly, Slender long bone, Radial deviation... OMIM:269880
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Schinzel-Giedion Syndrome
Overlapping toe, Micrognathia, Overlapping fingers, Radioulnar synostosis, Short neck, Neural tub... ORPHA:798
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Charge Syndrome
Abnormal tibia morphology, Epicanthus, Aqueductal stenosis, Holoprosencephaly, Eyelid coloboma, P... ORPHA:138
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Myopathy ORPHA:588
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Agenesis of corpus callosum, Weaknes... OMIM:616239
Short Syndrome
Abnormal mandible morphology, Abnormal dental enamel morphology, Telecanthus, Malar flattening, B... ORPHA:3163
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Joubert Syndrome 37
Postaxial polydactyly, Lumbar hyperlordosis, Ptosis OMIM:619185
Lymphangiectasia, Pulmonary, Congenital
Flat face, Palpebral edema, Malar flattening OMIM:265300
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Hand clenching, Hypoplasia of the maxilla, Mandibular prognathia, Tricuspid... OMIM:617402
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Muscle fiber atrophy, R... ORPHA:300605
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly OMIM:615996
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Bilateral ptosis, Palpit... OMIM:255125
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Foot dorsiflexor weakness, Ragged-red muscle fibers, Abnormality of the ex... ORPHA:298
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Death in infancy, My... OMIM:604377
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Scoliosis, Brachydactyly, Short long bone, Polydactyly OMIM:613819
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Micrognathia, Malar fl... OMIM:225060
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Agenesis of corpus callosum, Postaxial polydactyly, Upper eyelid entropion, Facial ... ORPHA:457284
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Sandal gap, Downslanted palpebral fissures, Foot dorsiflexor weakness, 2-3 toe... ORPHA:477817
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Vertebral segmentation d... OMIM:613686
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Elbow dislocation, Clinodactyly, Slender long bone, Hypoplasia of the ... OMIM:613805
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Muscular dystrophy, Downslanted palpebral fissures, Intrauterine growth ret... ORPHA:1052
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Agenesis of corpus callosum, Arachnodactyly, Epicanthus, Blepharophimosis, L... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Agenesis of corpus callosum, Arachnodactyly, Epicanthus, Blepharophimosis, L... ORPHA:363958
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Micrognathia, Epicanthus, Short neck, Round face, Aortic regurgitat... OMIM:612474
Silver-Russell Syndrome 4
Triangular face OMIM:618907
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Epicanthus, Short neck, Clef... OMIM:618223
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Arachnodactyly, Talipes equinovarus, Short neck, Epicanthus, Foot po... ORPHA:567
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxia... OMIM:611134
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dilat... OMIM:607459
Degcags Syndrome
Toe syndactyly, Micrognathia, Genu valgum, Agenesis of corpus callosum, Talipes equinovarus, Tach... OMIM:619488
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Short palpebral fissure, Postaxial polydactyly, Facial asymmetry, Cleft palate, Hip d... OMIM:300968
Craniofacioskeletal Syndrome
Small hand, Short palpebral fissure, Downslanted palpebral fissures, Intrauterine growth retardat... OMIM:300712
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Focal Dermal Hypoplasia
Toe syndactyly, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Telangiectasia, Foo... OMIM:305600
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Genu valgum, Postaxial polydactyly, Limb undergrowth, Long face OMIM:619142
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Sparse lateral eyebrow, Downslanted palpebral fissures, Telecanthus, Micrognathia, Polydactyly, P... ORPHA:314655
Hypotonia-Cystinuria Syndrome
Ptosis, Long eyelashes, Facial palsy, Ragged-red muscle fibers OMIM:606407
Nephronophthisis 15
Polydactyly OMIM:614845
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Retrognathia, Camptodactyly of ... ORPHA:2462
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Acromesomelia, Toe syndactyly, Intrauterine growth r... ORPHA:464306
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Global Developmental Delay With Speech And Behavioral Abnormalities
Micrognathia, Triangular face, Downslanted palpebral fissures OMIM:619243
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertrophic cardiomyopa... ORPHA:17
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Calf muscle hypertrophy... ORPHA:119
Phakomatosis Pigmentokeratotica
Hemiatrophy, Arrhythmia, Raynaud phenomenon, Spina bifida, Rhabdomyosarcoma, Scoliosis ORPHA:2874
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Humero-Radial Synostosis
Elbow dislocation, Abnormality of the wrist, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, ... ORPHA:3265
Joubert Syndrome 27
Triangular face, Polydactyly OMIM:617120
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ep... OMIM:276820
Fanconi Anemia, Complementation Group C
Anterior wedging of T12, Absent thumb, Short thumb, Intrauterine growth retardation, Epicanthus, ... OMIM:227645
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Downslanted palpebral fissures, Micrognathia, Radiouln... ORPHA:648
Optic Atrophy 11
Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, Facial diplegia, F... OMIM:617302
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Mevalonic Aciduria
Triangular face, Downslanted palpebral fissures ORPHA:29
Chromosome 14Q11-Q22 Deletion Syndrome
Short palpebral fissure, Micrognathia, Agenesis of corpus callosum, Epicanthus, Blepharophimosis,... OMIM:613457
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Triangular face ORPHA:1174
Curry-Jones Syndrome
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Duplicatio... OMIM:601707
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Fatty repla... ORPHA:397744
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Retrognathia, Short 5th toe, 2-4 toe cutaneous synda... ORPHA:268261
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Triangular face, Synophrys OMIM:619264
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Downslanted palpebral fissures, Lumbar hyperlordosis, Micrognathia, Intrauterine growth retardati... OMIM:616975
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Comple... ORPHA:59315
Cockayne Syndrome B
Mandibular prognathia, Carious teeth, Dental malocclusion, Square pelvis bone, Ivory epiphyses of... OMIM:133540
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Singleton-Merten Syndrome 1
Aortic valve stenosis, Carious teeth, Shallow acetabular fossae, Hypoplastic distal radial epiphy... OMIM:182250
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Agenesis of corpus callosum, Irregular sclerotic endplates, Hypoplastic ilia, Entrop... ORPHA:3455
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Os odontoideum, Intrauterine growth retardation, Talipes equinovarus, Adduc... OMIM:616603
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Syndactyly, Downsla... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Syndactyly, Downsla... ORPHA:353277
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Micrognathia, Median cleft pala... OMIM:242840
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Flat face, Carious teeth, Umbilical hernia, Transient ischemic attack... ORPHA:286
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint contracture of the hand, Hypoplasia of the maxilla, Dental malocclusion, Umbilical hernia, ... OMIM:182212
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Death in... OMIM:615368
Gaucher Disease, Perinatal Lethal
Retrognathia, Intrauterine growth retardation, Micrognathia, Neonatal death, Triangular face, Art... OMIM:608013
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Highly arched e... OMIM:619173
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Highly arched eyebrow, Retrognathia, Downslanted palpebral fissures, Mitra... OMIM:613563
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Bilateral ptosis, Single transverse palm... ORPHA:404448
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger ORPHA:1759
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... OMIM:615994
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Ov... ORPHA:672
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Fac... OMIM:602541
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short palpebral fissure, Downslanted palpebral fissures, Telecanthus, Mitral stenosis, Upslanted ... OMIM:617260
Branchiooculofacial Syndrome
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Telecanthus, Micrognathia, Bra... OMIM:113620
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Synostosis involving the 1st metacarpal, Tricuspid regurgitation, Downslanted palpebral fissures,... ORPHA:466791
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Skeletal muscle atrophy, Umbilical hernia, Tricuspid regurgitation, Cle... OMIM:614557
Congenital Sialidosis Type 2
Umbilical hernia, Abnormal EKG, Polydactyly, Telangiectasia, Coarse facial features, Hydrocephalus ORPHA:93400
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Microretrognathia, Slender long bone, Patellar hypoplasia, Downslanted... OMIM:613803
Cerebrooculonasal Syndrome
Sparse eyebrow, Malar flattening, Encephalocele, Sparse eyelashes, Postaxial polydactyly, Epicant... OMIM:605627
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Intrauterine growth retardation, Upslanted palpebral fissure, Postaxial polydactyly, Epicanthus, ... OMIM:615824
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Lacrimal gland hypoplasia, Delayed eruption of pri... OMIM:149730
Rabson-Mendenhall Syndrome
Cardiomyopathy, Intrauterine growth retardation, Polydactyly, Advanced eruption of teeth, Coarse ... ORPHA:769
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a... OMIM:164310
Joubert Syndrome 40
Postaxial polydactyly, Almond-shaped palpebral fissure OMIM:619582
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Sandal gap, Tricuspid regurgitation, Decreased fibular diameter, Dysplasia of the... OMIM:619127
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Broad hallux, Preaxial polydactyly, Tele... OMIM:615948
Floating-Harbor Syndrome
Carious teeth, Broad thumb, Short 1st metacarpal, Umbilical hernia, Ivory epiphyses of the distal... OMIM:136140
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, Abnormal morpholo... ORPHA:600
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Myopathy, Epicanthus, Short neck, Ptosis, Muscle ... OMIM:611881
Overlap Myositis
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Finger swelling, Su... ORPHA:206572
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Retrognathia, Umbilical hernia, Micrognathia, Spondylolisthesis, M... OMIM:610168
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ptosis, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Ragged-red muscle... ORPHA:70595
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Telecanthus, Micrognathia, Upslanted palpebral fissure, Down-sloping shoulders... ORPHA:1974
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Agenesis of corpus callosum, Talipes equinovarus, Wrist flexion contrac... OMIM:618733
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Narrow face, Upslanted palpebral fissure, Epicanthus, Macroglossia, Triangular face, Long face ORPHA:93947
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
Noonan Syndrome 1
Dental malocclusion, Clinodactyly, Radial deviation of finger, Downslanted palpebral fissures, Hy... OMIM:163950
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Meningocele, Ptosis, Blepharophimosis ORPHA:2031
Partington Syndrome
Facial telangiectasia, Triangular face ORPHA:94083
Feingold Syndrome 1
Short palpebral fissure, Short thumb, Short toe, Micrognathia, Upslanted palpebral fissure, 2-3 t... OMIM:164280
Peroxisome Biogenesis Disorder 13A (Zellweger)
Micrognathia, Triangular face, Neonatal death OMIM:614887
Sacral Defect With Anterior Meningocele
Absence of the sacrum, Myelomeningocele, Myeloschisis, Back pain, Hydrocephalus, Anterior sacral ... OMIM:600145
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Ptosis OMIM:530000
Maternal Uniparental Disomy Of Chromosome 6
Slender long bone, Intrauterine growth retardation, Triangular face, Cleft palate, Miscarriage ORPHA:96181
Yuan-Harel-Lupski Syndrome
Sandal gap, Downslanted palpebral fissures, Upslanted palpebral fissure, Epicanthus, Clinodactyly... OMIM:616652
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Telecanthus, Micrognathia, 2-3 toe syndactyly, Postax... OMIM:614099
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left... ORPHA:254892
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Downslanted palpebral fissures, Epicanthus, Spina bifida, Unilateral facial palsy, Torticollis, P... OMIM:619480
Cutis Laxa, Autosomal Recessive, Type Iiib
Elbow flexion contracture, Intrauterine growth retardation, Narrow palpebral fissure, Flexion con... OMIM:614438
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Agenesis of corpus callosum, Dysplastic corpus callosum, Ptosis, Cleft ... OMIM:614924
Neurofibromatosis, Type I
Genu valgum, Tibial pseudarthrosis, Hypertension, Lisch nodules, Hydrocephalus, Spina bifida, Aqu... OMIM:162200
Cloacal Exstrophy
Myelomeningocele, Abnormal tibia morphology, Talipes equinovarus, Spina bifida, Hemivertebrae, Ab... ORPHA:93929
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele ORPHA:2481
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Preaxial polydactyly, Intrau... OMIM:192350
Legius Syndrome
Xanthelasma, Polydactyly, Paroxysmal atrial tachycardia, Clinodactyly of the 5th finger, Scoliosi... ORPHA:137605
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Increased muscle glycogen content OMIM:232800
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft of the upper lip, Bilateral cleft palate, Facial asymmetry, Meningocele, Hip di... ORPHA:2003
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn... OMIM:617895
Mevalonic Aciduria
Downslanted palpebral fissures, Triangular face, Kyphoscoliosis OMIM:610377
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short 5th finger, Carious teeth, Short thumb, Short finger, Downslanted palpebral fissures, Telec... OMIM:619522
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Septooptic Dysplasia
Polydactyly, Agenesis of corpus callosum, Short finger OMIM:182230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy, Hydrocephalus OMIM:616538
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Left ventricular h... OMIM:209900
Hypotonia, Ataxia, And Delayed Development Syndrome
Epicanthus inversus, Horizontal eyebrow, Downslanted palpebral fissures, Thick eyebrow, Upslanted... OMIM:617330
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Short palpebral fissure, Cardiomyopathy, ... ORPHA:480880
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, ... ORPHA:268810
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Umbilical hernia, Generalized muscular appearance from birth, Large hands, Triang... OMIM:608594
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Skeletal muscle atrophy, Retrognathia, Cardiomyopathy, ... ORPHA:110
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscl... OMIM:607426
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Lower limb muscle weakness, Palpitations, Rhabdomyolysis, S... ORPHA:79102
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Cardiomyopathy, Congestive heart failure, Generalized limb muscle atrophy, Hand ... ORPHA:98908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Muscular dystrophy, Increased endomysial connective tissue, Lateral ventricle dilatation, Hydroce... OMIM:613154
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Clinodactyly, Intrauterine growth retardation, Limb undergrowth, Triangul... OMIM:616541
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Intrauterine growth retardation, Mitral regurgita... ORPHA:90348
Melas
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... ORPHA:550
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Carious teeth, Clinodactyly, Short thumb, Persistence of primary teeth... ORPHA:2044
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hypertrophic cardiomyopathy, Generalized muscular appearance from birth, Large ... OMIM:269700
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
Pagod Syndrome
Encephalocele, Congenital diaphragmatic hernia, Death in infancy, Arrhythmia, Spina bifida, Menin... ORPHA:991
Ehlers-Danlos Syndrome, Classic-Like, 1
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Sirenomelia
Aplasia/Hypoplasia of the radius, Sirenomelia, Absence of the sacrum, Spina bifida ORPHA:3169
Neurocardiofaciodigital Syndrome
Sparse eyebrow, Lateral ventricle dilatation, Retrognathia, Polydactyly, Narrow palpebral fissure... OMIM:619869
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Downslanted palpebral fissures, Aplasia of the epiglottis, Postaxial polyd... OMIM:617088
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Rag... OMIM:252010
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Polydactyly, Hypertension, Scoliosis, Kyphosis OMIM:203800
Combined Oxidative Phosphorylation Deficiency 58
Epicanthus, Ptosis, Ragged-red muscle fibers OMIM:620451
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Abnormality of the shoulder girdle musculature, Palpitations, In... ORPHA:565612
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension, Median cleft palate, Decreased cervical spine mobility, Polydactyly, Abnormal digit ... ORPHA:95494
Microphthalmia, Syndromic 6
Toe syndactyly, Finger syndactyly, Retrognathia, Thumb contracture, Micrognathia, Single transver... OMIM:607932
Alobar Holoprosencephaly
Agenesis of corpus callosum, Cleft palate, Hydrocephalus, Abnormal heart rate variability, Flexio... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Agenesis of corpus callosum, Cleft palate, Hydrocephalus, Abnormal heart rate variability, Flexio... ORPHA:93926
Lobar Holoprosencephaly
Agenesis of corpus callosum, Cleft palate, Hydrocephalus, Abnormal heart rate variability, Flexio... ORPHA:93924
Semilobar Holoprosencephaly
Agenesis of corpus callosum, Cleft palate, Hydrocephalus, Abnormal heart rate variability, Flexio... ORPHA:220386
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ptosis, Distal amyotrophy, Death in early adulthood, Ragged-red muscle fibers OMIM:603041
Alagille Syndrome 2
Triangular face, Hypertension, Pulmonic stenosis OMIM:610205
Pancreatic And Cerebellar Agenesis
Overlapping fingers, Death in infancy, Severe intrauterine growth retardation, Flexion contractur... OMIM:609069
Joubert Syndrome 39
Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger OMIM:619562
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sparse eyebrow, Palmoplantar keratoderma, Sparse eyelashes, Flexion contracture of finger, Absent... ORPHA:1010
Knobloch Syndrome 1
Narrow face, Occipital encephalocele, Horizontal eyebrow, Telecanthus, Epicanthus, Spina bifida o... OMIM:267750
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Bidirectional shunt, Broad thumb, Lateral ventricle dilatation, Tricuspid r... OMIM:619534
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Triangular face ORPHA:65288
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Cntnap2-Related Developmental And Epileptic Encephalopathy
Downslanted palpebral fissures, Preaxial polydactyly ORPHA:163681
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Choanal Atresia
Chronic sinusitis, Polydactyly ORPHA:137914
Okamoto Syndrome
Aortic valve stenosis, Polydactyly, Long palpebral fissure, Ptosis, Hip dysplasia, Scoliosis, Cle... ORPHA:2729
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Phosphoribosylpyrophosphate Synthetase Superactivity
Downslanted palpebral fissures, Death in childhood, Epicanthus, Ptosis, Triangular face OMIM:300661
Alagille Syndrome 1
Short distal phalanx of finger, Upslanted palpebral fissure, Butterfly vertebral arch, Hypoplasia... OMIM:118450
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Lateral ventricle dilatation, Triangular face, Hydrocephalus OMIM:619575
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Rhabdomyolysis, Neonatal death, Ptosis OMIM:124000
Choreoacanthocytosis
Peroneal muscle atrophy, Blepharospasm, Distal amyotrophy, Dilated cardiomyopathy, Temporomandibu... ORPHA:2388
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Mitochondrial Dna-Associated Leigh Syndrome
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiac conduction abnormality, Ragged-red m... ORPHA:255210
1P36 Deletion Syndrome
Dilated cardiomyopathy, Horizontal eyebrow, Camptodactyly of finger, Abnormal eyebrow morphology,... ORPHA:1606
Arima Syndrome
Postaxial foot polydactyly, Occipital meningocele, Ptosis, Postaxial hand polydactyly, Hypertension OMIM:243910
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Ptosis, Triangular face, Orthostatic hypotension OMIM:615510
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Hypertrophic cardiomyopathy, Triangular face, 2-3 toe syndactyly OMIM:616539
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Triangular face ORPHA:85327
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly, Hydrocephalus OMIM:219730
Liver Disease, Severe Congenital
Umbilical hernia, Intrauterine growth retardation, Micrognathia, Epicanthus, Abnormal left ventri... OMIM:619991
Culler-Jones Syndrome
Postaxial polydactyly, Cleft palate OMIM:615849
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly OMIM:619471
Lipodystrophy, Familial Partial, Type 7
Lower limb muscle weakness, Pulmonary arterial hypertension, Orthostatic hypotension, Triangular ... OMIM:606721
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Woodhouse-Sakati Syndrome
Aplasia/Hypoplasia of the eyebrow, Triangular face, Abnormal T-wave ORPHA:3464
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure, Triangular face OMIM:241200
Woodhouse-Sakati Syndrome
Triangular face, Abnormal T-wave OMIM:241080
Exstrophy-Epispadias Complex
Abnormality of the orbital region, Hydrocephalus, Spina bifida ORPHA:322
Bartter Syndrome Type 4
Triangular face ORPHA:89938

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ski

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ski.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cytoplasmic RNA quality control failure engages mTORC1-mediated autoinflammatory disease. The Journal of clinical investigation (January 2022) Skiv2ltm2a(EUCOMM)Wtsi PMC8759780
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Skida1tm1(KOMP)Wtsi Skint7em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Skida1tm1(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Skida1tm1(KOMP)Wtsi PMC6459510
The Transcriptional Regulator SnoN Promotes the Proliferation of Cerebellar Granule Neuron Precursors in the Postnatal Mouse Brain. The Journal of neuroscience : the official journal of the Society for Neuroscience (November 2018) Skiltm1c(EUCOMM)Hmgu Skiltm1a(EUCOMM)Hmgu 30425119
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Skida1tm1(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Skitm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Skitm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Skiem1(IMPC)Bay Exon Deletion Mice

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