banner
Genes Phenotypes Help, News, Blog

Gene: Ski MGI:98310

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes

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
Communicating hydrocephalus, Bowing of the long bones, Telecanthus, Arachnodactyly, Camptodactyly... ORPHA:2462
Shprintzen-Goldberg Craniosynostosis Syndrome
Ptosis, Telecanthus, Arachnodactyly, Micrognathia, Metatarsus adductus, Hypoplasia of the maxilla... OMIM:182212
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Epicanthus, Camptodactyly of finger, Kyphosis, Dilated cardiomyopath... ORPHA:1606

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fryns Microphthalmia Syndrome
Neural tube defect, Facial cleft OMIM:600776
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Narrow face, Synophrys, Abnormal form of the vertebral bodies, Long face, ... ORPHA:1327
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture... OMIM:305620
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Neonatal death, Arthrogrypo... OMIM:253310
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the... OMIM:255800
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Rhizomelic Chondrodysplasia Punctata, Type 1
Rhizomelia, Kyphoscoliosis, Micrognathia, Flexion contracture, Flared metaphysis, Upslanted palpe... OMIM:215100
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Epicanthus, Facial palsy, Hypoplasia of the musculature, Micrognathia, T... OMIM:254940
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Coarse facial features, Arachnodactyly, Hypoplasia of the musculature,... ORPHA:2463
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Epicanthus, Rhizomelia, Large face, Hyper... ORPHA:2831
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Micrognathia, Short neck, Synophrys, Flexion contracture, Generalized amyotro... OMIM:620369
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Tetrasomy 5P
Epicanthus, Coarse facial features, Overlapping toe, Short hallux, Micrognathia, Short neck, Long... ORPHA:3309
Sprengel Deformity
Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature ORPHA:3181
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Micrognathia, Hydrocephalus, Pterygium, Hydranencephaly, Intrauter... OMIM:225790
3Mc Syndrome 2
Ptosis, Prominence of the premaxilla, Torticollis, Diastasis recti, Limited elbow movement, Highl... OMIM:265050
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte... ORPHA:439822
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, ... ORPHA:75840
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Epicanthus, Micromelia... ORPHA:1240
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Short long bone, Small epip... OMIM:620269
Sprengel Deformity
Spina bifida occulta, Shoulder muscle hypoplasia, Neck muscle hypoplasia OMIM:184400
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Epicanthus, Arachnodactyly, Camptodactyly of finger, Short ... ORPHA:2994
Marinesco-Sjögren Syndrome
Short palm, Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphy... ORPHA:559
Wiedemann-Steiner Syndrome
Micrognathia, Synophrys, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Br... OMIM:605130
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Congenital hip dislocation, Achilles tendon contracture, Dental malocclusio... OMIM:619719
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Epicanthus, Elbow contrac... OMIM:620310
Larsen-Like Syndrome
Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Talipes equinovarus, Radial deviatio... OMIM:608545
Hypertelorism, Microtia, Facial Clefting Syndrome
Micrognathia, 2-3 toe syndactyly, Facial cleft, Small thenar eminence, Abnormality of the vertebr... OMIM:239800
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion ... OMIM:193700
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... ORPHA:1248
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... OMIM:228520
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft ORPHA:3374
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Limited wrist... ORPHA:602
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Micrognathia, Flat acetabular roof, Abnormal form of the ve... ORPHA:1801
Blepharophimosis-Impaired Intellectual Development Syndrome
Ptosis, Epicanthus, Sparse eyelashes, Highly arched eyebrow, Tapered finger, Sparse eyebrow, Blep... OMIM:619293
Craniofacial-Deafness-Hand Syndrome
Narrow face, Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, La... ORPHA:1529
Intellectual Developmental Disorder, Autosomal Dominant 59
Sacral dimple, Facial hypotonia, Highly arched eyebrow, Short foot, Short palm, Long palpebral fi... OMIM:618522
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebra... ORPHA:3101
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Coarse facial features, Micrognathia, Carious teeth, Hypoplastic p... ORPHA:93346
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Achilles tendo... OMIM:300696
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Telecanthus, Coxa valga, Hypoplasia of the maxilla, Hydrocephalus, Hip dislocation, Abnormality o... OMIM:109120
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, M... ORPHA:1865
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Micrognathia, Genu valgum, Irregular vertebral endplates, Platyspondyly, Ab... ORPHA:250984
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Long face, Epicanthus, Single transverse palmar crease, Micrognathia, Narrow palpebral fissure, C... OMIM:613604
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Round face, Micromelia, Micrognathia, ... OMIM:224400
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Facial cleft, Holoprosencephaly, Anterior encephalocele OMIM:601357
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Brachydactyly, Carious teeth, Small hand, Facial cleft, Hyp... ORPHA:1786
Chromosome 5Q12 Deletion Syndrome
Long toe, Epicanthus, Sacral dimple, Coarse facial features, Micrognathia, Short neck, Long finge... OMIM:615668
Childhood-Onset Nemaline Myopathy
Long face, Scapular winging, Narrow face, Spinal rigidity, Micrognathia, Flexion contracture, Inc... ORPHA:171439
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Genu ... OMIM:614078
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Tricuspid regurgitation, Abnormal size of the palpebral fissures, Camptoda... ORPHA:1101
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Intellectual Developmental Disorder, Autosomal Recessive 45
Round face, Coarse facial features, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure... OMIM:615979
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Stillbirth, Absent or minimally ossified vertebral bodies, Umbilica... OMIM:600972
Oculomaxillofacial Dysostosis
Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Abnormal eyelid... ORPHA:1794
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Tal... OMIM:224410
Distal Monosomy 7Q36
Large face, Micrognathia, Short neck, Symphalangism affecting the phalanges of the hand, Upslante... ORPHA:1636
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Codas Syndrome
Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Epicanthus, Abno... ORPHA:1458
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... OMIM:619042
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Epicanthus, Retrognathia, Hypoplasia of the musculature ORPHA:85323
Anophthalmia Plus Syndrome
Spina bifida, Facial cleft, Deviation of finger, Vertebral segmentation defect, Eyelid coloboma, ... ORPHA:1104
Vulto-Van Silfhout-De Vries Syndrome
Mandibular prognathia, Epicanthus, Sacral dimple, 2-3 toe cutaneous syndactyly, Upslanted palpebr... OMIM:615828
Rhizomelic Chondrodysplasia Punctata
Epicanthus, Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Scoliosis, Limb unde... ORPHA:177
Supernumerary Nostril
Facial cleft ORPHA:141096
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Ptosis, Facial asymmetry, Short neck, Hy... ORPHA:710
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Limb-gird... OMIM:620386
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Congenital hip dislocation, Kyphoscoliosis, Micrognathia, Hyperlordosis, Hypopla... ORPHA:2020
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Hypoplasia of the maxilla, Sparse ... ORPHA:306542
Neu-Laxova Syndrome
Skeletal muscle atrophy, Abnormal nasolacrimal system morphology, Spina bifida, Micrognathia, Mic... ORPHA:2671
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Epicanthus, Facial palsy, Micrognathia, Hyperlordosis, Facial hyperost... ORPHA:2780
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Abnormality of the vertebral column, Polydactyly, Stillbirth, ... ORPHA:294975
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Scapular winging, Congenital hip dislocation, Epica... OMIM:278250
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Dilated cardiomyopathy... OMIM:300718
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Round face, Talipes equinovarus, Camptodactyly, Blepharophimosis, Cervical C2/C3 vertebral fusion... OMIM:617333
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Flexion contracture, Death in adolescence, Scoliosis, Increased variability in m... OMIM:300717
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Micrognathia, Flexi... OMIM:312150
Otospondylomegaepiphyseal Dysplasia
Micrognathia, Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph... ORPHA:1427
Alg9-Cdg
Microretrognathia, Telecanthus, Ulnar deviation of the hand, Rhizomelia, Torticollis, Hypoplasia ... ORPHA:79328
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Hip dysplasia, Platysp... ORPHA:2655
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Telecanthus, Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Short neck,... OMIM:616897
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Telecanthus, Midline facial cleft, Preaxial polydactyly, Preaxial foot... OMIM:603671
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft OMIM:600251
Thoracomelic Dysplasia
Round face, Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum... ORPHA:1803
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Hip dislocation, Myopathy, Scoliosis, Increased ... OMIM:616471
Proximal 16P11.2 Microduplication Syndrome
Sparse eyelashes, Arachnodactyly, Congenital diaphragmatic hernia, Sparse eyebrow, Hemivertebrae,... ORPHA:370079
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, D... OMIM:612394
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske... OMIM:619733
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... OMIM:151210
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Aortic regurgitation, Cervical kyphosis, Highly arched eyebrow, Tapered fi... ORPHA:401923
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... OMIM:608728
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, Micrognathia, Flexi... OMIM:253290
Alagille Syndrome
Hypoplasia of the ulna, Round face, Coarse facial features, Telangiectasia of the skin, Micrognat... ORPHA:52
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Micrognathia, Short neck, Coxa vara, Wrist flexion contractu... ORPHA:800
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Bilateral ptosis, Synophrys, ... OMIM:614701
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Wide anterior fontanel, Scoliosis, Malar flattening, D... OMIM:219200
Marden-Walker Syndrome
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Micrognathia, Metatarsus adduct... ORPHA:2461
Dysostosis, Stanescu Type
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Short neck, Hypoplasia o... ORPHA:1798
Myopathy, Distal, 1
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Ra... OMIM:160500
Mosaic Trisomy 9
Rocker bottom foot, Spina bifida, Micromelia, Elbow dislocation, Camptodactyly of finger, Microgn... ORPHA:99776
Achondrogenesis Type 1B
Micromelia, Micrognathia, Short neck, Short foot, Talipes equinovarus, Umbilical hernia, Flat face ORPHA:93298
Achondrogenesis Type 1A
Micromelia, Micrognathia, Short neck, Short foot, Short palm, Umbilical hernia, Flat face ORPHA:93299
Arthrogryposis, Distal, Type 2B3
Hallux valgus, Ptosis, Ulnar deviation of the hand, Talipes equinovarus, Scoliosis, Camptodactyly... OMIM:618436
Orofaciodigital Syndrome Type 10
Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Bowing of the legs, Limb undergrowth, Limited elbow extension, Flat face ORPHA:156728
Myasthenic Syndrome, Congenital, 14
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Thanatophoric Dysplasia Type 2
Encephalocele, Micromelia, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly, Abnormal me... ORPHA:93274
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Micrognathia, Short neck, Abnormally ossified vertebrae, Lumba... ORPHA:94068
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Short phalanx of fi... OMIM:615777
Peroxisome Biogenesis Disorder 7A (Zellweger)
Death in infancy, Wide anterior fontanel, Epiphyseal stippling, Talipes equinovarus, Flat face OMIM:614872
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Camptodactyly Syndrome, Guadalajara Type 3
Thick eyebrow, Telecanthus, Symblepharon, Sternocleidomastoid amyotrophy, Short neck, Facial asym... ORPHA:488434
Emery-Nelson Syndrome
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta... ORPHA:1927
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Micrognathia, Short neck, Shoulder dislocation, Dislocated radia... OMIM:245600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Abnormal curvature of the verteb... ORPHA:93360
Achondrogenesis
Micromelia, Short neck, Micrognathia, Umbilical hernia, Flat face ORPHA:932
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Micrognathia, Synophrys, Ragged-red muscle fibers, Generalized amyotrophy, Ne... OMIM:620351
Camptodactyly Syndrome, Guadalajara, Type Iii
Small hypothenar eminence, Telecanthus, Torticollis, Symblepharon, Short neck, Spina bifida occul... OMIM:611929
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat... OMIM:117000
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... OMIM:180700
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Increased variability in m... OMIM:618654
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Facial cleft, Bifid thoracic verteb... ORPHA:268249
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ... OMIM:181400
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi... ORPHA:598
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H... OMIM:617760
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... OMIM:613204
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... ORPHA:536516
Blepharocheilodontic Syndrome 1
Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, Neural tube defect, Euryblepharo... OMIM:119580
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Round face, Epicanthus, Absent frontal sinuses, Palmoplantar keratoderma, Flat face ORPHA:2536
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te... OMIM:620389
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Dacryocystitis, Patellar hypoplasia, Abnormal facial shape, ... ORPHA:464288
Dominant Beta-Thalassemia
Bowing of the long bones, Hypoplasia of the musculature, Malar prominence, High-output congestive... ORPHA:231226
Abruzzo-Erickson Syndrome
Epicanthus, Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Malar fl... ORPHA:921
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Multiple joint contractures, Single transverse palmar... ORPHA:536471
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Wide anterior fontanel, Flat face OMIM:614859
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Adult-Onset Nemaline Myopathy
Narrow face, Micrognathia, Flexion contracture, Increased muscle lipid content, Dilated cardiomyo... ORPHA:171442
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... ORPHA:87
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Short neck, Flexion contractu... OMIM:263650
Flat Face-Microstomia-Ear Anomaly Syndrome
Telecanthus, Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Hypopl... ORPHA:1968
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Hammertoe, Distal amyotrophy, Talipes equino... OMIM:608340
Oculopharyngeal Muscular Dystrophy
Ptosis, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Sp... ORPHA:270
Oculocerebrocutaneous Syndrome
Finger syndactyly, Ptosis, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/H... ORPHA:1647
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,... OMIM:601680
Myopathy, Myofibrillar, 8
Long face, Scapular winging, Micrognathia, Spinal rigidity, Centrally nucleated skeletal muscle f... OMIM:617258
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Upslanted palpebra... OMIM:619124
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Facial cleft, Ethmoidal encephalocele OMIM:607597
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Spinal rigidity, Centrally nucleated skeletal muscle fiber... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Typical Nemaline Myopathy
Narrow face, Micrognathia, Short neck, Limb-girdle muscle weakness, Flexion contracture, Type 1 m... ORPHA:171436
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... OMIM:167320
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Short neck, Sparse eyebrow, Kyphoscoliosis, ... OMIM:302960
Myopathy, Distal, 5
Myopathy, Distal upper limb muscle weakness, Distal amyotrophy, Muscle fiber splitting, Weakness ... OMIM:617030
Three M Syndrome 1
Mandibular prognathia, Scapular winging, Short neck, Hyperlordosis, Increased vertebral height, H... OMIM:273750
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Micrognathia, Congenital contracture, Scoliosis, Trian... OMIM:618578
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... OMIM:175700
Congenital Myopathy 4A, Autosomal Dominant
Long face, Narrow face, Lumbar hyperlordosis, Congenital hip dislocation, Facial palsy, Limb join... OMIM:255310
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Thoracic scoliosis, Flat face, Short neck OMIM:616994
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu... ORPHA:86812
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... OMIM:160150
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Telecanthus, Camptodactyly of finger, Facial asymmetry, Tapered finger, Fa... ORPHA:1236
Beta-Thalassemia Major
Bowing of the long bones, Hypoplasia of the musculature, Malar prominence, High-output congestive... ORPHA:231214
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Round face, Abnormal intervertebral disk morphology, Micrognathi... ORPHA:2062
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Epicanthus, Hypoplastic iliac wing, Small hand, Retrognathia, Short fo... OMIM:235510
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Long face, Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Achilles tendon... ORPHA:353
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Thoracic scoliosis, Right axis deviation, Muscle fiber hyaline bodies, ... OMIM:255160
Grant Syndrome
Large face, Bowing of the long bones, Micrognathia, Abnormal pelvic girdle bone morphology, Abnor... ORPHA:2097
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Long face, Epicanthus, Toe syndactyly, Tricuspid regurgitation, Camptodactyly ... ORPHA:261211
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Ptosis, Facial palsy, Micrognathia, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively sm... OMIM:300580
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Amyotrophy of... ORPHA:90103
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology... ORPHA:1842
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral morphology, Vert... ORPHA:93315
20Q11.2 Microduplication Syndrome
Epicanthus, Sacral dimple, Palpebral edema, Coarse facial features, Short foot, Deep palmar creas... ORPHA:363659
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... OMIM:616852
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Skeletal muscle atrophy, Thoracic scoliosis, Narrow face, Death in infancy... OMIM:620278
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Long face, Skeletal muscle atrophy, Narrow face, Facial palsy, Flexion contracture, Knee flexion ... OMIM:616313
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... OMIM:618484
Trisomy 12P
Epicanthus, Micrognathia, Short neck, Large hands, Clinodactyly of the 5th finger, Malar flatteni... ORPHA:1699
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Kyphosc... OMIM:614815
Myopathy, Centronuclear, 2
Long face, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fib... OMIM:255200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Epicanthus, Polydactyly, Intrauterine growth retardation, Flat face, Hypoplastic ischia OMIM:616910
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Single transverse palmar crease, Proximal placement of thumb, Limited elbow moveme... OMIM:610759
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epicanthus, Ulnar deviation of the hand, Round face, Single transverse palmar crease, Rocker bott... OMIM:214100
Acrofacial Dysostosis, Weyers Type
Postaxial hand polydactyly, Small hand, Facial cleft, Advanced eruption of teeth, Clinodactyly of... ORPHA:952
Frontofacionasal Dysplasia
Encephalocele, Telecanthus, Blepharophimosis, Upper eyelid coloboma, Facial cleft, Limbal dermoid... ORPHA:1791
Peroxisome Biogenesis Disorder 5A (Zellweger)
Single transverse palmar crease, Micrognathia, Agenesis of corpus callosum, Death in infancy, Tri... OMIM:614866
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Micrognathia, Type 2 muscle fiber atrophy, Scoliosis, Weakness of facial musculatur... OMIM:608930
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Facial palsy, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Muscle Filaminopathy
Back pain, Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dys... ORPHA:171445
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Round face, Coxa valga, Genu valgum, Short phalanx of finger, Flat face, Br... OMIM:132450
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Shallow orbits, Spina bifida occulta, Hypoplastic cervical v... OMIM:150250
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Spinal rigidity, Hyperlordosis, Nemaline bodies, Dilated cardiomyopathy, Limb muscl... OMIM:161800
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Agenesis of corpus ca... OMIM:617127
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... ORPHA:2912
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Postaxial polydactyly, Micrognathia, Hyperlordosis, Kyphosis, Synophry... OMIM:615761
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Epicanthus, Camptodactyly, Blepharophimosis, Abnormal facial shape, Flat face OMIM:616006
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... OMIM:170390
Blepharocheilodontic Syndrome 2
Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, Euryblepharon, Distichiasis, Fla... OMIM:617681
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Fountain Syndrome
Long face, Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Ptosis, Ep... ORPHA:3219
3Mc Syndrome 3
Sacral dimple, Diastasis recti, Highly arched eyebrow, Epicanthus inversus, Preaxial polydactyly,... OMIM:248340
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Single transverse palmar crease, Spina bif... ORPHA:2437
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, D... OMIM:620265
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... OMIM:609285
Distal Deletion 12Q
Telecanthus, Coarse facial features, Broad hallux, Single transverse palmar crease, Overlapping t... ORPHA:96149
Arthrogryposis, Distal, Type 5
Epicanthus, Decreased muscle mass, Arachnodactyly, Decreased palmar creases, Limited wrist extens... OMIM:108145
Mulchandani-Bhoj-Conlin Syndrome
Epicanthus, Hyperlordosis, 2-3 toe syndactyly, Scoliosis, Intrauterine growth retardation, Clinod... OMIM:617352
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Coarse facial features, Single transverse palmar crease, Pers... OMIM:610253
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Round face, Micrognathia, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpebra... OMIM:602562
Short-Rib Thoracic Dysplasia 12
Natal tooth, Epicanthus, Hypoplastic scapulae, Bowing of the legs, Short neck, Hydrocephalus, Sho... OMIM:269860
Cebalid Syndrome
Congenital diaphragmatic hernia, Highly arched eyebrow, Downslanted palpebral fissures, Flat face... OMIM:618774
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, ... OMIM:619636
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal s... ORPHA:2345
Oculopharyngodistal Myopathy 2
Ptosis, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Wea... OMIM:618940
Cerebrooculonasal Syndrome
Large face, Epicanthus, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Facial clef... ORPHA:66625
Zellweger Syndrome
Death in infancy, Epicanthus, Micrognathia, Wide anterior fontanel, Upslanted palpebral fissure, ... ORPHA:912
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Narrow face, Internally nucleated skeletal muscle fibers, Tibialis anter... ORPHA:98905
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Proximal upper limb amyotr... OMIM:601954
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Single transverse palmar crease, Short neck, Kyphosis, Flexion contracture, Abnormality of the pa... ORPHA:178148
Osteogenesis Imperfecta, Type Iii
Triangular face, Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphosis, Tibial bowi... OMIM:259420
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Wrist swelling, Hypop... OMIM:166300
Contractural Arachnodactyly, Congenital
Micrognathia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly, Ul... OMIM:121050
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypoplastic ilia, Flared metaphys... OMIM:615349
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Hydrocephalus, Upslanted palpebral fissure, Flat face OMIM:300558
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc... ORPHA:169186
Joubert Syndrome 15
Exencephaly OMIM:614464
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Mandibular prognathia, Coarse facial features, Facial shape deformat... ORPHA:309282
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Micrognathia, Scoliosis, Intrauterine growth retardation, Joint contract... OMIM:615419
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Short face, Abnormal dental enamel morphology, Micrognathia, Hy... ORPHA:861
Larsen Syndrome
Finger syndactyly, Accessory carpal bones, Vertebral segmentation defect, Flat face, Abnormal epi... ORPHA:503
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur... ORPHA:98863
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Short neck, Micrognathia, Upslanted palpebral fissure, Flat face, Clinodactyly of the 5th finger,... ORPHA:2001
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Syn... OMIM:213980
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Kyphoscoli... ORPHA:1145
Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98853
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Shoulder flexion cont... OMIM:617114
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy, Myelomeningocele OMIM:235000
Nicolaides-Baraitser Syndrome
Short palm, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal finger morphology, Clubb... ORPHA:3051
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... ORPHA:353327
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Skeletal muscle atrophy, Triangular face, Arachnodactyly, Kyphoscoliosis, Wide... OMIM:614856
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Round face, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Fle... OMIM:254090
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Craniofacial hyperostosis, Facial palsy, Facial asymmetry, Hyperlordosis... ORPHA:3068
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Spinal rigidity, Angulated muscle fibers, Muscular dy... OMIM:617066
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Short neck, Flexion contracture, Long eyelashes, Scoliosis, Increased variability in muscle fiber... OMIM:619026
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... ORPHA:93320
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Talipes cavus equinovarus, Dilated cardiomyopathy, Abnormality of the ca... ORPHA:59135
Down Syndrome
Epicanthus, Sandal gap, Bilateral single transverse palmar creases, Short neck, Upslanted palpebr... ORPHA:870
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr... OMIM:620246
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... ORPHA:2496
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ... OMIM:603034
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98855
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Coarse facial features, Short neck, Metatarsus addu... ORPHA:584
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Hypoplastic ischia, Increased vertebral heigh... ORPHA:2616
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Rocker bottom foot, Tapered finger, Finger clinodactyly, Shallow orbits, Long eyelashes, Scoliosi... OMIM:601353
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, M... ORPHA:140
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Epicanthus, Sacral dimple, Broad hallux, Overlapp... ORPHA:435638
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... ORPHA:64754
Chromosome 17P13.1 Deletion Syndrome
Proximal placement of thumb, Short neck, Synophrys, Knee flexion contracture, Generalized amyotro... OMIM:613776
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Skeletal muscle atrophy, Decreased muscle mass, Long face, Facial palsy, D... OMIM:608931
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... OMIM:253700
Icf Syndrome
Communicating hydrocephalus, Epicanthus, Micrognathia, Macroglossia, Umbilical hernia, Flat face ORPHA:2268
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Intrinsic hand muscle atrophy,... ORPHA:276435
Walker-Warburg Syndrome
Skeletal muscle atrophy, Hydrocephalus, Muscular dystrophy, Metatarsus valgus, Aplasia/Hypoplasia... ORPHA:899
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Centrally nucleated skeletal muscle fibers, Bil... OMIM:619542
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Epicanthus, Sinusitis, Micrognathia, Macroglossia, Malar flattening, Flat face OMIM:242860
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Triangular face, Arachnodactyly, Micrognathia, Short neck, Small hand, Elbow fle... ORPHA:371364
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Triangular face, Vertebral wedging, Abnormal pelvic gird... OMIM:610967
Central Core Disease
Multiple joint contractures, Congenital hip dislocation, Kyphoscoliosis, Myopathy, Talipes equino... ORPHA:597
Robinow-Sorauf Syndrome
Hallux valgus, Broad hallux, Malar flattening, Bilateral ptosis, Flat face, Shallow orbits, Dupli... OMIM:180750
Lethal Congenital Contracture Syndrome 9
Micrognathia, Flexion contracture, Congenital contracture, Muscle fiber atrophy, Intrauterine gro... OMIM:616503
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Facial palsy, Abnormal muscl... ORPHA:171881
Aymé-Gripp Syndrome
Pericarditis, Asymmetric crying face, Rocker bottom foot, Congenital diaphragmatic hernia, Tapere... ORPHA:1272
Myoectodermal Gonadal Dysgenesis Syndrome
Epicanthus, Single transverse palmar crease, Highly arched eyebrow, Bifid distal phalanx of the t... OMIM:618419
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculatu... OMIM:617069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... OMIM:618138
Pelvis-Shoulder Dysplasia
Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of th... ORPHA:2839
Monosomy 22
Finger syndactyly, Epicanthus, Single transverse palmar crease, Short neck, Synophrys, Clubbing, ... ORPHA:96123
Skin Creases, Congenital Symmetric Circumferential, 1
Epicanthus, Micrognathia, Short neck, Long fingers, Upslanted palpebral fissure, Blepharophimosis... OMIM:156610
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Epicanthus, Round face, Abnormality of the hand, Short neck, U... ORPHA:369891
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb... OMIM:607323
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Triangular face, Broad hallux, Arachnodactyly, ... ORPHA:481152
Distal Duplication 18Q
Round face, Arachnodactyly, Camptodactyly of finger, Micrognathia, Carious teeth, Short neck, Pro... ORPHA:1716
Mucolipidosis Type Ii
Knee flexion contracture, Abnormal long bone morphology, Shallow orbits, Telangiectases of the ch... ORPHA:576
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Long toe, Bowing of the long bones, Arachnodactyly, Single transverse palmar crease, Phalangeal d... OMIM:130070
Chromosome 3Pter-P25 Deletion Syndrome
Epicanthus, Sacral dimple, Overlapping toe, Postaxial polydactyly, Micrognathia, Tapered finger, ... OMIM:613792
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... OMIM:615084
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
20P13 Microdeletion Syndrome
Finger syndactyly, Telecanthus, Highly arched eyebrow, Wide anterior fontanel, Synophrys, Narrow ... ORPHA:313781
Congenital Myopathy 14
Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Increased vari... OMIM:618414
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal th... ORPHA:1120
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Round face, Almond-shaped palpebral fissure, Epiblepharon, Partial agenesi... OMIM:619103
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Congestive heart failure, Reduced left ventricular ejection fraction, Death in ... OMIM:614096
Legius Syndrome
Epicanthus, Short neck, Micrognathia, Supravalvar pulmonary stenosis, Downslanted palpebral fissu... OMIM:611431
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Intrinsic hand muscle atrophy, ... OMIM:614321
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... OMIM:173800
Alazami Syndrome
Narrow palpebral fissure, Scoliosis, Malar flattening, Triangular face, Short palpebral fissure OMIM:615071
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... OMIM:620249
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Gm1-Gangliosidosis, Type Ii
Coarse facial features, Coxa valga, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Platysp... OMIM:230600
Menke-Hennekam Syndrome 1
Micrognathia, Flexion contracture, Cutaneous syndactyly of toes, Clinodactyly of the 5th finger, ... OMIM:618332
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Mandibular prognathia, Telecanthus, Abnormality of the cervical... ORPHA:1299
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Microretrognathia, Epicanthus, Multiple pterygia, Talipes equinovarus, Malar flattening, Pterygiu... OMIM:177980
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Cardiomyopathy, ... ORPHA:399086
Hogue-Janssen Syndrome 2
Broad hallux, Facial hypotonia, Postaxial polydactyly, Hydrocephalus, Agenesis of corpus callosum... OMIM:616362
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short neck, Lumbar hemivertebrae, Talipes equinovarus, Neonatal death, Clinodactyly of the 5th fi... OMIM:619859
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... OMIM:607855
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S... OMIM:617072
17P11.2 Microduplication Syndrome
Downslanted palpebral fissures, Triangular face, Scoliosis, Micrognathia ORPHA:1713
Ring Chromosome 7 Syndrome
Mandibular prognathia, Unilateral ptosis, Epicanthus, Single transverse palmar crease, Highly arc... ORPHA:1449
Trisomy 20P
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Vertebral segmentation defect, A... ORPHA:261318
Chromosome 15Q26-Qter Deletion Syndrome
Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Blepharophimosis, Intrauterine... OMIM:612626
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Avascular necrosis of ... ORPHA:77258
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Flexion contracture, I... OMIM:602771
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy, Ptosis OMIM:609283
Omodysplasia 1
Short humerus, Epicanthus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia... OMIM:258315
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Cl... ORPHA:96148
15Q24 Microdeletion Syndrome
Long face, Epicanthus, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thu... ORPHA:94065
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Constricting Bands, Congenital
Encephalocele, Syndactyly, Facial cleft, Eyelid coloboma, Hand polydactyly, Talipes equinovarus, ... OMIM:217100
Simosa Craniofacial Syndrome
Telecanthus, Highly arched eyebrow, Sparse eyebrow, Blepharophimosis, Malar flattening, Flat face... OMIM:182150
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Epicanthus, Facial hypotonia, Tapered finger, Short neck, Scoliosis, Intrauterin... OMIM:616801
Wiedemann-Steiner Syndrome
Epicanthus, Telecanthus, Rhizomelia, Thick eyebrow, Abnormality of the hand, Tapered finger, Sacr... ORPHA:319182
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Limb mu... ORPHA:486815
Kbg Syndrome
Vertebral fusion, Telecanthus, Round face, Single transverse palmar crease, Short neck, Synophrys... ORPHA:2332
Three M Syndrome 2
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Den... OMIM:612921
Meckel Syndrome, Type 10
Occipital encephalocele, Epicanthus, Ulnar deviation of the hand, Sacral dimple, Postaxial polyda... OMIM:614175
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Palmoplantar hyperkeratosis, Motheaten muscle fibers, Muscular dystrophy, Increase... OMIM:226670
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Bilateral ptosis, Ragged-red muscle fibers, Increased vari... OMIM:258450
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha... OMIM:620285
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Combined Oxidative Phosphorylation Deficiency 31
Micrognathia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increase... OMIM:617228
Andersen-Tawil Syndrome
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Prominent U wave, Abnormal ... ORPHA:37553
Genitourinary And/Or Brain Malformation Syndrome
Long face, Syndactyly, Epicanthus, Kyphoscoliosis, Micrognathia, Dysplastic corpus callosum, Upsl... OMIM:618820
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Ptosis OMIM:617070
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... OMIM:613157
Skin Creases, Congenital Symmetric Circumferential, 2
Long face, Epicanthus, Tapered finger, Micrognathia, Long fingers, Carious teeth, Synophrys, Blep... OMIM:616734
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Card... OMIM:612999
Stickler Syndrome, Type Iv
Epiphyseal dysplasia, Flat capital femoral epiphysis, Genu valgum, Irregular capital femoral epip... OMIM:614134
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Hypertension, Arrhythmia, Death in childhood, Neonatal death, Umbilical hernia... OMIM:614052
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis, Downslanted palpebral fissures, Postaxial pol... OMIM:612913
Distal Duplication 5Q
Hypoplasia of the ulna, Epicanthus, Micrognathia, Absent thumb, Carious teeth, Hypoplasia of the ... ORPHA:96097
Menke-Hennekam Syndrome 2
Epicanthus, Square face, Sandal gap, Overlapping toe, Micrognathia, Upslanted palpebral fissure, ... OMIM:618333
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Single transverse palmar crease, Sparse eyebrow, Synophrys, 2-3 toe syndactyly, Upsla... OMIM:620098
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Dilated card... ORPHA:352447
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers, Th... ORPHA:480
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Facial palsy, Weakness of the intrinsic hand mu... ORPHA:98913
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Congenital hip dislocation, Decreased muscle mass, Hydrocephalus, Agene... OMIM:612940
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Fatty replacement of skeletal muscle, Congestive heart failure, Abnormal long bone... ORPHA:52430
Al Kaissi Syndrome
Epicanthus, Telecanthus, Sacral dimple, Torticollis, Synophrys, Small hand, Hemivertebrae, Deep p... OMIM:617694
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Short neck, Flattened epiphysis, Genu valgum, Abnormal faci... OMIM:607131
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies,... ORPHA:73230
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital d... ORPHA:2311
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Kyphoscoliosis, Postaxial hand polydactyly, Preaxi... ORPHA:65759
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Hydrocephalus, Knee... OMIM:603387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Congenital hip dislocation, Facial asymmetry, Wide anterior font... ORPHA:457279
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Wildervanck Syndrome
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Facial asymmetry ORPHA:3456
Chromosome 10Q26 Deletion Syndrome
Scapular winging, Congenital hip dislocation, Toe syndactyly, Single transverse palmar crease, Sa... OMIM:609625
Multiple Sulfatase Deficiency
Coarse facial features, Broad hallux, Hydrocephalus, Hypoplastic vertebral bodies, Broad thumb, F... OMIM:272200
Vitamin K Antagonist Embryofetopathy
Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Epiphyseal stippl... ORPHA:1914
Congenital Disorder Of Glycosylation, Type Ii
Upslanted palpebral fissure, Epicanthus, Flat face OMIM:607906
Al-Raqad Syndrome
Sandal gap, Flat face, Brachydactyly OMIM:616459
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... OMIM:265000
Orofaciodigital Syndrome Xvii
Short neck, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central... OMIM:617926
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, Ptosis OMIM:610542
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar... OMIM:161200
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Down-sloping shoulders, Single transverse palma... OMIM:616200
Phaver Syndrome
Broad hallux phalanx, Epicanthus, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnorma... ORPHA:2876
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Enamel hypoplasia, Retrognathia OMIM:617915
Marshall Syndrome
Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Sparse eyebrow, Hypoplastic frontal si... ORPHA:560
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Coxa valga, Centrally nucleated skeletal muscle fibers... OMIM:248800
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Mi... OMIM:617866
Myopathy, Distal, 3
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening, Clinodactyly OMIM:615984
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Absent eyebrow, Absent eyelashes, Myelomeningocel... OMIM:219000
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Polydactyly, ... OMIM:169400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Micrognathia, Dilated cardiomyopathy... OMIM:615959
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Diastasis recti, Upper limb asymmetry, Polydactyly, Clinodactyly of the 5th finger, Triangular face ORPHA:231140
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Lateral ventricle dilatation, Increased variability in muscle fiber diameter, Long face OMIM:616816
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Micrognathia, Highly arched eyebrow, Preaxial polydactyly... OMIM:618142
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... OMIM:211960
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Torticollis, Micrognathia, Short neck, Increased variability in muscle fiber ... OMIM:617022
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Micrognathia, Synophrys, Scoliosis, Clinodactyly of the 5th finger, Intr... ORPHA:94063
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Coarse facial features, Down-sloping shoulders, Spina bi... OMIM:109400
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Epicanthus, Narrow face, Malar flattening, Micrognathia, Short neck, H... ORPHA:2789
Down Syndrome
Epicanthus, Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Atlantoaxial ins... OMIM:190685
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Bruck Syndrome
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis, Arthrogryposis... ORPHA:2771
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Native American Myopathy
Skeletal muscle atrophy, Micrognathia, Bilateral ptosis, Abnormality of skeletal muscle fiber siz... ORPHA:168572
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Lateral Meningocele Syndrome
Vertebral fusion, Telecanthus, Decreased muscle mass, Malar flattening, Micrognathia, Short neck,... OMIM:130720
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Epicanthus, Telecanthus, Flexion contracture, Macroglossia, Talipes equinovarus... ORPHA:847
Potocki-Lupski Syndrome
Mandibular prognathia, Micrognathia, Dental malocclusion, Scoliosis, Downslanted palpebral fissur... OMIM:610883
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinod... OMIM:619721
Waardenburg Syndrome Type 1
Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Spina bifida, Synophrys, Meni... ORPHA:894
Ayme-Gripp Syndrome
Mandibular prognathia, Ptosis, Pericarditis, Tapered finger, Upslanted palpebral fissure, Radioul... OMIM:601088
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers, Scoliosis OMIM:618416
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Unilateral ptosis, Thoracic scoliosis, Micrognathia, Short neck, Thoracic ... ORPHA:508498
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Otosclerosis, Thick eyebrow, Triangular face, Micrognathia, Short neck, Sy... ORPHA:529962
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Long fingers, Hydrocep... OMIM:616914
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocation, Colpocephaly... OMIM:618651
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... OMIM:603511
Short Stature, Dauber-Argente Type
Long toe, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long fingers, Tr... OMIM:619489
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Micrognathia, Highly arched eyebrow, Bilateral ptosis, Kyphosis, 2-3 toe s... ORPHA:404440
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Epicant... ORPHA:1908
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Type 1 fibers relativ... ORPHA:596
Orofaciodigital Syndrome Xviii
Square face, Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydac... OMIM:617927
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Scoliosis, Lower lim... ORPHA:99013
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Epicanthus, Lacrimal duct stenosis, Coarse facial feature... OMIM:619745
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Arachnodactyly, Prominent eyelashes, Upslanted palpebral fissure, Malar ... OMIM:616420
Peroxisome Biogenesis Disorder 3B
Malar flattening, Abnormal facial shape, Flat face, Single transverse palmar crease OMIM:266510
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Myasthenic Syndrome, Congenital, 19
Facial palsy, Spinal rigidity, Micrognathia, Increased variability in muscle fiber diameter, Retr... OMIM:616720
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... OMIM:616470
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Hyperlordosis, Micrognathia, Ragged-red muscle fibers, Generalized limb muscle ... OMIM:600462
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Joubert Syndrome 7
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Scoliosis, Ptosis OMIM:611560
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Carey-Fineman-Ziter Syndrome
Ptosis, Epicanthus, Skeletal muscle atrophy, Facial palsy, Micrognathia, Aplasia of the pectorali... ORPHA:1358
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Alazami Syndrome
Sparse eyebrow, Abnormality of the orbital region, Slender long bone, Narrow palpebral fissure, S... ORPHA:319671
Congenital Myasthenic Syndrome
Microretrognathia, Neuropathic spinal arthropathy, Muscle fiber atrophy, Congenital hip dislocati... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Neuropathic spinal arthropathy, Muscle fiber atrophy, Congenital hip dislocati... ORPHA:98914
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Short neck, Hyperlordosis, Nasolacrimal duct obstruction, Abnormal form of the vertebral bodies, ... ORPHA:3218
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Preaxial hand polydactyly,... ORPHA:2211
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Telecanthus, Camptodactyly of finger, Micrognathia, Wrist swelling, Slender long bone, Metacarpal... ORPHA:2774
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Facial palsy, Limited wrist ext... ORPHA:98915
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, Death in... OMIM:609560
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Ragged-red muscle fibers OMIM:616794
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement... ORPHA:329478
Frontonasal Dysplasia 2
Encephalocele, Telecanthus, Tessier number 13 facial cleft, Sparse eyelashes, Sparse eyebrow, Ups... OMIM:613451
Suleiman-El-Hattab Syndrome
Microretrognathia, Epicanthus, Single transverse palmar crease, Highly arched eyebrow, Synophrys,... OMIM:618950
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Cardiom... ORPHA:254886
Craniofacial-Deafness-Hand Syndrome
Telecanthus, Ulnar deviation of the hand, Hypoplasia of the maxilla, Malar flattening, Downslante... OMIM:122880
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital finger flexion con... ORPHA:1154
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Triploidy
Finger syndactyly, Micrognathia, Short neck, Hydrocephalus, Meningocele, Macroglossia, Holoprosen... ORPHA:3376
Cole-Carpenter Syndrome 2
Microretrognathia, Triangular face, Kyphosis, Hydrocephalus, Platyspondyly, Narrow iliac wing, Do... OMIM:616294
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... OMIM:310300
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hy... OMIM:180849
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Carious teeth, S... OMIM:617102
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Umbilical hernia, Intraut... ORPHA:231144
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Areflexia of upper limbs, Intrinsic h... OMIM:619574
Holoprosencephaly 7
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hydrocephalus, Synophrys, Partial agenesi... OMIM:610828
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Arthrogryposis Multiplex Congenita 6
Death in infancy, Death in childhood, Neonatal death, Increased variability in muscle fiber diame... OMIM:619334
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Broad eyebrow, Ulnar deviation of the hand, Proximal placement of ... OMIM:620113
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Round face, Short neck, Upslanted palpebral fissure, Macroglossia, Talipes equinovarus, Clinodact... OMIM:616789
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Abnormal facial shape, Cardiomyopathy OMIM:613752
Au-Kline Syndrome
Long face, Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Postaxial polydactyly, Coxa v... OMIM:616580
Silver-Russell Syndrome
Decreased muscle mass, Sandal gap, Micrognathia, Upper limb asymmetry, Abnormal appendicular skel... ORPHA:813
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Cardiomyopathy, Increased variability in muscle fiber... ORPHA:401768
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Proximal muscle weakness in low... OMIM:613954
Neu-Laxova Syndrome 2
Finger syndactyly, Ablepharon, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Sh... OMIM:616038
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Short femur, Micrognathia, Short neck, Synophrys, Talipes equinovarus,... OMIM:300990
20Q13.33 Microdeletion Syndrome
Hallux valgus, Epicanthus, Sacral dimple, Facial hypotonia, Triangular face, Highly arched eyebro... ORPHA:261311
Familial Partial Lipodystrophy, Dunnigan Type
Round face, Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle ... ORPHA:2348
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Micromelia, Micrognathia, ... OMIM:613848
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Epicanthus, Highly arched eyebrow, Persistence of primary teeth, Micrognathia, Retrognathia, Down... OMIM:618342
Congenital Myopathy 15
Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variability in muscle fi... OMIM:620161
Myopathy, Mitochondrial, And Ataxia
Mandibular prognathia, Micrognathia, Distal amyotrophy, Scoliosis, Increased variability in muscl... OMIM:617675
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Triangular face, Micrognathia ORPHA:939
Spondylometaphyseal Dysplasia, Pagnamenta Type
Triangular face, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacarp... OMIM:619638
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Epicanthus, Wide anterior fontanel, Hydrocephalus, Triangular face OMIM:614886
Partington Syndrome
Flexion contracture, Triangular face, Camptodactyly OMIM:309510
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Unilateral ptosis, Congenital diaphragmatic hernia, Synophrys, Broad hallux, Highly arched eyebro... OMIM:301044
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Spinal rigidity, Hydrocephalus, Skeletal muscle hypertrophy, Mac... OMIM:613150
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Ptosis ORPHA:330054
Insulin-Like Growth Factor I, Resistance To
Sandal gap, Highly arched eyebrow, Micrognathia, Synophrys, Small hand, Short foot, Upslanted pal... OMIM:270450
Helsmoortel-Van Der Aa Syndrome
Ectropion of lower eyelids, Eyelid coloboma, Short 4th toe, Clinodactyly of the 5th finger, Promi... OMIM:615873
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific... OMIM:210710
Osteogenesis Imperfecta, Type Xi
Triangular face, Protrusio acetabuli, Kyphoscoliosis, Coxa vara, Vertebral wedging, Scoliosis, Bi... OMIM:610968
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... OMIM:614302
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Micrognathia, Increased variability in muscle fiber diameter, Increased muscle glycogen content, ... ORPHA:502423
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy, Ptosis OMIM:613561
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Short neck, Polydactyly, Talipes equinovarus OMIM:613885
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Proximal placement of thumb, Micrognathia, Kyphosis, Dilated cardiomyopath... ORPHA:261250
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, ... OMIM:108720
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter, Ptosis OMIM:125250
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Silver-Russell Syndrome 3
Syndactyly, Elbow contracture, Small hand, Antecubital pterygium, Clinodactyly of the 5th finger,... OMIM:616489
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Branchial fistula, Epicanthus, Toe syndactyly, Palpebral edema, Camptodact... ORPHA:261337
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Micrognathia, Short 5th finger, Polydactyly, Small placenta, Ectrodactyly, Clinodacty... ORPHA:397590
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Congenital diaphragma... ORPHA:63259
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, S... ORPHA:2092
Marshall-Smith Syndrome
Thoracic scoliosis, Synophrys, Distal widening of metacarpals, Coxa vara, Thoracic kyphosis, Shal... OMIM:602535
Silver-Russell Syndrome 2
Micrognathia, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Intrauterine growth retardation... OMIM:618905
Congenital Myopathy 17
Mandibular prognathia, Telecanthus, Diaphragmatic eventration, Overlapping toe, Tapered finger, D... OMIM:618975
Sotos Syndrome
Mandibular prognathia, Narrow face, Sparse eyebrow, Partial agenesis of the corpus callosum, Long... OMIM:117550
Ohdo Syndrome, X-Linked
Long face, Epicanthus, Ulnar deviation of the hand, Overlapping toe, Coarse facial features, Micr... OMIM:300895
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Spinal muscular atrophy, Congestive heart failure, Flexion contracture, Increa... OMIM:616866
Peroxisome Biogenesis Disorder 11A (Zellweger)
Large face, Wide anterior fontanel, Triangular face OMIM:614883
Mulibrey Nanism
Triangular face, Single transverse palmar crease, Absent frontal sinuses, Congestive heart failur... OMIM:253250
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the abdominal wall musculature, Synophrys, Neo... OMIM:612289
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Epicanthus, Abnormal acetabulum morphology, Small cervical vertebral bod... ORPHA:397715
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Epicanthus, Hydrocephalus, Polydactyly, Downslanted palpebral fissures OMIM:602501
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
X-Linked Mandibulofacial Dysostosis
Epicanthus, Facial asymmetry, Micrognathia, Branchial anomaly, Hypoplasia of the zygomatic bone, ... ORPHA:1131
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, Synostosis of carpal bones... ORPHA:221120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Epicanthus, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossificatio... ORPHA:93271
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Upslanted palpebral fissure, Synophrys, Flat face OMIM:618154
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Ptosis OMIM:617235
Short Stature, Brussels Type
Microretrognathia, Delayed epiphyseal ossification, Abnormal facial shape, Triangular face ORPHA:2867
Caudal Duplication
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Vertebral segmentation ... ORPHA:1756
Joubert Syndrome 14
Encephalocele, Epicanthus, Highly arched eyebrow, Postaxial polydactyly, Hydrocephalus, Meningoce... OMIM:614424
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Trisomy 18
Microretrognathia, Epicanthus, Narrow face, Camptodactyly of finger, Spina bifida, Congenital dia... ORPHA:3380
Transaldolase Deficiency
Short neck, Wide anterior fontanel, Synophrys, Telangiectasia, Intrauterine growth retardation, T... OMIM:606003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Distal Deletion 3P
Epicanthus, Telecanthus, Sacral dimple, Micrognathia, Blepharophimosis, Short neck, Postaxial han... ORPHA:1620
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Epicanthus, Camptodactyly of finger, Supernumerary ... ORPHA:2136
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Three M Syndrome 3
Short neck, Hyperlordosis, Increased vertebral height, Slender long bone, Hip dysplasia, Clinodac... OMIM:614205
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Mandibular prognathia, Lumbar hyperlordosis, Arachnodactyly, Facial ... ORPHA:457359
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
Blepharophimosis, Coarse facial features, Triangular face ORPHA:293707
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Overlapping toe, Highly arched eyebrow, Long fingers, Synophrys, Cutaneous syndactyly, ... OMIM:618316
Monosomy 9Q22.3
Delayed eruption of teeth, Epicanthus, Rhabdomyosarcoma, Short neck, Palmar pits, Kyphosis, Hydro... ORPHA:77301
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Bilateral ptosis, Ragged-red muscle fibers, Right bundle branch block, L... OMIM:616479
Chromosome 17Q12 Duplication Syndrome
Triangular face, Facial hypotonia, Micrognathia, Downslanted palpebral fissures, Broad thumb, Bra... OMIM:614526
Ophthalmoplegia, External, And Myopia
Spina bifida, Ptosis OMIM:311000
Kbg Syndrome
Syndactyly, Telecanthus, Vertebral fusion, Round face, Single transverse palmar crease, Short nec... OMIM:148050
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
9Q21.13 Microdeletion Syndrome
Vertebral segmentation defect, Hip dysplasia, Polydactyly, Scoliosis, Long palpebral fissure, Ptosis ORPHA:531151
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Scapular winging, Myocardial infarction, Aplasia/Hypoplasia of the abdominal... ORPHA:500
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Mi... OMIM:277170
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Tricuspid regur... OMIM:619879
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Micrognathia OMIM:620240
Chopra-Amiel-Gordon Syndrome
Almond-shaped palpebral fissure, Upslanted palpebral fissure, Triangular face, Scoliosis OMIM:619504
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Eyelid coloboma, Agenesis of corpus callosum, ... ORPHA:2308
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Decreased muscle mass, Micrognathia, Abnormal facia... ORPHA:96182
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Epicanthus, Coarse facial features, Symphalangism affecting the phalanges of the hand, Short dist... ORPHA:1292
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Mandibular prognathia, Arachnodactyly, Hyperlordosis, Sparse eyebrow... OMIM:617011
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Joubert Syndrome 10
Epicanthus, Downslanted palpebral fissures, Postaxial polydactyly OMIM:300804
Atelis Syndrome 2
Epicanthus, Sacral dimple, Single transverse palmar crease, Micrognathia, Kyphosis, Supravalvar p... OMIM:620185
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Paganini-Miozzo Syndrome
Mandibular prognathia, Lateral ventricle dilatation, Malar flattening, Downslanted palpebral fiss... OMIM:301025
Intellectual Developmental Disorder With Neuropsychiatric Features
Downslanted palpebral fissures, Triangular face, Highly arched eyebrow OMIM:617532
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Long face, Short long bone, Scoliosis, Short palm, Arrhythmia, Intrauterine growth retardation, E... OMIM:619184
Benign Samaritan Congenital Myopathy
Epicanthus, Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
15q26 overgrowth syndrome
Long toe, Mandibular prognathia, Long face, Arachnodactyly, Camptodactyly of finger, Facial asymm... DECIPHER:81
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Scoliosis, Centrally nucleated skele... OMIM:619518
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Silver-Russell Syndrome 1
Syndactyly, Micrognathia, Craniofacial disproportion, Short distal phalanx of the 5th finger, Cli... OMIM:180860
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Long face, Ptosis, Skeletal muscle atrophy, Overlapping toe, Tapered finger, Micrognathia, Epican... OMIM:309590
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Clinodactyly of the 5th finger, Intrauterine growth retardation, Triangular face, Facial asymmetry ORPHA:231147
Nizon-Isidor Syndrome
Unilateral ptosis, Sparse eyebrow, Long fingers, Thoracolumbar kyphosis, Upper eyelid edema, Agen... OMIM:618872
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... ORPHA:169189
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Micrognathia, Upslanted palpebral fissure, S... ORPHA:2135
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Lateral ventr... OMIM:619479
Fanconi Anemia, Complementation Group I
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Agenes... OMIM:609053
Leopard Syndrome 1
Mandibular prognathia, Bundle branch block, Scapular winging, Epicanthus, Limited elbow movement,... OMIM:151100
Mend Syndrome
Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Long fingers, Hydr... OMIM:300960
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Short neck, Calcaneovalgus deformity, Neonatal death, Pterygium, Agenes... OMIM:256520
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo... ORPHA:666
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Trismus, Dental malocc... OMIM:227330
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Ptosis, Abnormal morphology of... ORPHA:570
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla... OMIM:311900
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Prominent fingertip pads, Upslanted palpebral fissure, Long eyelashes, Clinodactyly of the 5th fi... ORPHA:231137
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Transient ischemic attack, Ovoid vertebral bodies, Short neck, Hypertension... OMIM:242900
Khan-Khan-Katsanis Syndrome
Sacral dimple, Tricuspid regurgitation, Highly arched eyebrow, Trichiasis, Postaxial polydactyly,... OMIM:618460
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death, Retrognathia OMIM:300219
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Congestive heart failure... ORPHA:206569
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Cutaneous syndactyly of toes, Cuta... OMIM:225060
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers, Ptosis OMIM:610246
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Abnormality of the temporomandibular joint, Absent muscle fiber merosin, Facial palsy, ... ORPHA:258
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Facial asymmetry, Carious teeth, Hypoplasia of the zygomatic bone, Abnorma... ORPHA:1110
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly ORPHA:945
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Epicanthus, Telecanthus, Facial asymmetry, Carious teeth, Myelomen... OMIM:311200
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Coarse facial features, Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyl... OMIM:617527
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microretrognathia, Natal tooth, Coarse facial features, Rhizomelia, Postaxial poly... OMIM:616300
Waardenburg Syndrome, Type 1
Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Spina bifida, Myelomeningocel... OMIM:193500
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Epicanthus, Sacral dimple, Single transverse palmar crease, Micrognath... OMIM:247200
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Micromelia, Anencephaly ORPHA:63862
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Arachnodactyly, Kyphoscoliosis, Downslanted palpebral fissures, Triangular... ORPHA:397695
Lathosterolosis
Abnormal thoracic spine morphology, Epicanthus, Toe syndactyly, Micrognathia, Postaxial hand poly... ORPHA:46059
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Epicanthus, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Intrauterine g... OMIM:614576
Kinsship Syndrome
Mandibular prognathia, Death in infancy, Sacral dimple, Single transverse palmar crease, Coxa val... OMIM:619297
Nabais Sa-De Vries Syndrome, Type 2
Micrognathia, Sparse eyebrow, Tapered finger, Long palpebral fissure, Clinodactyly of the 5th fin... OMIM:618829
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly, Telecanthus OMIM:300484
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Single transverse palmar crease, Tapered finger, Oval face, Type 1 muscle fiber predominance, Inc... OMIM:612949
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, Ectropion of lower eyelids, Preaxial polydactyly, Co... OMIM:614976
Isolated Arrhinia
Facial cleft ORPHA:1134
Cerebrocostomandibular Syndrome
Death in infancy, Spina bifida, Micrognathia, Kyphosis, Myelomeningocele, Meningocele, Clinodacty... ORPHA:1393
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Long face, Coarse facial features, Postaxial polydactyly, Type 1 muscle fiber atrophy, Dental mal... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Long face, Coarse facial features, Postaxial polydactyly, Type 1 muscle fiber atrophy, Dental mal... ORPHA:352665
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy ORPHA:369840
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal facial shape, Triangular face, Postaxial polydactyly, Long face ORPHA:544254
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness... ORPHA:90658
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial po... OMIM:617925
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Epicanthus, Rhizomelia, Single transverse palmar crease, Micrognathia, Blep... OMIM:614114
Silver-Russell Syndrome 5
Intrauterine growth retardation, Triangular face OMIM:618908
Hallermann-Streiff Syndrome
Natal tooth, Sparse eyelashes, Spina bifida, Micrognathia, Abnormality of the hand, Sparse eyebro... OMIM:234100
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Arachnodactyly, Micrognathia, Type 1 muscle fiber atrophy, Type 2 muscle fiber ... OMIM:619036
Amish Lethal Microcephaly
Death in infancy, Spina bifida, Micrognathia, Agenesis of corpus callosum, Limb hypertonia ORPHA:99742
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Hypoplasia... ORPHA:3412
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Xq12-Q13.3 Duplication Syndrome
Epicanthus, 2-3 toe syndactyly, Cutaneous finger syndactyly, Generalized amyotrophy, Triangular face ORPHA:314389
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Flexion contracture, Generalized amyotrophy, Agenesis of corpus callosu... OMIM:264090
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Long face, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum... OMIM:614813
Orofaciodigital Syndrome Iv
Epicanthus, Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydacty... OMIM:258860
Witteveen-Kolk Syndrome
Narrow face, Proximal placement of thumb, Congenital diaphragmatic hernia, Intracranial hemorrhag... OMIM:613406
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Craniofacial Microsomia 1
Occipital encephalocele, Hemifacial hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hemivert... OMIM:164210
Cutis Laxa, Autosomal Recessive, Type Iid
Entropion, Kyphoscoliosis, Congestive heart failure, Hip dislocation, Right bundle branch block, ... OMIM:617403
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Ptosis ORPHA:663
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension, Hypertr... ORPHA:1349
Limb Body Wall Complex
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... ORPHA:2369
Distal 17P13.1 Microdeletion Syndrome
Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Hypoplasia of the zygomatic bon... ORPHA:319171
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Muscle fi... ORPHA:449285
Marfan Syndrome
Skeletal muscle atrophy, Narrow face, Arachnodactyly, Protrusio acetabuli, Limited elbow movement... ORPHA:558
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness, Agenesi... OMIM:207950
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Short nec... ORPHA:2879
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... ORPHA:79083
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... OMIM:609286
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Mullegama-Klein-Martinez Syndrome
Facial palsy, Curly eyelashes, Micrognathia, Congenital diaphragmatic hernia, Polydactyly, Scolio... OMIM:301022
Holoprosencephaly 1
Ethmocephaly, Facial cleft, Alobar holoprosencephaly OMIM:236100
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Death in infancy, Facial palsy, Left ventricular noncompaction cardiomyopathy, Cardiogenic shock,... OMIM:619424
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Epicanthus, Telecanthus, Sacral dimple, Single transverse ... OMIM:223370
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Trisomy 8Q
Camptodactyly of finger, Micrognathia, Short neck, Myelomeningocele, Upslanted palpebral fissure,... ORPHA:1752
Cranioectodermal Dysplasia 2
Unilateral ptosis, Syndactyly, Epicanthus, Telecanthus, Rhizomelia, Sparse eyelashes, Left ventri... OMIM:613610
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Nicolaides-Baraitser Syndrome
Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joints, Sparse media... OMIM:601358
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic kyphoscoliosis, Thoracic scoliosis, Decreased muscle mass, Congestive heart failure, Hip... ORPHA:1900
Marbach-Rustad Progeroid Syndrome
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Right bundle b... OMIM:619322
Fanconi Anemia
Micrognathia, Abnormal eyelid morphology, Abnormal femur morphology, Triphalangeal thumb, Clinoda... ORPHA:84
Noonan Syndrome
Brachydactyly, Micrognathia, Aplasia/Hypoplasia of the abdominal wall musculature, Radioulnar syn... ORPHA:648
Hypokalemic Periodic Paralysis
Impaired myocardial contractility, Increased intramyocellular lipid droplets, Abnormal muscle fib... ORPHA:681
Short Syndrome
Delayed eruption of teeth, Enlarged epiphyses, Telecanthus, Micrognathia, Dental malocclusion, Sl... OMIM:269880
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Epicanthus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes... OMIM:607143
Tolchin-Le Caignec Syndrome
Thick eyebrow, Arachnodactyly, Hooded eyelid, Diastasis recti, Micrognathia, Nasolacrimal duct ob... OMIM:618971
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy, Abnormal facial shape, Triangular face, Long face ORPHA:85329
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Vertebral segmentation defect, Narrow gre... OMIM:312870
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyop... OMIM:300257
Faciocardiomelic Syndrome
Ptosis, Telecanthus, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Slender l... OMIM:612731
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, Hyp... OMIM:615418
Arboleda-Tham Syndrome
Mandibular prognathia, Conjunctivitis, Sparse medial eyebrow, Genu varum, Microretrognathia, Long... OMIM:616268
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Muscle-Eye-Brain Disease
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Schinzel-Giedion Syndrome
Micrognathia, Short neck, Tibial bowing, Shallow orbits, Wide anterior fontanel, Scoliosis, Overl... ORPHA:798
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Agen... OMIM:616239
Slc39A8-Cdg
Elbow flexion contracture, Knee flexion contracture, Cutaneous syndactyly of toes, Limb undergrow... ORPHA:468699
Alg3-Cdg
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Neural tube defect, Ca... ORPHA:79321
Lymphangiectasia, Pulmonary, Congenital
Malar flattening, Palpebral edema, Flat face OMIM:265300
Meckel Syndrome, Type 1
Occipital encephalocele, Bowing of the long bones, Syndactyly, Natal tooth, Camptodactyly of fing... OMIM:249000
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Short neck, Moon facies, Prominent fingertip pads, Tapered finger, Hyperlo... OMIM:619950
Short Syndrome
Telecanthus, Abnormal dental enamel morphology, Abnormal zygomatic bone morphology, Abnormal mand... ORPHA:3163
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra... ORPHA:300605
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Bilateral ptosis, Rhabdomyolysis, Myopathy, Palpitations, Increased intr... OMIM:255125
Joubert Syndrome 37
Lumbar hyperlordosis, Postaxial polydactyly, Ptosis OMIM:619185
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Cardiac arrest, Myopathy, Increased variability in muscle fiber diameter, Hyper... OMIM:604377
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Abnormality of the hand, Ragged-red muscle fibers, Abnormality of the extr... ORPHA:298
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals OMIM:615996
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Spina bifida, Facial ... OMIM:304050
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Scoliosis, Brachydactyly OMIM:613819
Tarp Syndrome
Finger syndactyly, Thick eyebrow, Single transverse palmar crease, Rocker bottom foot, Postaxial ... ORPHA:2886
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Facial hypotonia, Postaxial polydactyly, Upper eyelid entropion, Hydrocephalus, Hip... ORPHA:457284
Renpenning Syndrome 1
Mandibular prognathia, Long face, Epicanthus, Telecanthus, Narrow face, Micrognathia, Upslanted p... OMIM:309500
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, 2-3 toe syndactyly, Distal amyotrophy, Talipes equinovarus, Abnormal facial shape, Do... ORPHA:477817
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Abnormal facial shape, A... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Abnormal facial shape, A... ORPHA:363958
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Epicanthus, Micromelia... OMIM:614091
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Synophrys, Clin... OMIM:612474
Silver-Russell Syndrome 4
Triangular face OMIM:618907
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Fiber type... OMIM:607459
Orofaciodigital Syndrome Type 6
Long face, Syndactyly, Mesoaxial polydactyly, Epicanthus, Highly arched eyebrow, Micrognathia, Ce... ORPHA:2754
Orofaciodigital Syndrome V
Unilateral ptosis, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:174300
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Long eyelashes, Facial palsy, Ptosis OMIM:606407
Distal Deletion 15Q
Coarse facial features, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgn... ORPHA:1596
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal eyelid morphology, Short neck, Abnormal facial shape, Long face, Arachnoda... ORPHA:567
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micromelia, Aplastic clavicle, Postaxial polydactyly, Short neck, Hydrocephalus, Congenital diaph... OMIM:616546
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Nephronophthisis 15
Polydactyly OMIM:614845
Global Developmental Delay With Speech And Behavioral Abnormalities
Downslanted palpebral fissures, Triangular face, Micrognathia OMIM:619243
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o... ORPHA:3265
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Telecanthus, Micrognathia, Polydactyly, Downslanted palpebral fissures, Sparse lateral eyebrow, P... ORPHA:314655
Stromme Syndrome
Micrognathia, Hydrocephalus, Preaxial polydactyly, Myopathy, Stillbirth, Agenesis of corpus callosum OMIM:243605
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Bowing of the long bones, Telecanthus, Arachnodactyly, Camptodactyly... ORPHA:2462
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Degcags Syndrome
Micrognathia, Synophrys, Diaphragmatic eventration, Abnormal facial shape, Agenesis of corpus cal... OMIM:619488
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Joubert Syndrome 27
Polydactyly, Triangular face OMIM:617120
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo... OMIM:276820
Fanconi Anemia, Complementation Group C
Epicanthus, Absent thumb, Absent radius, Short thumb, Flexion contracture, Anterior wedging of T1... OMIM:227645
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Multiple joint contractures,... ORPHA:464306
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Aortic regurgitation, Entropion, Overlapping toe, Tricuspid regurgitation,... OMIM:617402
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Spina bifida, Raynaud phenomenon, Hemiatrophy, Scoliosis, Arrhythmia ORPHA:2874
Chromosome 14Q11-Q22 Deletion Syndrome
Epicanthus, Triangular face, Micrognathia, Macroglossia, Mesomelia, Blepharophimosis, Agenesis of... OMIM:613457
Acromelic Frontonasal Dysplasia
Encephalocele, Telecanthus, Meningocele, Patellar hypoplasia, Agenesis of corpus callosum, Talipe... ORPHA:1827
Mevalonic Aciduria
Downslanted palpebral fissures, Triangular face ORPHA:29
Optic Atrophy 11
Facial diplegia, Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, F... OMIM:617302
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Limb undergrowth, Long face OMIM:619142
Curry-Jones Syndrome
Duplication of thumb phalanx, Facial asymmetry, Blepharophimosis, Preaxial hand polydactyly, Lipo... OMIM:601707
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Triangular face ORPHA:1174
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Muscle fiber at... OMIM:182250
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... ORPHA:573278
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Epicanthus, Lumbar hyperlordosis, Micrognathia, Blepharophimosis, Upslanted palpebral... OMIM:616975
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb p... ORPHA:59315
Cree Mental Retardation Syndrome
Rocker bottom foot, Micrognathia, Cutaneous finger syndactyly, Downslanted palpebral fissures, Tr... OMIM:606851
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Focal Dermal Hypoplasia
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... OMIM:305600
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Epicanthus, Rhabdomyosarcoma, Micrognathia, Abnormality of the upper limb, ... ORPHA:1052
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Synophrys, Triangular face OMIM:619264
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Abnormal curvature of the vertebral column, Abnormal facial shape, Abnormality of t... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Abnormal curvature of the vertebral column, Abnormal facial shape, Abnormality of t... ORPHA:353277
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Aortic regurgitation, Hip dislocation, Talipes equinovarus, Intrauterine growth r... OMIM:616603
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Meier-Gorlin Syndrome 5
Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar... OMIM:613805
Cockayne Syndrome B
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Kyphosis, Dental maloccl... OMIM:133540
Vascular Ehlers-Danlos Syndrome
Telecanthus, Congenital hip dislocation, Hypoplastic lacrimal duct, Epicanthus, Telangiectasia of... ORPHA:286
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal join... OMIM:618223
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot polydactyly, P... OMIM:607361
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hi... OMIM:300968
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Highly arched e... OMIM:619173
Gaucher Disease, Perinatal Lethal
Micrognathia, Neonatal death, Arthrogryposis multiplex congenita, Retrognathia, Triangular face, ... OMIM:608013
Craniofacioskeletal Syndrome
Micrognathia, Blepharophimosis, Hypoplastic frontal sinuses, Small hand, Short foot, Short palm, ... OMIM:300712
Lethal Congenital Contracture Syndrome 5
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemor... OMIM:615368
Shprintzen-Goldberg Craniosynostosis Syndrome
Ptosis, Telecanthus, Arachnodactyly, Micrognathia, Metatarsus adductus, Hypoplasia of the maxilla... OMIM:182212
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Epicanthus, Highly arched eyebrow, Short neck, Mitral regurgitation, Finger joint hypermobility, ... OMIM:613563
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger ORPHA:1759
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Skeletal muscle atrophy, Short femur, Flexion contracture, Ragged-red muscle fiber... ORPHA:17
Adnp Syndrome
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Bilateral pto... ORPHA:404448
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Aortic regurgitation, Sacral dimple, Tapered finger, Abnormal toe morphology, Kyph... ORPHA:268261
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ... OMIM:611134
Wiedemann-Rautenstrauch Syndrome
Synophrys, Hypoplastic vertebral bodies, Agenesis of corpus callosum, Long toe, Lagophthalmos, 2-... ORPHA:3455
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Long face, Epicanthus, Tricuspid regurgitation, Abnormal cardiac ventricular funct... ORPHA:466791
Lathosterolosis
Epicanthus, Toe syndactyly, Micrognathia, Lumbosacral meningocele, Myelomeningocele, Postaxial ha... OMIM:607330
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Meier-Gorlin Syndrome 3
Microretrognathia, Aplasia/Hypoplasia of the patella, Micrognathia, Hypoplasia of the maxilla, Pa... OMIM:613803
Congenital Sialidosis Type 2
Abnormal EKG, Coarse facial features, Hydrocephalus, Telangiectasia, Polydactyly, Umbilical hernia ORPHA:93400
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Telecanthus, Epicanthus, Coarse facial features, Upslanted palpebral fissure, Agenesis of corpus ... OMIM:617260
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Epicanthus, Postaxial polydactyly, Synophrys, Upslanted palpebral fissure, Intrauterine growth re... OMIM:615824
Overlap Myositis
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu... ORPHA:206572
Rabson-Mendenhall Syndrome
Mandibular prognathia, Coarse facial features, Macroglossia, Cardiomyopathy, Polydactyly, Advance... ORPHA:769
Glycogen Storage Disease Xii
Ptosis, Epicanthus, Short neck, Myopathy, Increased variability in muscle fiber diameter, Muscle ... OMIM:611881
Lacrimoauriculodentodigital Syndrome 1
Preaxial polydactyly, Radial deviation of the 3rd finger, Conical incisor, Conjunctivitis, Tripha... OMIM:149730
Mandibuloacral Dysplasia Progeroid Syndrome
Tricuspid regurgitation, Sandal gap, Decreased fibular diameter, Micrognathia, Sparse eyebrow, Fl... OMIM:619127
Pallister-Hall Syndrome
Hemivertebrae, Holoprosencephaly, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Umbili... ORPHA:672
Floating-Harbor Syndrome
Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Triangular face, Kyphoscolios... OMIM:136140
Joubert Syndrome 40
Almond-shaped palpebral fissure, Postaxial polydactyly OMIM:619582
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Bilateral ptosis, Dilated card... OMIM:164310
Vici Syndrome
Epicanthus, Micrognathia, Congestive heart failure, Dilated cardiomyopathy, Myopathy, Cardiomyopa... OMIM:242840
Autosomal Recessive Faciodigitogenital Syndrome
Long face, Finger syndactyly, Telecanthus, Down-sloping shoulders, Micrognathia, Short foot, Upsl... ORPHA:1974
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... OMIM:600145
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Dilated cardiomyopathy,... ORPHA:70595
Neuromuscular Oculoauditory Syndrome
Epicanthus, Knee flexion contracture, Calf muscle hypertrophy, Agenesis of corpus callosum, Muscl... OMIM:618733
Branchiooculofacial Syndrome
Telecanthus, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short ne... OMIM:113620
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Epicanthus, Tricuspid regurgitation, Kyphoscoliosis, Atlantoaxial instab... OMIM:614557
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia, Ptosis OMIM:530000
Feingold Syndrome 1
Epicanthus, Tricuspid stenosis, Micrognathia, Short thumb, Short toe, 4-5 toe syndactyly, 2-3 toe... OMIM:164280
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Meningocele, Blepharophimosis, Ptosis ORPHA:2031
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Triangular face, Micrognathia OMIM:614887
Partington Syndrome
Triangular face, Facial telangiectasia ORPHA:94083
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Epicanthus, Narrow face, Upslanted palpebral fissure, Macroglossia, Triangular face, Long face ORPHA:93947
Cerebrooculonasal Syndrome
Encephalocele, Epicanthus, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Hydrocephalus... OMIM:605627
Yuan-Harel-Lupski Syndrome
Epicanthus, Sandal gap, Upslanted palpebral fissure, Clinodactyly of the 5th finger, Downslanted ... OMIM:616652
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Dilated ... ORPHA:254892
Neurofibromatosis, Type I
Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu v... OMIM:162200
Cranioectodermal Dysplasia 3
Telecanthus, Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3... OMIM:614099
Orofaciodigital Syndrome Xiv
Microretrognathia, Occipital encephalocele, Natal tooth, Telecanthus, Broad hallux, Micrognathia,... OMIM:615948
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Epicanthus, Torticollis, Spina bifida, Tapered finger, Partial agenesis of the corpus callosum, U... OMIM:619480
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Hydrocephal... OMIM:610168
Cutis Laxa, Autosomal Recessive, Type Iiib
Flexion contracture, Elbow flexion contracture, Hip dislocation, Narrow palpebral fissure, Intrau... OMIM:614438
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Noonan Syndrome 1
Ptosis, Epicanthus, Kyphoscoliosis, Micrognathia, Short neck, Dental malocclusion, Hypertrophic c... OMIM:163950
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele ORPHA:2481
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Cloacal Exstrophy
Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal... ORPHA:93929
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... OMIM:617895
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... ORPHA:268810
Mevalonic Aciduria
Downslanted palpebral fissures, Triangular face, Kyphoscoliosis OMIM:610377
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Epicanthus, Telecanthus, Single transverse palmar crease, Tapered finger, Carious teet... OMIM:619522
Hypotonia, Ataxia, And Delayed Development Syndrome
Tapered finger, Synophrys, Oval face, Upslanted palpebral fissure, Horizontal eyebrow, Weakness o... OMIM:617330
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... OMIM:192350
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Ragged-red muscle fibers, Agenesis of corpus callosum, Ptosis OMIM:614924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Hydrocephalus, Muscular dystrophy OMIM:616538
Septooptic Dysplasia
Agenesis of corpus callosum, Polydactyly, Short finger OMIM:182230
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Maternal Uniparental Disomy Of Chromosome 6
Slender long bone, Miscarriage, Triangular face, Intrauterine growth retardation ORPHA:96181
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... ORPHA:79102
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Generalized muscular appearance from birth, Cardiomyopathy, Large hands, U... OMIM:608594
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta... OMIM:607426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Muscular dystrophy, Increased e... OMIM:613154
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated... ORPHA:550
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Telecanthus, Congenital hip dislocation, Overlapping toe, Sacral dimple, Postaxial... ORPHA:480880
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Limb undergrowth, Intrauterine growth retardation, Clinodactyly, Triangul... OMIM:616541
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Adducted thumb, Hip dislocation, Abnormal curvatu... ORPHA:90348
Floating-Harbor Syndrome
Short metacarpal, Brachydactyly, Kyphoscoliosis, Persistence of primary teeth, Avascular necrosis... ORPHA:2044
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Generalized muscular appearance from birth, Large hands, Umbilical hernia,... OMIM:269700
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content ORPHA:228302
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Legius Syndrome
Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Xanthelasma, Polydactyly, Scoliosis, Lisch n... ORPHA:137605
Pagod Syndrome
Encephalocele, Death in infancy, Congenital diaphragmatic hernia, Sudden cardiac death, Spina bif... ORPHA:991
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Cardiomyopa... ORPHA:565612
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Epicanthus, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, Aplasia of th... OMIM:617088
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... ORPHA:98908
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Death in infancy, Ragged-red muscle fibers, Concentric hypertrophic card... OMIM:252010
Neurocardiofaciodigital Syndrome
Syndactyly, Sparse eyebrow, Narrow palpebral fissure, Lateral ventricle dilatation, Polydactyly, ... OMIM:619869
Alagille Syndrome 2
Hypertension, Triangular face, Pulmonic stenosis OMIM:610205
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Distal amyotrophy, Ragged-red muscle fibers, Ptosis OMIM:603041
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Hip dislocation, Facial asymmetry ORPHA:2003
Pancreatic And Cerebellar Agenesis
Death in infancy, Flexion contracture, Severe intrauterine growth retardation, Overlapping finger... OMIM:609069
Joubert Syndrome 39
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Meningocele, Palmoplantar keratoderma, Flexion ... ORPHA:1010
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Syndactyly, Round face, Tricuspid regurgitation, Left-to-right shunt, Cardi... OMIM:619534
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Triangular face ORPHA:65288
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Knobloch Syndrome 1
Occipital encephalocele, Epicanthus, Telecanthus, Narrow face, Horizontal eyebrow, Occipital meni... OMIM:267750
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Cntnap2-Related Developmental And Epileptic Encephalopathy
Downslanted palpebral fissures, Preaxial polydactyly ORPHA:163681
Choanal Atresia
Chronic sinusitis, Polydactyly ORPHA:137914
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Alobar Holoprosencephaly
Hydrocephalus, Flexion contracture, Hip dislocation, Abnormal heart rate variability, Neural tube... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Flexion contracture, Hip dislocation, Abnormal heart rate variability, Neural tube... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Flexion contracture, Hip dislocation, Abnormal heart rate variability, Neural tube... ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Flexion contracture, Hip dislocation, Abnormal heart rate variability, Neural tube... ORPHA:220386
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Alagille Syndrome 1
Hypoplasia of the ulna, Hemivertebrae, Upslanted palpebral fissure, Triangular face, Butterfly ve... OMIM:118450
Phosphoribosylpyrophosphate Synthetase Superactivity
Epicanthus, Death in childhood, Downslanted palpebral fissures, Triangular face, Ptosis OMIM:300661
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Hydrocephalus, Triangular face, Lateral ventricle dilatation OMIM:619575
Combined Pituitary Hormone Deficiencies, Genetic Forms
Agenesis of corpus callosum, Polydactyly, Holoprosencephaly, Hypotension, Osteoporosis of vertebr... ORPHA:95494
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Hypertrophic cardiomyopathy, Ptosis OMIM:124000
Okamoto Syndrome
Hip dysplasia, Polydactyly, Scoliosis, Long palpebral fissure, Aortic valve stenosis, Ptosis ORPHA:2729
Choreoacanthocytosis
Temporomandibular joint crepitus, Peroneal muscle atrophy, Dilated cardiomyopathy, Blepharospasm,... ORPHA:2388
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Triangular face, Ptosis OMIM:615510
Arima Syndrome
Postaxial hand polydactyly, Postaxial foot polydactyly, Hypertension, Occipital meningocele, Ptosis OMIM:243910
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cardiac conduction... ORPHA:255210
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Epicanthus, Camptodactyly of finger, Kyphosis, Dilated cardiomyopath... ORPHA:1606
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
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly OMIM:219730
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Liver Disease, Severe Congenital
Epicanthus, Micrognathia, Abnormal left ventricular function, Systolic heart murmur, Umbilical he... OMIM:619991
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:619471
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertension, Pulmonary arterial hypertension, Lower limb muscle weaknes... OMIM:606721
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Woodhouse-Sakati Syndrome
Abnormal T-wave, Triangular face, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Bartter Syndrome Type 4
Hypertension, Triangular face ORPHA:89938
Bartter Syndrome, Type 2, Antenatal
Triangular face, Low-to-normal blood pressure OMIM:241200
Woodhouse-Sakati Syndrome
Abnormal T-wave, Triangular face OMIM:241080
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormality of the orbital region ORPHA:322

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter