banner
Genes Phenotypes Help, News, Blog

Gene: Fbn2 MGI:95490

Log in to follow

Gene Summary

Name:
fibrillin 2
Synonyms:
Fib-2,  Sne,  sy

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
abnormal brain morphology Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal bone structure Fbn2em1(IMPC)Rbrc HOM Early adult 1.81×10-06
abnormal vertebral arch morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal tibia morphology Fbn2em1(IMPC)Rbrc HOM Early adult 7.10×10-11
enlarged heart Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal clavicle morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal gait Fbn2em1(IMPC)Rbrc HOM Early adult 3.41×10-06
abnormal radius morphology Fbn2em1(IMPC)Rbrc HOM Early adult 4.18×10-10
abnormal liver morphology Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal heart morphology Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal fibula morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal heart morphology Fbn2em1(IMPC)Rbrc HOM Late adult 0.00
corneal opacity Fbn2em1(IMPC)Rbrc HOM Early adult 3.49×10-11
abnormal pelvic girdle bone morphology Fbn2em1(IMPC)Rbrc HOM Early adult 4.67×10-06
abnormal liver morphology Fbn2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal tail morphology Fbn2em1(IMPC)Rbrc HOM   Early adult 2.10×10-06
abnormal kidney morphology Fbn2em1(IMPC)Rbrc HOM Late adult 0.00
syndactyly Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
decreased circulating amylase level Fbn2em1(IMPC)Rbrc HOM   Early adult 1.93×10-05
abnormal autopod morphology Fbn2em1(IMPC)Rbrc HOM Early adult 3.54×10-15
abnormal optic disk morphology Fbn2em1(IMPC)Rbrc HOM Early adult 5.15×10-05
abnormal kidney morphology Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal skin morphology Fbn2em1(IMPC)Rbrc HOM Early adult 3.41×10-06
abnormal ulna morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
enlarged heart Fbn2em1(IMPC)Rbrc HOM Late adult 0.00
increased circulating alkaline phosphatase level Fbn2em1(IMPC)Rbrc HOM Early adult 2.14×10-10
abnormal zygomatic bone morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal digit morphology Fbn2em1(IMPC)Rbrc HOM   Early adult 1.23×10-21
abnormal joint morphology Fbn2em1(IMPC)Rbrc HOM   Early adult 8.78×10-07
decreased anxiety-related response Fbn2em1(IMPC)Rbrc HOM   Early adult 2.09×10-05
abnormal rib morphology Fbn2em1(IMPC)Rbrc HOM Early adult 8.97×10-08
abnormal nail morphology Fbn2em1(IMPC)Rbrc HOM Early adult 3.48×10-15
abnormal mandible morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal humerus morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
decreased body length Fbn2em1(IMPC)Rbrc HOM Early adult 3.79×10-13
abnormal femur morphology Fbn2em1(IMPC)Rbrc HOM Early adult 6.97×10-11
abnormal heart weight Fbn2em1(IMPC)Rbrc HOM Late adult 2.54×10-07
thrombocytopenia Fbn2em1(IMPC)Rbrc HOM Early adult 6.13×10-06
increased bone mineral content Fbn2em1(IMPC)Rbrc HOM Early adult 4.19×10-06
prolonged ST segment Fbn2em1(IMPC)Rbrc HOM   Early adult 1.65×10-05
abnormal eye morphology Fbn2em1(IMPC)Rbrc HOM Early adult 0.00
corneal vascularization Fbn2em1(IMPC)Rbrc HOM Early adult 4.32×10-06
decreased grip strength Fbn2em1(IMPC)Rbrc HOM Early adult 3.58×10-31
vertebral fusion Fbn2em1(IMPC)Rbrc HOM   Early adult 5.23×10-06
abnormal brain morphology Fbn2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal cranium morphology Fbn2em1(IMPC)Rbrc HOM Early adult 4.18×10-10

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Gross Pathology and Tissue Collection

Images

85 Images

View images
Gross Pathology and Tissue Collection

Images

72 Images

View images
Eye Morphology

Images Ophthalmoscopy

7 Images

View images
Combined SHIRPA and Dysmorphology

Images

20 Images

View images
X-ray

XRay Images Forepaw

28 Images

View images
X-ray

XRay Images Hind Leg and Hip

28 Images

View images
Eye Morphology

Images Slit Lamp

20 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

2 Images

View images

Human diseases caused by Fbn2 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 Fbn2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Contractural Arachnodactyly, Congenital
Micrognathia, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Arachnodact... OMIM:121050
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Ectopia lentis, Congenital contracture, Camptodactyly of finger, Arthr... ORPHA:115
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118

The table below shows human diseases predicted to be associated to Fbn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Spinal Muscular Atrophy With Impaired Intellectual Development
Syndactyly OMIM:271109
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Sh... OMIM:616849
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe... OMIM:272150
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa... OMIM:309630
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Radial Hemimelia
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... ORPHA:93321
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly OMIM:613681
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact... OMIM:112700
Familial Digital Arthropathy-Brachydactyly
Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all... ORPHA:85169
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Ethanolaminosis
Cardiomegaly OMIM:227150
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Craniosynostosis, Adelaide Type
Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co... OMIM:600593
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, P... OMIM:613530
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st... OMIM:182255
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... ORPHA:93396
Brachydactyly, Type A1, B
Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S... OMIM:607004
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte... OMIM:606835
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Gowers sign, Intrauterine growth retardation, Proxima... OMIM:255200
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:618848
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Pectus carinatum, Scoliosis, Short iliac bones, Flattened proximal rad... OMIM:271530
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Brachydactyly, Type A1
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... OMIM:112500
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle weakness OMIM:614807
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... OMIM:617030
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness, Proximal muscle weakness OMIM:616231
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal OMIM:112410
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Scoliosis, Abnormal form of the vertebral bodies, Reduced... ORPHA:2370
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Congenital hip dislocation, Generalized muscle weakne... OMIM:255310
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... OMIM:619477
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Hirsutism, Corneal opacity, Ge... OMIM:277950
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Thick eyebrow, Radioulnar synos... ORPHA:3268
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Finger syndactyly, Limited knee flexio... ORPHA:93323
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Decreased movem... OMIM:609115
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... OMIM:618940
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Hyporeflexia of upper limbs, Type 1 muscle fiber predominance,... ORPHA:178145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Resti... ORPHA:401768
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Distal muscle weakness OMIM:604454
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Short stature, Facial palsy, N... OMIM:616209
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormal form of the vertebral bodies, Micrognathia, Abnormal morphology of ulna,... ORPHA:3104
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Prenatal Bowing
Bowing of the long bones OMIM:264050
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal heart morphology, Abnormal hip bone morphology, Abn... ORPHA:294975
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Neck muscle weakness, Limb muscle weakness, Ragged-red musc... OMIM:500002
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Peripher... OMIM:156530
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Foot dorsiflexo... ORPHA:603
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... OMIM:618654
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly OMIM:140450
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal heart valve morphology... ORPHA:577
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we... OMIM:617258
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d... OMIM:102510
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Proximal muscle weakness, Weakness o... OMIM:615959
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... ORPHA:169186
Kniest Dysplasia
Enlarged metaphyses, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth,... OMIM:253010
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Hepatomegaly, Optic disc pallor, Generalized aminoaciduria, Hypotriglyce... ORPHA:404454
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Hip dislocation, Slender finger, Increased endomy... ORPHA:75840
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... OMIM:616471
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Oculopharyngeal Muscular Dystrophy 1
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, D... OMIM:164300
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Joint disloca... ORPHA:582
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... ORPHA:97240
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle, Short thumb, E... ORPHA:968
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacar... OMIM:166300
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Pectus carinatum, Optic atrophy, Hyperplasia of the maxilla, Lumbar hype... ORPHA:313892
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Elevated circulating aspartate aminotransferase concentration, Malar flatte... OMIM:614727
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe... OMIM:127300
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Tremor, Triceps weakness, ... OMIM:619574
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ... OMIM:112450
Inclusion Body Myositis
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, C... OMIM:248800
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Vertebral segmentation defect, Ureteral atresi... OMIM:618845
Camptobrachydactyly
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... ORPHA:1319
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Bowen-Conradi Syndrome
Micrognathia, Clinodactyly of the 5th finger, Rocker bottom foot, Abnormal joint morphology OMIM:211180
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Shor... OMIM:614326
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... OMIM:201250
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Osteoporosis
Osteoporosis OMIM:166710
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Brachydactyly Type C
Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan... ORPHA:93384
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Ab... ORPHA:93351
Platyspondylic Dysplasia, Torrance Type
Low-set ears, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromel... ORPHA:85166
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Delayed skeletal maturat... ORPHA:1837
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Progressive distal muscle weakness, Intrinsic han... ORPHA:399086
Alpha-Mannosidosis
Synostosis of joints, Cataract, Craniofacial hyperostosis, Scoliosis, Dental malocclusion, Mandib... ORPHA:61
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla, Difficulty wa... OMIM:300280
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot DECIPHER:46
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Abnormal hand morpho... ORPHA:93307
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, Hypoplasia of the maxilla, High anterior hairline, Finger syndactyly... ORPHA:915
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca... ORPHA:50809
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... ORPHA:596
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Split hand... OMIM:610099
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... OMIM:253000
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Proxi... OMIM:609524
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Hand clenching, Limb muscle weakness, Generalized... OMIM:256030
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy, Tremor... ORPHA:309169
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot OMIM:190680
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Mi... OMIM:259600
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Proximal mu... OMIM:611615
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Joint hypermobility, Attention deficit hyperactivity disorder, Ataxia, Compuls... ORPHA:238446
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... OMIM:225280
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:608807
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... OMIM:160565
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Abnormal epiphysis morphology, Carious teeth, Delayed skeletal maturation, Reduced bon... ORPHA:2501
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Rod-cone dystr... ORPHA:168549
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... OMIM:608340
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly,... OMIM:618961
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ectopia pupillae, Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Ovoid ver... OMIM:608940
Aurocephalosyndactyly
4-5 toe syndactyly OMIM:109050
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Mand... ORPHA:950
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Neck muscle weakness,... OMIM:160500
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Precocious costochondral ossification... OMIM:271630
Metatropic Dysplasia
Cataract, Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Micromelia, Hypoplastic ... ORPHA:2635
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Camurati-Engelmann Disease
Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Metaphyseal ... ORPHA:1328
Feingold Syndrome Type 2
Short middle phalanx of finger, Toe syndactyly, Brachydactyly, Short thumb ORPHA:391646
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split hand, Split foot OMIM:183700
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal heart morphology, Abnormal thorax morp... ORPHA:1445
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,... OMIM:249710
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor, Claw hand deformity, Hammertoe OMIM:618511
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Genu valgum, Metaph... ORPHA:85198
Harel-Yoon Syndrome
Ataxia, Pectus carinatum, Mandibular prognathia, Optic atrophy, Hypertrophic cardiomyopathy, Inab... OMIM:617183
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Kbg Syndrome
Finger clinodactyly, Delayed skeletal maturation, Persistent open anterior fontanelle, Cervical r... ORPHA:2332
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Elbow dislocat... ORPHA:2633
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Osteopenia, Abnormal lower limb bone morphology, Increased susceptib... ORPHA:2788
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... ORPHA:1354
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Cataract, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavic... ORPHA:93267
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Asteroid hyalosis, Intervertebral space narrowing, Red... ORPHA:166011
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Postur... OMIM:619790
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo... ORPHA:1801
Keratoconus Posticus Circumscriptus
Keratoconus, Vesicoureteral reflux, Limited elbow extension and supination, Short neck, Brachydac... OMIM:244600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Progressive ex... OMIM:617069
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Abnormal pelvic girdle bone morphology, Pelvic g... OMIM:167320
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va... OMIM:305620
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Neck muscle weakness, Limb muscle weakness... OMIM:609285
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca... ORPHA:392
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Clinodactyly, Retrognathia, Truncus arteriosus, Ventricular s... OMIM:615583
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Tarsal-Carpal Coalition Syndrome
Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr... OMIM:186570
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Post... ORPHA:567
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Isolated Osteopoikilosis
Limitation of joint mobility, Abnormal pelvis bone ossification, Sclerosis of foot bone, Abnormal... ORPHA:166119
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Renal insufficiency, A... ORPHA:971
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... ORPHA:959
Poland Syndrome
Acute leukemia, Small hand, Finger syndactyly, Ureterocele, Aplasia/Hypoplasia of the sternum, Lo... ORPHA:2911
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Multipl... ORPHA:66637
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Ectopia pupillae, Cone/cone-rod dystrophy, Bowing of the long bones, Short metac... ORPHA:85167
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... OMIM:606895
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Ventricular septal defect, Talipes equinovarus, ... OMIM:301056
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Jeune Syndrome
Nephropathy, Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, ... ORPHA:474
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Optic atrophy, Overlapping toe OMIM:618572
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ... OMIM:614814
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Difficulty walking, Abnormality of the sphenoid sinus, B... ORPHA:249
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Corneal neovascularization, Limbal stem cell deficiency, Nail dystrophy... OMIM:615225
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ... OMIM:228900
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... OMIM:250460
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Clinodactyly, Genu valgum, Cutane... ORPHA:166024
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl... OMIM:616052
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Mandibular prognathia, Pectus carinatum, Optic atrophy, Hypertrophic cardiomyopathy, Mi... ORPHA:496790
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Beaking of vertebral bodies, Retinal detachment, Broad toe, Flat acetabul... OMIM:609616
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Paraspinal muscle hypertrophy, Knee flexion contracture, Hip contracture, Short stature, Scapular... OMIM:602484
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thumb, Abnormality of... OMIM:216100
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... ORPHA:2639
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Talipes equin... OMIM:611588
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral met... OMIM:602271
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Seckel Syndrome 7
Madelung deformity, Primary amenorrhea, Hip dysplasia, Clinodactyly of the 5th finger, Short midd... OMIM:614851
Gordon Syndrome
Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Short stature, Clinodactyly of... ORPHA:376
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse, Abnormal morphology of ulna, Low posterior hairline, Short neck, Abnormal ... ORPHA:2233
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Diaphragmatic weakness, ... OMIM:614399
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Melnick-Needles Syndrome
Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathia, Bowing of the long bones... ORPHA:2484
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Ectrodactyly-Polydactyly
Split hand, Split foot, Postaxial hand polydactyly OMIM:225290
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Carpal bone hypoplasia, Hepatomegaly, Hy... OMIM:252600
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, External ophthalmoplegia, Proximal muscle weaknes... ORPHA:98905
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Ventricular septal defect, Talipes equinovarus... OMIM:150250
Gm1 Gangliosidosis
Cherry red spot of the macula, Hepatosplenomegaly, Oral aversion, Ventricular septal defect, Gene... ORPHA:354
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... OMIM:609283
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carious teeth, Hypoplastic iliac wing, ... OMIM:253200
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Bulbar palsy, ... OMIM:603511
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ... OMIM:143095
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Hypoplastic heart, Akinesia, Micrognathia, Increased ... OMIM:253290
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific... OMIM:105835
Chondrodysplasia, Blomstrand Type
Fetal ascites, Micromelia, Flared metaphysis, Micrognathia, Malar flattening, Short ribs, Advance... OMIM:215045
Ventriculomegaly And Arthrogryposis
Hand clenching, Talipes equinovarus, Micrognathia, Ulnar deviation of the wrist OMIM:619501
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Camptodactyly of finger, Inappropriate laughter, Gait ataxia, Jaw swelling, Flexio... OMIM:619323
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi... ORPHA:1826
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Restrictive cardiomyopathy, Clinodactyly, Mitral regurgitation, Patent foramen ovale, H... ORPHA:88630
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal vertebral morphology, Sparse scalp hair, Megalocornea, Subluxatio... ORPHA:536471
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Short finger, Hypoplastic heart, Micrognathia, Increased susceptibi... OMIM:312150
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Diaphragmati... OMIM:604801
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Ventricular septal defect, Barre... OMIM:178110
Autoinflammation With Arthritis And Dyskeratosis
Polyarticular arthritis, Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anem... OMIM:617388
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal hair morphology, Micrognat... ORPHA:251014
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Clinodactyly, Scapular ... OMIM:181405
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Urinary glycosamin... OMIM:253220
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Mucopolysaccharidosis Type 1
Generalized hirsutism, Joint dislocation, Hypertrophic cardiomyopathy, Retinopathy, Low anterior ... ORPHA:579
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Talipes equi... OMIM:108720
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Pa... OMIM:620662
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... ORPHA:166016
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Micrognathia, Ventricular septal defect, Atrial septal defect, Di... OMIM:620663
Neuralgic Amyotrophy
Upper limb muscle weakness, Scapular winging, Short stature, Upper limb amyotrophy, Syndactyly ORPHA:2901
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Optic atrophy, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Delayed skeletal ... OMIM:613320
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Ventricular septal defect, Bi... ORPHA:508498
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Short ... ORPHA:239
Infantile Sialic Acid Storage Disease