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Gene: Fbn2 MGI:95490

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

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

85 Images

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Gross Pathology and Tissue Collection

Images

72 Images

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Eye Morphology

Images Ophthalmoscopy

7 Images

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Combined SHIRPA and Dysmorphology

Images

20 Images

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X-ray

XRay Images Forepaw

28 Images

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X-ray

XRay Images Hind Leg and Hip

28 Images

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Eye Morphology

Images Slit Lamp

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

2 Images

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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
Osteopenia, Nephrotic syndrome, Fair hair, Congestive heart failure, Abnormal thorax morphology, ... OMIM:269920
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly ORPHA:2266
Bethlem Muscular Dystrophy
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... ORPHA:610
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Martsolf Syndrome 1
Micrognathia, Low posterior hairline, Talipes equinovarus, Broad fingertip, Finger joint hypermob... OMIM:212720
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Radial bowing, Elbow dislocation, Megalocornea, Decreased mobility 3rd-5t... OMIM:164900
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Short stepped shuffling gait, Microcornea, Broad thumb, Limitation of joint mobi... OMIM:151200
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Congestive heart failure, Bowing of the long bones, Pulmonary arterial hyper... OMIM:619751
49,Xyyyy Syndrome
Short 5th finger, Male hypogonadism, Finger clinodactyly, Bridged palmar crease, Low-set, posteri... ORPHA:99330
Lamb-Shaffer Syndrome
Pectus carinatum, Optic atrophy, Clinodactyly, Long hallux, Overlapping toe, Vertebral clefting, ... OMIM:616803
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Lacrimoauriculodentodigital Syndrome
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Limbal stem cell de... ORPHA:2363
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... ORPHA:321
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Overlapping toe, Micrognathia, Low posterior hairline, Talipes equinovarus,... OMIM:213980
Sclerosteosis
Craniofacial hyperostosis, Optic atrophy, Finger syndactyly, Curved distal phalanges of the hand,... ORPHA:3152
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Generalized hirsutism, Beaking of ver... OMIM:619636
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respiratory insufficiency due to m... OMIM:300580
Kid Syndrome
Sparse eyebrow, Keratitis, Palmoplantar keratoderma, Patellar hypoplasia, Nail dystrophy, Delayed... ORPHA:477
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Neutropenia, Diaphyseal undertubulation, Metaph... ORPHA:175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Shoulder girdle muscle weakness, Elbow contracture, Difficulty walking, Elevated ci... OMIM:606612
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... ORPHA:65759
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Iris colob... OMIM:109400
Hurler Syndrome
Hypoplasia of the odontoid process, Hepatosplenomegaly, Endocardial fibroelastosis, Urinary glyco... OMIM:607014
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap... OMIM:618889
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... OMIM:601462
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormal clavicle morphology, Malar prominence, Abnormal hip bo... ORPHA:2522
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Genu valgum, Urinary glycosaminoglycan excretion, Abnormal mitral valv... ORPHA:581
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... ORPHA:1159
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Micrognathia, Talipes equinovarus, ... ORPHA:2839
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Thoracic hypoplasia, Small e... OMIM:608728
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Ventricular septal defect, Decreased skull ossification... OMIM:616897
Koolen-De Vries Syndrome
Cataract, Hypospadias, Kyphosis, Abnormal dental enamel morphology, Vesicoureteral reflux, Overfr... ORPHA:96169
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Abnormal muscle fiber morph... ORPHA:270
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Genu valgum, Micrognathia, Decreased skull ossification, Abn... ORPHA:1452
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Small hand, Microretrognathia, Self-mutilation, Hepatomegaly, Flexion contracture,... OMIM:300884
Hurler Syndrome
Abnormal vertebral morphology, Limitation of joint mobility, Endocardial fibroelastosis, Generali... ORPHA:93473
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Optic atrophy, Micrognathia, Motor stereotypy, Fused cervical vertebrae... ORPHA:530983
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Cataract, Platyspondyly, Arthralgia of the... ORPHA:1856
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... OMIM:250220
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Mi... ORPHA:666
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red m... ORPHA:353327
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Abnormal sac... ORPHA:1988
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Low posterior hairline, Short neck, Atrial septal defect, Neutrop... OMIM:617303
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Metaphyseal dysplasia, Genu varum, Delayed ossification of carpal bone... OMIM:617974
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Enamel hy... OMIM:307800
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Ventricular septal defect, Abnormality of... ORPHA:290
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Broad-based gait, Contractures of the large joints, Short femoral neck, Sinu... OMIM:616716
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ... OMIM:618728
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... OMIM:184252
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Optic atrophy, Craniofacial osteosclerosis, Cortical sclerosis, Diaphy... OMIM:122860
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Macrotia, Brachydactyly, Posteriorly rotated ears, Delayed ossification of ca... OMIM:618392
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Atrial septal de... ORPHA:52056
Duane-Radial Ray Syndrome
Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Small thenar eminen... OMIM:607323
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
ERI1-related disease
Micrognathia, Ventricular septal defect, Patellar dislocation, Finger joint hypermobility, Disloc... OMIM:608739
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... OMIM:156550
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Ataxia, Flattene... OMIM:300232
Koolen-De Vries Syndrome
Ventricular septal defect, Narrow palm, Bicuspid aortic valve, Atrial septal defect, Hip dislocat... OMIM:610443
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Tip-toe gait, Shoulder girdle muscle weakness, Difficulty walking, Exerci... OMIM:607155
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Micrognathia, Mitral valve prolapse, Low posterior hairline, Bi... OMIM:245600
Mitochondrial Myopathy, Infantile, Transient
Neck muscle weakness, Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied mus... OMIM:500009
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... OMIM:610017
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Cardiomyopathy, Shoulder girdle muscle weakness, Cardiomyocyte hypertrop... ORPHA:263297
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental ... ORPHA:2916
Monosomy 5P
Small hand, Microretrognathia, Finger syndactyly, Joint hypermobility, Abnormality of bone minera... ORPHA:281
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cran... OMIM:175700
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Cantu Syndrome
Broad first metatarsal, Bicuspid aortic valve, Hypoplastic ischiopubic ramus, Short hallux, Short... OMIM:239850
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... ORPHA:429
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Prog... OMIM:617070
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... OMIM:610539
Jackson-Weiss Syndrome
Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m... OMIM:123150
Mietens Syndrome
Cataract, Microcornea, Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Jo... ORPHA:2557
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Sparse scalp hair, Radial bowing, Carpal synostosis, Genu valgum, Micrognat... OMIM:271640
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Dysplastic patella, Patellar aplasia, Arachnodactyly, Talipe... OMIM:265000
Myhre Syndrome
Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla... OMIM:139210
Mulibrey Nanism
Pigmentary retinopathy, Dental malocclusion, Congestive heart failure, Astigmatism, Single transv... OMIM:253250
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... OMIM:613205
Cutis Laxa, Autosomal Recessive, Type Iie
Highly arched eyebrow, Lumbar hyperlordosis, Long eyelashes, Joint hypermobility, Deep palmar cre... OMIM:619451
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Elbow dislocat... OMIM:108721
Galactosialidosis
Abnormal vertebral morphology, Cherry red spot of the macula, Abnormality of the vertebral column... ORPHA:351
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Carious teeth, Facial paralysis, Flared metaphysis, Sandwich appearance of vertebr... OMIM:259700
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Microretro... ORPHA:1307
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Talipes equinovarus, Peripheral axonal neuropathy, Decreased n... OMIM:617087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Proximal muscle wea... OMIM:608840
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals OMIM:618724
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Generalize... OMIM:264700
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Generalized muscle weakness ORPHA:238329
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Patellar dislocation, Short toe, Hearing impairment, Knee dislocation, ... OMIM:614078
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Pulmonic s... OMIM:212780
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Broad femoral neck, Irregular epiphyses, A... OMIM:132400
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Atrial septal de... OMIM:620076
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Carious teeth, Microretrognathia, Hearing impairment, Knee dislocation, Sm... OMIM:618363
Distal Deletion 17Q
Optic atrophy, Small hand, Deviation of finger, Micromelia, Abnormal form of the vertebral bodies... ORPHA:1597
Charlie M Syndrome
Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand,... ORPHA:1406
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli... ORPHA:3210
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Abnormal pelvic girdle bone morphology, Rhizomelia, Osteopenia, Optic nerve hypoplasia,... OMIM:222765
Autosomal Recessive Spastic Paraplegia Type 45
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Spastic gait, Flexion contrac... ORPHA:320396
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Distal lower lim... OMIM:615284
Rippling Muscle Disease 2
Proximal muscle weakness, Gowers sign, Calf muscle hypertrophy, Skeletal muscle hypertrophy OMIM:606072
Fibrodysplasia Ossificans Progressiva
Alopecia, Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossi... OMIM:135100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Slender finger, Multiple joint dislocation... ORPHA:93360
Desbuquois Syndrome
Genu recurvatum, Sparse hair, Small hand, Patellar dislocation, Elbow dislocation, Camptodactyly ... ORPHA:1425
Gorlin Syndrome
Abnormal vertebral morphology, Cataract, Palmar pits, Carious teeth, Mandibular prognathia, Verte... ORPHA:377
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Mandibular prognathia, Mandibular osteomyelitis, Carious teeth, Facial paralysis, ... OMIM:259710
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Difficulty walking, Fibular bowing, Hypophosphate... OMIM:277440
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Hypospadias, Highly arched eyebrow, Toe syndactyly, Short thumb, H... ORPHA:2319
Cantú Syndrome
Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Ovoid... ORPHA:1517
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Sparse scalp hair, Radial bowing, Hypoplastic iliac wing, ... OMIM:210720
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... ORPHA:3082
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Optic atrophy, Mandibular osteomyelitis, Abnormal epiphysis morph... ORPHA:53
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Short long bone, Polyhydramn... ORPHA:1423
Terminal Osseous Dysplasia
Toe clinodactyly, Iris coloboma, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg ... OMIM:300244
Mucolipidosis Iii Gamma
Aortic valve stenosis, Increased serum beta-hexosaminidase, Aortic regurgitation, Pectus carinatu... OMIM:252605
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exter... OMIM:607459
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Talipes equ... OMIM:620011
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Symphalangism, Proximal, 1A
Distal symphalangism of hands, Conductive hearing impairment, Stapes ankylosis, Aplasia/Hypoplasi... OMIM:185800
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foo... OMIM:601812
Weaver Syndrome
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Retrognathia, Fine hair, Joi... ORPHA:3447
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tars... OMIM:618469
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velo... OMIM:609260
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Hypophosph... ORPHA:289157
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Thin eyebrow, Micrognathia, Mitral valve prolapse, Generalized join... OMIM:618000
Sialidosis Type 2
Ataxia, Nephropathy, Pectus carinatum, Short thorax, Abnormal macular morphology, Splenomegaly, C... ORPHA:87876
Fibrochondrogenesis 1
Thin ribs, Small hand, Hypoplastic scapulae, Joint contracture of the hand, Megalocornea, Broad l... OMIM:228520
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Scapular winging... OMIM:613507
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hypophosphatemia, Rickets, B... OMIM:600081
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Hepatosplenomegaly, Pancytopenia, Genu valgum, Mitral regurgit... ORPHA:309282
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia, Corneal opacity ORPHA:1980
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Short nec... ORPHA:1830
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal... ORPHA:2631
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, Sandal gap, Elbow flexi... OMIM:619040
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Abnormality of the uret... ORPHA:3027
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... OMIM:260400
3M Syndrome
Thin ribs, Short neck, Hypoplastic ischia, Hypospadias, Abnormality of the elbow, Delayed skeleta... ORPHA:2616
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Talipes equinovarus, Short ... OMIM:611209
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Small hand, Narrow palm, Polyphagia, Hypopigmentation of hair, Short foot,... ORPHA:177910
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Optic atrophy, Joint hypermobility, Wormian bones, Brachydactyly,... ORPHA:2787
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... OMIM:271665
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Abnormality of the ureter, Genu valgum, Mi... ORPHA:800
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Noonan Syndrome 12
Spinal canal stenosis, Tetralogy of Fallot, Lymphopenia, 11 pairs of ribs, Supravalvular aortic s... OMIM:618624
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Hepatitis, Abnormal hip bone morphology, Epiphyseal... ORPHA:584
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Cherry red spot of the macula, Splenomegaly, Flared iliac ... OMIM:230650
Babesiosis
Hepatic failure, Depression, Limitation of joint mobility, Congestive heart failure, Leukopenia, ... ORPHA:108
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Talipes equinovarus, Short neck, Neutropeni... OMIM:242900
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Pinguecula, Hematuria, Cirrhosis, Anorexia, Hepa... ORPHA:77259
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... OMIM:614524
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Vertebral wedging, Thoracic hypop... OMIM:617866
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Abnormal optic disc mo... ORPHA:363417
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Acute he... ORPHA:2092
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl... ORPHA:373
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Finger clinodactyly, Abnormal fundus morphology, Supernumerary ribs, Patellar sublu... ORPHA:2958
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Congenital Myopathy 24
Nemaline bodies, Type 1 muscle fiber predominance, Talipes equinovarus, Scapular winging, Gowers ... OMIM:617336
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Narrow chest, Finger syndactyly, Abnormal diaphysis m... ORPHA:1515
Central Core Disease
Nemaline bodies, Congenital hip dislocation, Type 1 muscle fiber predominance, Multiple joint con... ORPHA:597
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, S... OMIM:118100
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... OMIM:224300
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... ORPHA:3319
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... OMIM:618395
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Increased variability in muscle fiber diameter, Dystonia, Increased intramyocellul... OMIM:619065
Banki Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach... ORPHA:1228
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Progressive distal mu... ORPHA:397744
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Renal phosphate wasting, Difficulty walking, Fibular bowing, Hyp... OMIM:241530
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla... ORPHA:313855
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Recurrent fractures, Micrognathia, Hydronephrosis, Wr... OMIM:609465
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Incontinentia Pigmenti
Finger syndactyly, Supernumerary nipple, Abnormal hair morphology, Abnormal hand morphology, Reti... ORPHA:464
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased laxity of fingers, ... OMIM:254090
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Dentinogenesis imperfecta, Ver... OMIM:610967
Recessive Mitochondrial Ataxia Syndrome
Sensory axonal neuropathy, Limb dysmetria, Dysmetria, Gait disturbance, Ataxia, ST segment elevat... ORPHA:94125
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Difficulty walking, Overlapping toe, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, S... ORPHA:457395
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Genu valgum, Facial diplegia, Fo... ORPHA:171436
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Fatigable weakness of skeletal muscles, Reduced muscle fiber al... ORPHA:370968
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Micrognathia, Retinopathy, Thoracic scoliosis, Lumbar scoli... OMIM:616171
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi... OMIM:600920
Postsynaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... ORPHA:98913
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ... ORPHA:1486
Congenital Sialidosis Type 2
Ataxia, Cataract, Optic atrophy, Abnormal EKG, Abnormal heart morphology, Cherry red spot of the ... ORPHA:93400
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Depression, Genu valgum, Astigmatism, Patellar subluxation, Calcium oxalate nephro... OMIM:248000
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Cousin Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short long bone, Short foot, Short phal... OMIM:102370
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Ragged-red muscle fibers, Myopathy OMIM:545000
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Pseudobulbar paralysis, Abnormal fear-induced behavior, Abnormal digit morph... ORPHA:208441
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Musc... ORPHA:263494
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hir... ORPHA:317
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... OMIM:100800
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Optic nerve hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, Horses... OMIM:609053
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Endocardial fibroelastosis, Micrognathia, Ventri... ORPHA:99776
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Talipes equinovarus, Pro... OMIM:151800
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec... OMIM:184095
Hypophosphatasia
Narrow chest, Hypercalcemia, Irritability, Bowing of the long bones, Abnormal rib morphology, Ane... ORPHA:436
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Abnormal epiphysis morphology, Delayed skeletal maturation, Enamel hypoplasia, Brachyda... ORPHA:2643
Stuve-Wiedemann Syndrome 1
Thin ribs, Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long ... OMIM:601559
Mosaic Trisomy 20
Craniofacial asymmetry, Narrow chest, Clinodactyly, Retrognathia, Spinal canal stenosis, Horsesho... ORPHA:1724
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Ventricular septal ... ORPHA:2710
Limb-Mammary Syndrome
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly OMIM:603543
Marinesco-Sjögren Syndrome
Ataxia, Cataract, Pectus carinatum, Optic atrophy, Avascular necrosis of the capital femoral epip... ORPHA:559
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Leukocytosis, Cerebral ischemia, ST segment... ORPHA:90065
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... ORPHA:1436
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormal epiphysis morphology, Slender long bone, Wrist swelling, Camptodactyly of finger, Metaca... ORPHA:2774
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Dystrophic toenail,... ORPHA:970
Alagille Syndrome
Keratoconus, Cholestasis, Abnormality of the ureter, Micrognathia, Ventricular septal defect, Atr... ORPHA:52
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Genu valgum, Mitral stenosis, Spondylolisthesis, Ret... OMIM:607016
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... ORPHA:66529
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Quadriceps musc... OMIM:620285
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Codas Syndrome
Cataract, Abnormal pelvic girdle bone morphology, Congenital hip dislocation, Abnormal epiphysis ... ORPHA:1458
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal spleen morphology, Abnormal pelv... ORPHA:464329
Merrf
Short stature, Ragged-red muscle fibers, Myopathy ORPHA:551
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Micrognathia, Ventricular septal defect, Low posterior hairline, Talipes equino... OMIM:194190
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Cardiofaciocutaneous Syndrome
Genu valgum, Low posterior hairline, Short neck, Atrial septal defect, Brittle hair, Sparse hair,... ORPHA:1340
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Breast aplasia, Absent hand, Aplasia/Hypopla... ORPHA:570
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ... ORPHA:2251
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Micrognathia, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Low posterio... OMIM:616549
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Ataxia, Progressive cerebellar ataxia, Corneal dystrophy, Corneal opacity ORPHA:3177
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Cataract, Sparse hair, Alopecia, Coarse hair, Corneal neovascularization, Nail dys... OMIM:158310
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Retrognathia, Gait ataxia, Arachnodactyly, Syndactyly, Ataxia, Pectus excavatum, Mo... OMIM:619092
Rubinstein-Taybi Syndrome 2
Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux, Dental maloccl... OMIM:613684
Craniofrontonasal Dysplasia
Hypospadias, Scoliosis, Abnormal clavicle morphology, Finger syndactyly, Sandal gap, Camptodactyl... ORPHA:1520
Holzgreve Syndrome
Abnormal mesentery morphology, Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Ab... ORPHA:2167
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hypoplastic iliac wing, Jaundice, Foot polydactyly, Bile duct proliferati... OMIM:208500
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Metaphyseal dysplasia, Broad phalanx, Short foot, Genu varum... OMIM:250420
Cohen Syndrome
Finger syndactyly, Genu valgum, Micrognathia, Mitral valve prolapse, Ventricular septal defect, A... ORPHA:193
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of... OMIM:607015
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Coarse metaphyseal trabecularization, Joint dislocation, Abnormal form of the vertebral... ORPHA:93160
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Ophthalmoplegia, Respiratory insuffic... OMIM:607855
Duane Retraction Syndrome
Chorioretinal coloboma, Micrognathia, Low posterior hairline, Talipes equinovarus, Aplasia/Hypopl... ORPHA:233
Grange Syndrome
Short palm, Syndactyly ORPHA:79094
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Sensory axonal neuropathy, Hand muscle weakness, Restless legs, Upper limb pain, T... ORPHA:99947
Fabry Disease
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Anorexia, Nephrotic syndrome, Cataract,... ORPHA:324
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Kbg Syndrome
Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Ulnar deviation of the 2n... OMIM:148050
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Gait imbalance, Renal insufficiency, Astigmatism, Vesicoureteral reflux, Ven... OMIM:617159
Trisomy 13
Abnormality of the ureter, Bilateral single transverse palmar creases, Ventricular septal defect,... ORPHA:3378
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Narrow chest, High anterior h... OMIM:618853
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Short finger, Abnormal heart morphology, Nail dystrophy, Congenital... ORPHA:1867
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Recurrent fractures, Bowing of limbs ... OMIM:259440
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Microcephalic Primordial Dwarfism, Dauber Type
Madelung deformity, Primary amenorrhea, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th ... ORPHA:319675
Distal Deletion 6P
Self-injurious behavior, Abnormal epiphysis morphology, Hypoplasia of the iris, Ectopia pupillae,... ORPHA:96125
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Retrognathia, Knee dislocation, Small epiphyse... OMIM:620269
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormal hand morphology, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve... ORPHA:371428
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Small hand, Elevated circulating hepatic transaminase concentration, O... OMIM:608799
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Farber Disease
Cherry red spot of the macula, Hepatosplenomegaly, Abnormality of the knee, Abnormality of the el... ORPHA:333
Overlap Myositis
Proximal muscle weakness in upper limbs, Finger swelling, Rheumatoid arthritis, Elevated circulat... ORPHA:206572
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Horizontal eyebrow, Clinodactyly, Abnormal heart morphology, Fr... ORPHA:369891
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, Short foot, Short met... OMIM:170390
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Optic atrophy, Proximal tubulopathy, Elevated circulating hepatic tran... OMIM:614576
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Abnormal tibia morphology, ... ORPHA:2496
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Absent eyelashes, Absent eyebrow, Atrial septal defect, Unilateral ... OMIM:308205
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Bartsocas-Papas Syndrome
Synostosis of joints, Toe syndactyly, Popliteal pterygium, Absent thumb, Finger syndactyly, Alope... ORPHA:1234
Hypomelanosis Of Ito
Cataract, Alopecia, Clinodactyly, Radial deviation of finger, Hand polydactyly, Scoliosis, Iris c... OMIM:300337
Lethal Faciocardiomelic Dysplasia
Hypoplastic left heart, Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap... ORPHA:1972
Warburg Micro Syndrome 1
Optic atrophy, Microcornea, Facial hypertrichosis, Hypertrichosis, Overlapping toe, Micrognathia,... OMIM:600118
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Atrial septal def... ORPHA:84
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Wilson Disease
Kayser-Fleischer ring, Difficulty walking, Acute hepatic failure, Hepatic steatosis, Cirrhosis, A... ORPHA:905
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice ORPHA:615
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Ventricular septal def... ORPHA:79345
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Hypoplasia of the odonto... OMIM:226980
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Abnormal mitral valve morphology, Large hands, Short metacarpal, Self-... ORPHA:192
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga OMIM:132450
Shox-Related Short Stature
Genu valgum, Tibial bowing, Madelung deformity, Ulnar radial head dislocation, Cubitus valgus, Lo... ORPHA:314795
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Retrognathia, Bruxism, Retinopathy, Self-mutilation, Lumbar kyphoscoliosis, Pectus... OMIM:619422
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Bowing of the long bones, Osteopenia, Thora... OMIM:613848
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormal heart valve morphology, Broad ribs, Joint stiffness, Genu valgum, ... ORPHA:583
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Micrognathia, Hyperbilirubinemia,... OMIM:259720
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hyper... OMIM:261740
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Micrognathia, Sparse or absent eyelas... ORPHA:1794
Cofs Syndrome
Cataract, Optic atrophy, Camptodactyly of finger, Joint stiffness, Micrognathia, Abnormality of r... ORPHA:1466
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Carious teeth, Delayed skeletal maturation, Delayed cranial suture closure... ORPHA:93324
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Warburg-Cinotti Syndrome
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Corneal neovascularization, L... OMIM:618175
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Tip-toe gait, Limited... ORPHA:268
Tbck-Related Intellectual Disability Syndrome
Clinodactyly, Ventricular septal defect, Short neck, Broad toe, Delayed skeletal maturation, Inab... ORPHA:488632
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... OMIM:605432
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Osteopenia, Unilateral renal agenesis, Delayed cranial suture closure, Os o... OMIM:616603
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Osteopenia, Thin metatarsal cortices, Small hypothenar eminence, Thin metac... ORPHA:2463
Renpenning Syndrome
Cataract, Mandibular prognathia, Hypospadias, Alopecia, Abnormal hairshaft morphology, Thin eyebr... ORPHA:3242
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Micrognathia, Bowing of limbs ... OMIM:259420
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microcornea, Corneal opacity ORPHA:2432
Mucopolysaccharidosis Type 2
Limitation of joint mobility, Abnormal mitral valve morphology, Arrhythmia, Hepatomegaly, Motor s... ORPHA:580
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Palm... OMIM:226670
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Genu valgum, Sensorineural he... OMIM:608154
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Atrioventricular block, Cone-shaped epiphysis, Narrow chest, Abnormal scapula morp... ORPHA:93317
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Hand clenching, Optic atrophy, Micrognathia, Short neck, Rocker bottom foot, Arthrogryposis multi... OMIM:618766
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowing of the l... ORPHA:3035
Cri-Du-Chat Syndrome
Premature graying of hair, Difficulty walking, Overfriendliness, Short neck, Hypospadias, Motor s... OMIM:123450
Prune1-Related Neurological Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Inability to walk, Micrognathia, Retinopath... ORPHA:544469
Juvenile Paget Disease
Pectus carinatum, Optic atrophy, Coarse metaphyseal trabecularization, Abnormal clavicle morpholo... ORPHA:2801
Cohen Syndrome
Genu valgum, Micrognathia, Mitral valve prolapse, Narrow palm, Neutropenia, Short metacarpal, Hyp... OMIM:216550
Distal Symphalangism
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Camptodactyly of f... ORPHA:3248
Shashi-Pena Syndrome
Unilateral renal agenesis, Highly arched eyebrow, Kyphosis, Retrognathia, Hypertrichosis, Long ey... OMIM:617190
Mosaic Trisomy 8
Narrow chest, Limitation of joint mobility, Arthrogryposis multiplex congenita, Abnormal rib morp... ORPHA:96061
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Tremor, Intrin... ORPHA:329478
Fetal Akinesia Deformation Sequence 3
Micrognathia, Generalized edema, Overlapping fingers, Rocker bottom foot OMIM:618389
Osteogenesis Imperfecta, Type Xiii
Arachnodactyly, Generalized hirsutism, Dislocated radial head, Pectus carinatum, Wide distal femo... OMIM:614856
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ... OMIM:615777
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hypertension, Thrombocytopenia OMIM:166990
X-Linked Hypophosphatemia
Renal phosphate wasting, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Too... ORPHA:89936
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibul... ORPHA:958
Abruzzo-Erickson Syndrome
Hypospadias, Microcornea, Toe syndactyly, Ulnar deviation of finger, Short toe, Chorioretinal col... ORPHA:921
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Short thorax, Abnormal odontoid process morphology, Bell-shaped thorax, Situs in... OMIM:613686
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Limitation of joint mobility, ... ORPHA:93476
Symptomatic Form Of Hfe-Related Hemochromatosis
Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Hepatomegaly, Chronic hepatic failure, A... ORPHA:465508
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Joint contracture of the hand, Clinodactyly, Short thumb, Micrognathia, Fr... OMIM:600325
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Alopecia, Rickets, Bulging epiphyses, Rickets of the lower limbs... OMIM:600785
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatars... OMIM:605282
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Neuraminidase Deficiency
Cataract, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Cherry red spot of th... OMIM:256550
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Broad thumb, Coarse hair, Joint stiffness, Thick eyebrow, Splenomegaly, ... ORPHA:585
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... ORPHA:2831
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Oligohydramnios, Micrognathia, Abnormal antihelix morphology, Mala... ORPHA:2145
Classic Multiminicore Myopathy
Poor head control, Muscular dystrophy, Muscle fiber atrophy, Intermittent episodes of respiratory... ORPHA:324604
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Single transverse palmar... ORPHA:178148
Odontochondrodysplasia 1
Mesomelia, Dentinogenesis imperfecta, Metaphyseal cupping, Genu recurvatum, Micromelia, Delayed e... OMIM:184260
Robinow Syndrome
Multicystic kidney dysplasia, Micrognathia, Marked delay in eruption of permanent teeth, Ventricu... ORPHA:97360
Melnick-Needles Syndrome
Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathia, Mitral valve pro... OMIM:309350
Familial Osteodysplasia, Anderson Type
Carious teeth, Elbow dislocation, Aplasia/hypoplasia of the femur, Increased susceptibility to fr... ORPHA:2769
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy, Self-mutilation, Aggressive behavior, Dysphagia, Rest... OMIM:615075
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Micrognathia, Bilateral single transverse palmar creases, ... ORPHA:1703
Rothmund-Thomson Syndrome Type 1
Carious teeth, Aplastic anemia, Alopecia totalis, Patellar aplasia, Telangiectasia, Neutropenia, ... ORPHA:221008
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Megalocornea, Micrognathia, Arachnodactyly, Talipes equinovarus, L... ORPHA:280
Refsum Disease, Classic
Cataract, Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentrat... OMIM:266500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Marshall Syndrome
Radial bowing, Micrognathia, Knee osteoarthritis, Absent frontal sinuses, Retinal detachment, Sma... OMIM:154780
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h... OMIM:602471
Zellweger Syndrome
Cataract, Multicystic kidney dysplasia, Hepatic failure, Optic atrophy, Epiphyseal stippling, Mic... ORPHA:912
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Joint contracture of the hand, Pigmentary retinopathy, Abnormal heart mo... OMIM:214110
Sialidosis Type 1
Ataxia, Cataract, Aminoaciduria, Pectus carinatum, Abnormal form of the vertebral bodies, Delayed... ORPHA:812
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Micromelia, Abnormal rib morphology, Micrognathia... ORPHA:93298
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move... ORPHA:94068
Short Syndrome
Alopecia, Abnormal mandible morphology, Hypoplasia of the iris, Megalocornea, Abnormal dental ena... ORPHA:3163
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia, Massively th... ORPHA:1798
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Proximal muscle weakness, Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Cornelia De Lange Syndrome 1
Micrognathia, Ventricular septal defect, Low posterior hairline, Short neck, Dislocated radial he... OMIM:122470
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Cardiomegaly, Enamel hypoplasia, Sparse hair, Syndactyly OMIM:613576
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Optic... OMIM:169550
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Synostoses, Tarsal, Carpal, And Digital
Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy... OMIM:186400
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Pentasomy X
Small hand, Camptodactyly of finger, Micrognathia, Radioulnar synostosis, Abnormal cardiac septum... ORPHA:11
Braddock-Carey Syndrome 1
Small hand, Multicystic kidney dysplasia, Clinodactyly, Aortic valve prolapse, Ventricular septal... OMIM:619980
Specific Granule Deficiency 2
Osteopenia, Sandal gap, Hirsutism, Absent neutrophil specific granules, Amelogenesis imperfecta, ... OMIM:617475
Kury-Isidor Syndrome
Exudative vitreoretinopathy, Alopecia, Scoliosis, Finger syndactyly, Hypertrichosis, Astigmatism,... OMIM:619762
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t... ORPHA:3103
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Chorioretinal coloboma, Micrognathia, Abnormal mitral v... ORPHA:7
Attrv30M Amyloidosis
Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology ORPHA:85447
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Micrognathia, Ventricular sep... OMIM:220210
Shwachman-Diamond Syndrome
Carious teeth, Aplastic anemia, Abnormal joint morphology, Pancytopenia, Increased serum bile aci... ORPHA:811
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxia... OMIM:615633
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Eruption failure, Long hallux,... OMIM:600002
Rothmund-Thomson Syndrome Type 2
Carious teeth, Aplastic anemia, Alopecia totalis, Patellar aplasia, Aplasia/hypoplasia involving ... ORPHA:221016
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Platyspondyly, Aortic regurgitation, Broad clavicles, Irregular acetabular... OMIM:619698
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Diamond-Blackfan Anemia 21
Aortic regurgitation, Coarse hair, Secundum atrial septal defect, Short toe, Sandal gap, Preaxial... OMIM:620072
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu... OMIM:619598
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Malar flatte... ORPHA:1488
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, C... OMIM:112350
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Bartsocas-Papas Syndrome 2
Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Absent distal phalanges, 2-5 f... OMIM:619339
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Alopecia, Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia, Kyphoscolios... OMIM:163200
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ... ORPHA:217085
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hand clenching, Elbow dislocation, Arachnodactyly, Radial head subluxation, Ataxia, Optic disc pa... OMIM:620083
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature, Proximal muscle weaknes... OMIM:618416
Aicardi Syndrome
Optic atrophy, Block vertebrae, Small hand, Sparse lateral eyebrow, Chorioretinal coloboma, Optic... ORPHA:50
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Dental malocclusion, Widow's peak, Down-sloping shoulders, Pollakis... OMIM:227330
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, Elevated 8-dehydrocholes... OMIM:308050
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, White forelock, Joint hypermobility, Spina bifida... ORPHA:2475
Scorpion Envenomation
Premature ventricular contraction, Arrhythmia, Ataxia, Tachycardia, Restlessness, Acute kidney in... ORPHA:466677
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Lymphopenia, Sparse eyelashes, Narrow vertebral interpedicula... OMIM:250250
Sclerosteosis 1
Broad clavicles, Abnormal pelvic girdle bone morphology, Optic atrophy, Deviation of finger, Dent... OMIM:269500
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused... OMIM:309620
Saul-Wilson Syndrome
Platyspondyly, Cataract, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypo... OMIM:618150
Bone Marrow Failure Syndrome 3
Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Acute myeloid leukemia,... OMIM:617052
Williams Syndrome
Synostosis of joints, Carious teeth, Megalocornea, Genu valgum, Micrognathia, Mitral regurgitatio... ORPHA:904
Peroxisome Biogenesis Disorder 1A (Zellweger)
Micrognathia, Bell-shaped thorax, Ventricular septal defect, Loss of ambulation, Talipes equinova... OMIM:214100
Brachydactyly-Preaxial Hallux Varus Syndrome
Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Brachydactyly, Short meta... ORPHA:1278
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Short stature, Macroglossia, Muscle weakness, Skeletal muscle hypertrophy ORPHA:2349
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, S... ORPHA:1106
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Bell-shaped thorax, Mala... OMIM:614592
Pfeiffer Syndrome Type 1
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... ORPHA:93258
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Optic atrophy, Coarse metaphyseal trabecularization, De... ORPHA:1782
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Limitation of joint mobility, Hepatosplenomegaly, Abnormal mitral ... ORPHA:217093
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Cataract, Micromelia, Ventricular septal defect, Decreased calvarial ossi... ORPHA:2772
Bcard Syndrome
Platyspondyly, Cataract, Osteopenia, Coarse hair, Contracture of the proximal interphalangeal joi... OMIM:612394
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Bowing of the long bones, Flat acetabular roof, Sparse hair, Hypospadias, P... OMIM:614091
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb ORPHA:1825
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sandwich appearance of vertebral b... ORPHA:210110
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... OMIM:122600
De Barsy Syndrome
Sparse hair, Cataract, Congenital hip dislocation, Osteopenia, Abnormal fundus fluorescein angiog... ORPHA:2962
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Ventricular septal def... OMIM:105650
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Protruding ear, H... ORPHA:2256
Bardet-Biedl Syndrome 9
Cataract, Postaxial foot polydactyly, Polydipsia, Attenuation of retinal blood vessels, Renal ins... OMIM:615986
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Decreased calvarial ossif... OMIM:616229
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f... OMIM:616738
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... ORPHA:52430
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc... OMIM:608836
Wolfram Syndrome 1
Cataract, Optic atrophy, Pigmentary retinopathy, Hydroureter, Limited mobility of proximal interp... OMIM:222300
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Scoliosis, Ectopia lentis, Short thumb, Delayed eruption of teeth, Highly ... ORPHA:2712
Rothmund-Thomson Syndrome
Carious teeth, Aplastic anemia, Alopecia totalis, Aplasia/Hypoplasia of the patella, Sparse eyela... ORPHA:2909
Hamamy Syndrome
Hypochromic anemia, Microcytic anemia, Micrognathia, Mitral regurgitation, Sparse eyelashes, Low ... OMIM:611174
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Carious teeth, Osteomalacia, Genu valgum, Micrognathia, Hematuria, Hypophosphatemia,... ORPHA:534
Laurence-Moon Syndrome
Cataract, Finger syndactyly, Renal insufficiency, Bilateral single transverse palmar creases, Con... ORPHA:2377
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Short 1st metacarpal, Chorioretinal coloboma, Atrioventricular canal defec... OMIM:619135
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Clinodactyly, Hyperactivity OMIM:300928
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt... ORPHA:2876
Epidermolysis Bullosa, Lethal Acantholytic
Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ... OMIM:609638
Cole-Carpenter Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental ename... ORPHA:2050
Seckel Syndrome 1
Ivory epiphyses, Hypospadias, Hip dislocation, Dental malocclusion, Sandal gap, Delayed skeletal ... OMIM:210600
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Abnormal form of the vertebral bodies, Sandal gap, Abnormal dental enamel ... ORPHA:2180
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Difficulty walking, Overlapping t... ORPHA:464738
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Fatiguable weakness o... ORPHA:171881
19P13.12 Microdeletion Syndrome
Finger syndactyly, Mitral regurgitation, Hepatic steatosis, Ventricular septal defect, Generalize... ORPHA:254346
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Firm muscles, Irregular femoral epiphysis, Genu valgum, Short stature, Skeletal muscle hypertrophy OMIM:255710
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Postaxial polydactyly, B... OMIM:614500
Pelger-Huet Anomaly
Giant platelets, Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Ventricular ... OMIM:169400
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Elbow flexion contracture, Palpitations, Knee flexion cont... OMIM:310300
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:208085
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Abnormality of ... OMIM:123000
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of... OMIM:602849
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Hearin... OMIM:620099
Gitelman Syndrome
Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis, Prolonged PR interv... ORPHA:358
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Carious teeth, Slender long bone, Delayed skeletal maturation, Hypomagnese... OMIM:244460
Chime Syndrome
Sparse hair, Aplasia/Hypoplasia of the phalanges of the toes, Acute leukemia, Clubbing of toes, A... ORPHA:3474
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Microphthalmia, Lenz Type
Self-injurious behavior, Cataract, Microcornea, Hypospadias, Hydroureter, Finger syndactyly, Dela... ORPHA:568
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... ORPHA:1120
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Abnormal pelvic girdle bone morphology, Finger syndactyly, Atresia of the external ... ORPHA:3429
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Optic disc pall... ORPHA:464306
Juvenile Sialidosis Type 2
Ataxia, Cataract, Optic atrophy, Visceromegaly, Abnormal form of the vertebral bodies, Cherry red... ORPHA:93399
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Hearing impairment, Flared ... ORPHA:93346
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Alopecia, Finger syndactyly, Abnormal... ORPHA:1647
Acrootoocular Syndrome
Micrognathia, Small thenar eminence, Short foot, Short metacarpal, Short toe, Delayed skeletal ma... ORPHA:2980
Hypophosphatasia, Infantile
Unossified vertebral bodies, Elevated plasma pyrophosphate, Vertebral clefting, Anorexia, Increas... OMIM:241500
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short femoral neck, Flared metaphysis, Short palm, Bowing of the legs, Aplasia/Hypoplasia of meta... ORPHA:2502
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ... OMIM:217085
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung ... ORPHA:1765
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia, Adducted thumb, Developmental cataract OMIM:601815
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Toe syndactyly, Amelia, Testicular atrophy, Clinodactyly of the 5th finger, Syndactyly OMIM:601163
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... OMIM:610915
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the... ORPHA:1834
Aicardi Syndrome
Cataract, Block vertebrae, Optic atrophy, Sparse lateral eyebrow, Optic disc coloboma, Butterfly ... OMIM:304050
Andersen-Tawil Syndrome
Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectiona... ORPHA:37553
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Bowing of the long b... ORPHA:50945
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ventricular septal defect, Flexion contracture of finger, Retinal detachme... ORPHA:464311
Multiple Sulfatase Deficiency
Ataxia, Broad thumb, Broad hallux, Peripheral demyelination, Splenomegaly, Retinal degeneration, ... OMIM:272200
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Long eyelashes, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hyperm... OMIM:617952
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... ORPHA:2307
Acheiropody
Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Chromosome 6Pter-P24 Deletion Syndrome
Frontal upsweep of hair, Axenfeld anomaly, Ventricular septal defect, Telangiectasia, Posterior e... OMIM:612582
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, Kyphosis, Tracheomalacia, 11 pairs of ribs, Femor... ORPHA:140
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fiber atrophy, Ra... OMIM:258450
Smith-Mccort Dysplasia 2
Broad femoral neck, Genu valgum, Enlarged interphalangeal joints, Limited elbow extension, Promin... OMIM:615222
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Myopathy, Calf muscle hypertrophy, Gowers sign, P... ORPHA:119
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Cataract, Toe syndactyly, Finger syndactyly, Preaxial polydactyly,... ORPHA:64754
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intestinal bleeding, Premature graying of hair, Genu valgum, Bowing of the long bones, Ataxia, Sp... OMIM:612199
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... OMIM:616816
Adams-Oliver Syndrome
Cataract, Short distal phalanx of finger, Gastrointestinal hemorrhage, Alopecia, Finger syndactyl... ORPHA:974
Arthrogryposis, Distal, Type 3
Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Talipes equinovarus, Short neck, Thor... OMIM:114300
Autosomal Recessive Omodysplasia
Low-set ears, Rhizomelia, Elbow dislocation, Micromelia, Pterygium, Abnormal femur morphology, In... ORPHA:93329
Lowry-Maclean Syndrome
Generalized hypertrichosis, Osteopenia, Hypoplasia of the maxilla, Talon cusp, Hypospadias, Retro... ORPHA:2409
Hajdu-Cheney Syndrome
Aortic valve stenosis, Micrognathia, Ventricular septal defect, Bowing of the long bones, Decreas... ORPHA:955
Lethal Congenital Contracture Syndrome 10
Narrow chest, Stiff neck, Broad ribs, Overlapping fingers, Femoral bowing, Micrognathia, Ventricu... OMIM:617022
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared m... OMIM:269300
Filippi Syndrome
Optic atrophy, 2-4 toe syndactyly, Finger clinodactyly, Hypertrichosis, Serrated incisors, Single... OMIM:272440
Congenital Syphilis
Cataract, Periostitis, Nephrotic syndrome, Keratitis, Optic atrophy, Extramedullary hematopoiesis... ORPHA:499009
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... OMIM:300863
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Bilateral talipe... OMIM:306955
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Polycystic kidney dysplasia, Cone-shaped epiphysis, Thoracic hypoplasia, Fem... OMIM:613091
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Delayed skeletal maturation, Abnormal denta... ORPHA:2323
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Highly arched eyebrow, Small hand, Dilated cardiomyopathy, Cervical kyphosi... ORPHA:401923
Pycnodysostosis
Aplastic clavicle, Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Delayed eru... OMIM:265800
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Takenouchi-Kosaki Syndrome
Ataxia, Hypospadias, Unilateral renal agenesis, Sparse eyebrow, Dental malocclusion, Clinodactyly... OMIM:616737
Cranioectodermal Dysplasia 1
Chronic kidney disease, Clinodactyly, Bicuspid aortic valve, Broad distal phalanges of all finger... OMIM:218330
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Lymphopenia, Pancytopenia, Micrognathia, Ventricular septal defect, Bicu... OMIM:620654
Hypokalemic Periodic Paralysis
Episodic flaccid weakness, Respiratory paralysis, Increased intramyocellular lipid droplets, Abno... ORPHA:681
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, Hepatic... ORPHA:1692
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Gorham-Stout Disease
Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Path... ORPHA:73
Gómez-López-Hernández Syndrome
Ataxia, Alopecia of scalp, Corneal opacity ORPHA:1532
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hydronephrosis, Hyp... OMIM:602418
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Dilated cardiomyopathy, Increased mean corpuscular volume, Micrognathia, A... ORPHA:261250
Nestor-Guillermo Progeria Syndrome
Thin ribs, Micrognathia, Mitral regurgitation, Limited elbow movement, Sparse eyelashes, Right at... OMIM:614008
Occipital Horn Syndrome
Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Cholestasis, Humerus varus, G... ORPHA:198
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Pectus carinatum, Erlenmeyer flask deformity of the femu... OMIM:618476
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Erlenmeyer flask deformity of the femurs, Pathologic fracture, ... OMIM:230800
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Developmental cataract, Corneal... OMIM:618815
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Rhizomelia, Broad thumb, Delayed skeletal maturation, Short 5th metacarpal, Femora... OMIM:619638
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Organic aciduria, Kyphoscoliosis, Aggressive behavior, Split hand, Dysphagia, Atax... OMIM:614707
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... OMIM:300554
Achondrogenesis Type 1A
Narrow chest, Micromelia, Abnormal enchondral ossification, Micrognathia, Multiple rib fractures,... ORPHA:93299
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh... OMIM:602557
Mycetoma
Abnormal form of the vertebral bodies, Abnormal forearm bone morphology, Painless fractures due t... ORPHA:2583
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis,... OMIM:101800
Garg-Mishra Progeroid Syndrome
Platyspondyly, Thin ribs, Narrow chest, Sparse hair, Slender long bone, Persistent open anterior ... OMIM:620601
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Broad-based gait, Micrognathia, Emotional lability, Ventricular septal d... ORPHA:251028
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathia, Mitral valv... ORPHA:536467
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Mandibular prognathia, Clinodactyly, Retrognathia, Inability to walk, Tricuspid re... OMIM:619576
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Hepatosplenomegaly, Micrognathia, Mitral regurgitation, Ventricular septal defect, T... OMIM:614866
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Multicystic kidney dysplasia, Elbow dislocation, Micrognathia, Bilate... ORPHA:199
Apert Syndrome
Optic atrophy, Hypoplasia of the maxilla, Broad thumb, Toe syndactyly, Finger syndactyly, Microme... ORPHA:87
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Broad thumb, Hypertrophic cardiomyopathy, Micrognathia, Optic disc pallor ORPHA:3173
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Dystonia, Athetosis, Ragged-red muscle fibers OMIM:615159
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Chorioretinal dysplasia, A... OMIM:152950
Chondrodysplasia Punctata 2, X-Linked Dominant
Stippled calcification in carpal bones, Sparse eyelashes, Short neck, Patellar dislocation, Bilat... OMIM:302960
Antley-Bixler Syndrome
Narrow chest, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Delayed cranial suture c... ORPHA:83
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Microretrognathia, Limitation of joint mobility, Finger syndactyl... ORPHA:2994
Infantile Refsum Disease
Cataract, Optic atrophy, Abnormal epiphysis morphology, Cardiomyopathy, Elevated circulating phyt... ORPHA:772
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibular dystonia... OMIM:602124
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, A... ORPHA:2311
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Retrognathia, Prominent fingertip pads, Slow-growing hair, Compulsive behaviors, O... OMIM:615722
Campomelia, Cumming Type
Clubbing of toes, Multicystic kidney dysplasia, Micromelia, Abnormal thorax morphology, Bowing of... ORPHA:1318
Prolidase Deficiency
Carious teeth, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Abnormal hip bone morp... ORPHA:742
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly OMIM:609428
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Sheldon-Hall Syndrome
Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Overla... ORPHA:1147
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Horizonta... OMIM:617895
Lateral Meningocele Syndrome
Coarse hair, Sclerosis of skull base, Micrognathia, Malar flattening, Biconcave vertebral bodies,... OMIM:130720
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Difficulty walking, Mitral regurgitation, Short neck, Ovoid thoracolumbar v... OMIM:252940
Ulnar-Mammary Syndrome
Ventricular septal defect, Arrhythmia, Abnormal metacarpal morphology, Sprengel anomaly, Aplasia/... ORPHA:3138
Lathosterolosis
Cataract, Microcornea, Toe syndactyly, Postaxial foot polydactyly, Intrahepatic cholestasis, Hepa... ORPHA:46059
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos... ORPHA:93352
Cat-Eye Syndrome
Chorioretinal coloboma, Hydronephrosis, Abnormal rib morphology, Hip dysplasia, Iris coloboma ORPHA:195
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha... OMIM:184460
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Gaucher Disease
Aortic valve calcification, Decreased HDL cholesterol concentration, Cherry red spot of the macul... ORPHA:355
Steel Syndrome
Carpal synostosis, Limited elbow extension, Sensorineural hearing impairment, Coxa vara, Clinodac... OMIM:615155
Codas Syndrome
Hypoplasia of the odontoid process, Genu valgum, Ventricular septal defect, Lumbar scoliosis, Atr... OMIM:600373
Autosomal Recessive Progressive External Ophthalmoplegia
External ophthalmoplegia, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, M... ORPHA:254886
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept... OMIM:601005
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Atax... OMIM:278730
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Broad thumb, Broad hallux, Delayed skeletal maturation, Microcytic anemia,... ORPHA:293967
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartat... OMIM:212140
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Poor head control, Increased variability in muscle fiber diameter OMIM:613752
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Mandibular prognathia, Optic atrophy, Sandal gap, Hypoplasia of the zygomatic bone, Mal... ORPHA:2715
Mucopolysaccharidosis, Type Iiib
Coarse hair, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Hirsutism, Cardio... OMIM:252920
Kagami-Ogata Syndrome
Thin ribs, Hypoplasia of the maxilla, Frontal hirsutism, Retrognathia, Micrognathia, Bell-shaped ... OMIM:608149
Fucosidosis
Cherry red spot of the macula, Barrel-shaped chest, Beaking of vertebral bodies, Absent/hypoplast... OMIM:230000
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Micromelia, Flar... OMIM:187601
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Ventricular septal defe... OMIM:608328
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ... ORPHA:3144
Schizophrenia 1
Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Ragged-red muscle fibers, Dystonia, Ophthalmoplegia, Increased in... OMIM:252011
Eem Syndrome
Carious teeth, Finger syndactyly, Ectrodactyly, Sparse body hair, Retinopathy, Abnormality of ret... ORPHA:1897
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Cataract, Self-injurious behavior, Medial flaring of the eyebrow, Optic atrophy, Long eye... OMIM:619833
Alg8-Cdg
Cataract, Optic atrophy, Elevated circulating hepatic transaminase concentration, Retinopathy, Hy... ORPHA:79325
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Osteopenia, Dilated cardiomyopathy, Retrognathia, Cardiomyopathy, Recurrent shoulder dislocation,... OMIM:212112
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hyperbilir... OMIM:210710
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Delayed skeletal matur... ORPHA:3068
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the ankle, Bilateral conductive hearing impairment, Atresia of the external audito... ORPHA:2010
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Broad clavicles, Delayed eruption of teeth, Congestive heart failure, Rhizomelic arm sh... ORPHA:508542
Gapo Syndrome
Asymmetry of the thorax, Keratoconus, Abnormal pelvic girdle bone morphology, Mandibular prognath... ORPHA:2067
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Narrow chest, Joint dislocation, Abnormal pancreatic duct morphology, ... ORPHA:1190
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Thoracic hypopla... OMIM:187600
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Broad thumb, Scoliosis, Broad hallux, Sacral dimple, Overlapping toe, Micr... ORPHA:435638
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Cataract, Microspherophakia, Broad phalanges of the hand, Ectopia lentis, ... OMIM:277600
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Pfeiffer Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the zygomatic bone, Sho... ORPHA:710
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Optic atrophy, Sea-blue histiocytosis, Joint stiffness, Sp... OMIM:230600
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Ventri... ORPHA:818
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Kyphosis, Hyperphosphatemia, Hydroxyprolinuria, Increased bone mineral density, Retin... OMIM:239000
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m... ORPHA:740
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Mandibular prognathia, Sparse ... ORPHA:1133
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis... ORPHA:93316
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal peripheral nervous system morphology, Hyperbilirubinemia, Hip contracture, Gastrointesti... ORPHA:464321
Alg12-Cdg
Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Overlapping fingers, Mi... ORPHA:79324
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Retrognathia, Micrognathia, Single t... OMIM:227270
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Micrognathia, Aplasia/Hy... ORPHA:235
Intellectual Disability, Buenos-Aires Type
Pectus carinatum, Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumbar vertebral b... ORPHA:3079
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Pectus carinatum, Highly arched eyebrow, Arthrogryposis multiplex... OMIM:618143
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Femoral ... OMIM:207410
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
Waardenburg Syndrome, Type 3
Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly of finger, Cutaneou... OMIM:148820
Myhre Syndrome
Platyspondyly, Cataract, Craniofacial hyperostosis, Hypoplasia of the maxilla, Abnormal epiphysis... ORPHA:2588
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Finger syndactyly, Camptodactyly of finger, Micrognathia, Short ... ORPHA:284160
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Abnormal hair morphology, Astigmatism, Macular dots, Enam... OMIM:270200
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Cardiomegaly, Elevated circulating hepatic transaminase concentration ORPHA:858
Preeclampsia/Eclampsia 1
Proteinuria, Elevated circulating hepatic transaminase concentration, Hypertension, Thrombocytopenia OMIM:189800
Triploidy
Cataract, Hypospadias, Narrow chest, Finger syndactyly, Abnormality of the gallbladder, Micrognat... ORPHA:3376
Prune Belly Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Tetralogy of Fallot, Abnor... ORPHA:2970
Bruck Syndrome 2
Platyspondyly, Osteopenia, Pectus carinatum, Hydroxyprolinuria, Pterygium, Elbow flexion contract... OMIM:609220
Omodysplasia 2
Hypospadias, Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shor... OMIM:164745
Walker-Warburg Syndrome
Cataract, Microcornea, Retinal dysplasia, Optic atrophy, Abnormal optic nerve morphology, Abnorma... ORPHA:899
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,... ORPHA:505248
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Pectus carinatum, Optic atrophy, Delayed skeletal maturation, Delayed cranial suture closure, Hyp... OMIM:619383
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Acrofacial Dysostosis, Palagonia Type
Sparse hair, Small hand, Finger syndactyly, Delayed skeletal maturation, Abnormal form of the ver... ORPHA:1787
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Postaxial foot polydactyly, Conductive hearing impairment, Flared meta... OMIM:252100
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Retrognathia, Micrognathia, Vesicoureteral reflux, Decreased calvar... OMIM:618265
Dermoids Of Cornea
Corneal opacity OMIM:304730
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Retrognathia, Micrognathia, Truncus arteriosus, 2-3 toe syndactyly, Ve... OMIM:617516
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
2-3 toe syndactyly, 3-4 finger syndactyly OMIM:600906
Bohring-Opitz Syndrome
Supernumerary nipple, Overlapping toe, Micrognathia, Ventricular septal defect, Delayed periphera... OMIM:605039
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed erupti... OMIM:225500
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Congenital Insensitivity To Pain With Severe Intellectual Disability
Keratitis, Osteomyelitis, Micrognathia, Tibial bowing, Self-mutilation, Congenital bilateral hip ... ORPHA:453510
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Noonan Syndrome 4
Sparse eyebrow, High anterior hairline, Dental malocclusion, Delayed skeletal maturation, Abnorma... OMIM:610733
Thrombocytopenia, Paris-Trousseau Type
Micrognathia, Clinodactyly, Radial deviation of finger, Thrombocytopenia OMIM:188025
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly ORPHA:1114
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Joint hy... OMIM:616507
Hallermann-Streiff Syndrome
Thin ribs, Natal tooth, Chorioretinal coloboma, Micrognathia, Sparse eyelashes, Telangiectasia, S... OMIM:234100
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Brachydactyly, Short stature, Short... OMIM:600705
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Anorexia, Renal insufficiency, Splenomegaly, Hyperammonemia, Hepat... ORPHA:79312
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Deviation of finger, Joint stiffness, Arachnodactyly, Congenital finger flexion co... ORPHA:1154
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Cinca Syndrome
Abnormality of thrombocytes, Joint dislocation, Abnormal joint morphology, Pseudopapilledema, Leu... ORPHA:1451
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Dent Disease 1
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... OMIM:300009
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra... OMIM:608104
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Low posterior hairline, Carpal bone hypoplasia, Short neck, Ataxia, Advanced ossification of carp... OMIM:610442
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Aminoaciduria, Aortic regurgitation, Clinodactyly, Pulmonary hemorrhage, Decreased platel... OMIM:603585
Craniometaphyseal Dysplasia, Autosomal Recessive
Optic atrophy, Mandibular prognathia, Flared metaphysis, Facial hyperostosis, Abnormal thorax mor... OMIM:218400
Ruvalcaba Syndrome
Small hand, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short phalanx of f... OMIM:180870
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Clinodactyly, Pancytopenia, Abnormality of the liver, Macrocyt... ORPHA:2169
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Tarp Syndrome
Optic atrophy, Hepatic failure, Clinodactyly, Athetosis, Subdural hemorrhage, Tetralogy of Fallot... OMIM:311900
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Micrognathia, Ventricular septal defect, Decreased s... ORPHA:3472
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Talipes equinovarus, Cir... ORPHA:14
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Arthrogryposis multiplex congenita, Finger syndactyly, Abnormal mandib... ORPHA:2215
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Malar flattening, Brachydactyly, Short metatarsal, Advanced ossification o... OMIM:614613
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Syndactyly, Clinodactyly, Short finger OMIM:300049
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congeni... OMIM:619334
Frontometaphyseal Dysplasia 2
Broad thumb, Hip contracture, Bicuspid aortic valve, Talipes equinovarus, Dislocated radial head,... OMIM:617137
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Micromelia, Broad long bones, Micrognathia, Malar flattening, Shor... OMIM:224400
Pseudohypoparathyroidism Type 1B
Cataract, Depression, Hyperphosphatemia, Delayed eruption of teeth, Low urinary cyclic AMP respon... ORPHA:94089
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Low-set ears, Ectrodactyly, Oligohydramnios, Micrognathia, Polydactyly, Dysmeno... ORPHA:397590
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Oligosacchariduria, Congestive heart failure, Difficulty walking, Keratan s... ORPHA:423461
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Optic atrophy, Dilated cardiomyopathy, Retinal dysplasia, Camptodactyly of finger, Gait... ORPHA:272
Noonan Syndrome
Abnormality of the spleen, Micrognathia, Low posterior hairline, Radioulnar synostosis, Arrhythmi... ORPHA:648
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Sparse scalp hair, Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Bowi... OMIM:130070
Hand-Foot-Genital Syndrome
Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ... OMIM:140000
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Flared, irregular rib ends, S... ORPHA:168555
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Generalized muscle weakness OMIM:614096
Rere-Related Neurodevelopmental Syndrome
Self-injurious behavior, Hypospadias, Optic atrophy, Peters anomaly, Chorioretinal coloboma, Abno... ORPHA:494344
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Occipital Horn Syndrome
Genu valgum, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... OMIM:304150
Malaria
Acute kidney injury, Gait imbalance, Hyperbilirubinemia, Retinopathy, Elevated circulating C-reac... ORPHA:673
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Facial para... OMIM:166600
Xylt1-Cdg
Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermobility,... ORPHA:370930
Chops Syndrome
Cataract, Optic atrophy, Coarse hair, Tracheomalacia, Horseshoe kidney, Long eyelashes, Thick eye... OMIM:616368
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Lumbar hyperlordosis, Astigmatism, Obsessive-compulsive trait, Irritability, Lu... OMIM:617796
Say Syndrome
Short distal phalanx of finger, Micrognathia, Ulnar deviation of the 3rd finger, Macrotia, Tapere... OMIM:181180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Generalized muscle weakness, Proximal muscle weakness, Left ventricular hyper... OMIM:613156
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p... ORPHA:1553
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Multicystic kidney dysplasia, Abnormal heart morphology, Micrognat... ORPHA:261197
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Anauxetic Dysplasia 1
Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphysis, Short finger, Elbow flexion contractu... OMIM:607095
Fg Syndrome Type 1
Broad-based gait, Clinodactyly of the 2nd finger, Finger syndactyly, Micrognathia, Frontal upswee... ORPHA:93932
Congenital Disorder Of Deglycosylation 1
Small hand, Oral-pharyngeal dysphagia, 3-Methylglutaconic aciduria, Intrinsic hand muscle atrophy... OMIM:615273
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Multicystic kidney dysplasia, Optic atrophy, Aplasia/Hypoplasia involving ... ORPHA:3301
Joubert Syndrome 33
Syndactyly OMIM:617767
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Short toe, Hypoplastic iliac wing, Small epiphyses, Rhizo-meso-a... OMIM:611717
Limb Body Wall Complex
Progressive congenital scoliosis, Cutaneous finger syndactyly, Aplasia/hypoplasia involving bones... ORPHA:2369
X-Linked Charcot-Marie-Tooth Disease Type 5
Muscle weakness, Tremor, Skeletal muscle hypertrophy ORPHA:99014
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Ham... OMIM:310200
Morquio Syndrome C
Platyspondyly, Corneal opacity OMIM:252300
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortenin... OMIM:601356
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Fibular... OMIM:612447
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Long eyelashes, Micrognathia, Thick eyebrow, Generalized hirsutism, Abnormal h... ORPHA:1514
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Geroderma Osteodysplasticum
Platyspondyly, Osteopenia, Hypoplasia of the maxilla, Abnormal hair morphology, Femoral bowing, I... OMIM:231070
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Retinal detach... ORPHA:1473
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Supernumerary nipple, Twelfth rib hypoplasia, Bell-shaped thorax, Micrognathia, Abnormal optic di... ORPHA:397715
Posterior Column Ataxia With Retinitis Pigmentosa
Cataract, Joint contracture of the hand, Broad-based gait, Urinary incontinence, Optic atrophy, P... OMIM:609033
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ... OMIM:615503
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Supernumerary nipple, Mesomelic leg shortening, Fibular aplasia, Limi... OMIM:605274
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou... ORPHA:57777
Postaxial Acrofacial Dysostosis
Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p... ORPHA:246
Silver-Russell Syndrome 1
Urethral valve, Delayed skeletal maturation, Delayed cranial suture closure, Abnormality of the u... OMIM:180860
Brittle Cornea Syndrome
Abnormal epiphysis morphology, Corneal scarring, Increased susceptibility to fractures, Mitral va... ORPHA:90354
Sengers Syndrome
Cataract, Osteopenia, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Pulmonary arteria... OMIM:212350
Three M Syndrome 2
Short 5th finger, Thin ribs, Pectus carinatum, Dental malocclusion, Slender long bone, Clinodacty... OMIM:612921
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Asymmetric limb muscle stiffness, Genu valgum, Distal lower limb muscle we... ORPHA:3101
Aarskog-Scott Syndrome
Short 5th finger, Cervical spine hypermobility, Hypoplasia of the odontoid process, Hypoplasia of... OMIM:305400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Hypoplastic scapulae, Abnormality of the costochondral junct... ORPHA:96334
Silver-Russell Syndrome 3
Low-set ears, Small hand, Retrognathia, Oligohydramnios, Antecubital pterygium, Clinodactyly of t... OMIM:616489
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... OMIM:258315
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Pectus carinatum, Highly arched eyebrow, Tetralogy of Fallot, Thick eyebrow, Single transverse pa... OMIM:614701
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Acrofacial Dysostosis, Catania Type
Small hand, Carious teeth, Microretrognathia, Finger syndactyly, Delayed skeletal maturation, Hyp... ORPHA:1786
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Muscle weakness, Skeletal muscle hypertrophy ORPHA:101082
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Genu valgum, Arachnodactyly, Retinal detachment, Anorexia, Hepatomegaly, Cataract, Gastrointestin... ORPHA:394
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Fusion of midcervical facet joints, Widening of cervical spinal canal, Global sys... OMIM:606842
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly OMIM:149000
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Micrognathia, Ap... ORPHA:1225
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ... ORPHA:95699
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, S... OMIM:214300
Nail-Patella Syndrome
Keratoconus, Patellar aplasia, Hematuria, Talipes equinovarus, Disproportionate prominence of the... OMIM:161200
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
48,Xxxy Syndrome
Carious teeth, Elbow dislocation, Talipes equinovarus, Radioulnar synostosis, Short neck, Hip dis... ORPHA:96263
Alpha-Mannosidosis, Adult Form
Ataxia, Cataract, Osteopenia, Aortic regurgitation, Depression, Oligosacchariduria, Hepatosplenom... ORPHA:309288
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc... ORPHA:163966
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, External ophthalmoplegia, Axial dystonia, Flexion... OMIM:619026
Myotonia Permanens
Ophthalmoparesis, Generalized muscle hypertrophy, Ophthalmoplegia, Short stature, Muscle weakness... ORPHA:99735
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Hydroxyprolinuria, Bone pai... OMIM:602080
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Delayed skeletal maturation, Small ep... OMIM:616723
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal epiphysis morphology, Delayed eruption of teeth, Optic nerve compression, ... ORPHA:667
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Vitamin K Antagonist Embryofetopathy
Cataract, Short distal phalanx of finger, Optic atrophy, Punctate vertebral calcifications, Epiph... ORPHA:1914
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Foot oligodactyly, Tricuspid regurgitation, Portal hypertensi... OMIM:616589
Cystinosis
Nephropathy, Aminoaciduria, Rickets, Polydipsia, Renal insufficiency, Portal hypertension, Renal ... ORPHA:213
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... ORPHA:2768
Dyskeratosis Congenita
Carious teeth, White hair, Premature graying of hair, Displacement of the urethral meatus, Cirrho... ORPHA:1775
Atelis Syndrome 1
Cataract, Carious teeth, Leukopenia, Ventricular septal defect, Lumbar kyphosis, Attention defici... OMIM:620184
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Natal tooth, Cardiomyopathy, Absent hair, Congenital alopecia totalis, Cardiom... ORPHA:158687
Bohring-Opitz Syndrome
Limitation of joint mobility, Micrognathia, Bilateral wrist flexion contracture, Cholelithiasis, ... ORPHA:97297
Trisomy 20P
Finger syndactyly, Abnormality of the ureter, Micrognathia, Low posterior hairline, Short neck, H... ORPHA:261318
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Broad-based gait, Difficulty walking, Overlapping toe, Gait ataxia, Single transve... OMIM:617807
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Alopecia totalis, Micrognathia, Absent eyelashes, T... OMIM:263650
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Broad ribs, Splenomegaly, Joint swelling, Hepatomegaly, F... OMIM:612852
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... OMIM:201170
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Hypospadias, Osteop... OMIM:615546
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Small hand, Delayed cranial suture closure, Lymphopenia, Micrognathia, Atrial septal defect, Spar... OMIM:620005
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Hip contracture, Bowing of the long bones, Talipes equinovarus, Ab... OMIM:255800
49,Xxxxy Syndrome
Carious teeth, Elbow dislocation, Overfriendliness, Talipes equinovarus, Radioulnar synostosis, S... ORPHA:96264
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, A... ORPHA:600
Aspartylglucosaminuria
Abnormal vertebral morphology, Pectus carinatum, Mandibular prognathia, Carious teeth, Delayed sk... ORPHA:93
Arthrogryposis Multiplex Congenita 5
Hand clenching, Micrognathia, Acanthocytosis, Talipes equinovarus, Short neck, Poikilocytosis, Op... OMIM:618947
Mogs-Cdg
Optic atrophy, Alopecia, Retrognathia, Fair hair, Hepatosplenomegaly, Overlapping fingers, Long e... ORPHA:79330
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Distal Monosomy 7Q36
Optic atrophy, Micrognathia, Bilateral single transverse palmar creases, Short neck, Clinodactyly... ORPHA:1636
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Dysplasia of the femoral h... OMIM:619127
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Toe syndactyly, Carious teeth, Finger syndactyly, Hypoplasia of ... ORPHA:3253
Oncogenic Osteomalacia
Abnormal vertebral morphology, Renal phosphate wasting, Neurofibroma, Pathologic fracture, Abnorm... ORPHA:352540
Familial Dysautonomia
Ataxia, Optic atrophy, Osteolysis, Abnormal pupil morphology, Renal insufficiency, Heterochromia ... ORPHA:1764
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Bilateral single transverse palmar creases, M... ORPHA:261349
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Resting tremor, Hand tre... OMIM:157640
Cranioectodermal Dysplasia 2
Clinodactyly, Cholestasis, Micrognathia, Hyperbilirubinemia, Sparse eyelashes, Short neck, Atrial... OMIM:613610
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Highly arched eyebrow, Sandal gap, Tetralogy of Fallot, Nail dystrophy, ... OMIM:300887
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Rod-cone dystrophy, Ataxia, Foot polydactyly, Short foot, Retinal dys... OMIM:209900
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Cataract, Microcornea, Toe syndactyly, Congenital hip dislocation, Finger synda... ORPHA:217346
Forsythe-Wakeling Syndrome
Osteoporosis, Nephrotic syndrome, Delayed skeletal maturation, Thrombocytopenia OMIM:613606
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Joint stiffness, Femoral bowing, Bowin... ORPHA:1860
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Hypospadias, Highly arched eyebrow, Hypertrichosis, Tetralogy of Fallot, ... OMIM:618316
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ataxia, Limitation of joint mobility, Ureteral stenosis, Ocular ... ORPHA:2719
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Malar flattening, Short humeru... ORPHA:93328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Low anterior hairline, Elevated circulating creatine kinase concentration, Left ventric... OMIM:613153
Cockayne Syndrome A
Carious teeth, Square pelvis bone, Limitation of joint mobility, Dry hair, Hypoplastic iliac wing... OMIM:216400
21Q22.11Q22.12 Microdeletion Syndrome
Acromesomelia, Self-injurious behavior, Clinodactyly, Delayed skeletal maturation, Bruxism, Stere... ORPHA:261323
Alagille Syndrome 1
Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atria... OMIM:118450
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Optic atrophy, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiam... OMIM:249270
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Joint hypermobility, Ventricular septal defect, Leukemia, Syndactyly OMIM:602501
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Mitral valve prolapse, Arach... OMIM:182212
Meckel Syndrome 14
Hepatic fibrosis, Postaxial foot polydactyly, Microretrognathia, Retrognathia, Tricuspid regurgit... OMIM:619879
Niemann-Pick Disease, Type B
Abnormal macular morphology, Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Inc... OMIM:607616
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia... ORPHA:49827
Van Maldergem Syndrome 1
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Radial head subluxa... OMIM:601390
Woods Syndrome
Optic atrophy, Supernumerary nipple, Limited elbow extension, Single transverse palmar crease, Ve... OMIM:615236
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Dpm1-Cdg
Hepatic fibrosis, Optic atrophy, Elevated circulating hepatic transaminase concentration, Sandal ... ORPHA:79322
Jacobsen Syndrome
Hypospadias, Microcornea, Optic atrophy, Annular pancreas, Chorioretinal coloboma, Micrognathia, ... OMIM:147791
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Clinodactyly of the 5th toe, Sinusitis, Thrombocytopenia, Arthrit... ORPHA:229717
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Microretrognathia, Oligohydramnios, Single transverse palmar crease, 2-3 toe syndac... OMIM:236500
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Abnormal auditory evoked potentials, Delayed skeletal maturation, Os odontoideum, Irreg... OMIM:619260
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:1323
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy, Sandal gap, Micromelia, Broad hallux, Delayed skeletal maturation, Hypoplasia of t... OMIM:614800
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi... ORPHA:2347
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Facial paralysis, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pu... OMIM:175780
Grant Syndrome
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Coronal craniosynostosis, Hypoplasia of the maxilla, Coarse hair,... ORPHA:2095
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Warburg Micro Syndrome 3
Cataract, Microcornea, Optic atrophy, Hypertrichosis, Inability to walk, Micrognathia, Kyphoscoli... OMIM:614222
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoraci... OMIM:613702
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Hepatomegaly, Optic ... OMIM:611490
Dk Phocomelia Syndrome
Phocomelia, Thrombocytopenia OMIM:223340
Microphthalmia, Syndromic 3
Cataract, Optic nerve hypoplasia, Optic nerve aplasia, Butterfly vertebrae, Ventricular septal de... OMIM:206900
Becker Nevus Syndrome
Pectus carinatum, Micromelia, Supernumerary nipple, Abnormal tibia morphology, Rib fusion, Supern... ORPHA:64755
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hypermobility, Arachnodactyly, Long palm, Missing ri... ORPHA:2759
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia OMIM:125250
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact... OMIM:613573
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Contractural Arachnodactyly, Congenital
Micrognathia, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Arachnodact... OMIM:121050
Marshall-Smith Syndrome
Optic atrophy, Slender long bone, Retrognathia, Reduced bone mineral density, Increased susceptib... ORPHA:561
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Hearing impairment, Lymphedema, Syndactyly, Camptodactyly, Microtia OMIM:616006
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia... ORPHA:27
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Cockayne Syndrome B
Carious teeth, Square pelvis bone, Limitation of joint mobility, Dry hair, Abnormal hair morpholo... OMIM:133540
Fryns Syndrome
Short distal phalanx of finger, Multicystic kidney dysplasia, Narrow chest, Tetralogy of Fallot, ... ORPHA:2059
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, H... ORPHA:1067
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Pate... OMIM:218600
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Renal phosphate wasting, Osteomalacia, Sclerotic vertebral endplates, Ric... ORPHA:289176
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Arm dystonia, Muscle fi... ORPHA:300605
Tarp Syndrome
Broad-based gait, Finger syndactyly, Clinodactyly, Extramedullary hematopoiesis, Micrognathia, Ta... ORPHA:2886
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening... ORPHA:93262
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... OMIM:276820
Aicardi-Goutieres Syndrome 6
Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial septal defect, Polycystic kid... OMIM:263520
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Long Qt Syndrome 8
Syndactyly OMIM:618447
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ... OMIM:616720
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Micrognathia, Ventricular septal defect, Polyphagia, Short neck, Abnormal ... ORPHA:96121
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatocellular necrosis,... OMIM:201475
Achondrogenesis, Type Ii
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs... OMIM:200610
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Muscular Dystrophy, Becker Type
Arrhythmia, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:300376
Cerebrofacioarticular Syndrome
Self-injurious behavior, Osteopenia, Hypoplasia of the maxilla, Renal hypoplasia, Caudal appendag... ORPHA:314679
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Delayed skeletal maturation, Elevated circulating propion... OMIM:614857
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Ventricular septal defect, Limited elbow m... OMIM:134780
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Cataract, Osteopenia, Congenital hip dislocation, Aminoaciduria, Renal hypo... OMIM:617913
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Flat acetabular roof, Sparse eyebrow, Horizontal ri... OMIM:616300
Opsismodysplasia
Renal phosphate wasting, Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Hypo... OMIM:258480
Aspergillosis
Keratitis, Abnormality of the vertebral column, Hepatitis, Abnormal rib morphology, Osteomyelitis... ORPHA:1163
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Sparse eyel... OMIM:257850
Atelis Syndrome 2
Clinodactyly, Sacral dimple, Micrognathia, Single transverse palmar crease, Dysmetria, Vitreous h... OMIM:620185
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Multicystic kidney dysplasia, Natal tooth, Fibular aplasia, Microg... OMIM:300373
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Absent gallbladder, Low posterior hairline, Short neck, T... OMIM:617925
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Abnormal metacar... ORPHA:2658
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Fine hair, White hair, Lymphopenia, Abnormal metaphysis morphology, Aganglionic megacolon, Long f... ORPHA:935
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosi... OMIM:151050
Microcephalic osteodysplastic primordial dwarfism, type III
Chorioretinal coloboma, Delayed cranial suture closure, Dislocation of the femoral head, Microgna... OMIM:210730
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Nager Syndrome
Unilateral renal agenesis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Sparse lo... ORPHA:245
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Mandibular pain, Thi... OMIM:607634
Braddock-Carey Syndrome 2
Clinodactyly, Thrombocytopenia, Retrognathia OMIM:619981
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Natal tooth, Hepatic steatosis, Synovitis, Ataxia, Sparse hair, Hypospadias, I... ORPHA:3455
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Axial muscle weakness... ORPHA:206569
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Autoamputation of digits, Corneal ... OMIM:256800
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Microretrognathia, Joint dislocation, Joint hypermobility, Short clavicles, Short 4th metacarpal,... OMIM:606220
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Hypocalcemia, Short humerus, Patent for... OMIM:607143
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Finger syndactyly, Clinodactyly ORPHA:251046
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity OMIM:252650
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dry hair, Myofiber disarray, Mitral regurgitation, Ventricular septal defect, Woolly scalp hair, ... OMIM:620519
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, Abnormality of frontal sinus, Short thumb, Overlapping toe, Micrognathia, Arachnodac... ORPHA:436003
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Talipes equinovarus, Cervical C2/C3 vertebral fusion, Joint hypermobility OMIM:617333
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypotension, Abnormal pulse pressure, Sinus tac... ORPHA:466650
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Optic atrophy, Small hand, Malar flattening, Low posterior hairline, Hip dysplasia, Clinodactyly ... OMIM:618672
Autosomal Recessive Multiple Pterygium Syndrome
Limitation of joint mobility, Finger syndactyly, Micrognathia, Low posterior hairline, Symphalang... ORPHA:2990
Zika Virus Disease
Ankle swelling, Wrist swelling, Optic disc hypoplasia, Retinal pigment epithelial mottling, Macul... ORPHA:448237
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia, Syndactyly OMIM:226700
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Cardiomyopathy, Decreased liver function, 3-Methylglutaconic aci... ORPHA:67048
Jaberi-Elahi Syndrome
Cataract, Hand clenching, Broad-based gait, Pectus carinatum, Sparse eyebrow, Fine hair, Optic at... OMIM:617988
Atelosteogenesis Type Ii
Low-set ears, Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Broad... ORPHA:56304
3Mc Syndrome 3
Highly arched eyebrow, Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Radioulnar synostosi... OMIM:248340
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Micrognathia, Hip contracture, Short neck, Hepatomegaly, Spinal rigidity, Tapered toe,... OMIM:620369
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Synostosis of carpal bones, Finger syndactyly, Kyphosis, Short middle phalanx of finger... ORPHA:1005
3Q29 Microduplication Syndrome
Cataract, Toe syndactyly, Sandal gap, Aniridia, Ventricular septal defect, Camptodactyly of toe, ... ORPHA:251038
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Micrognathia, Ventricular septa... ORPHA:124
Jacobsen Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hall... ORPHA:2308
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Microretrognathia, Clinodactyly, Thick eyebrow, Patent foramen ovale, Poly... OMIM:618950
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyphosis, Denti... OMIM:616294
Vacterl/Vater Association
Hypospadias, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the u... ORPHA:887
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, B... OMIM:235510
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Inability to walk, Dysmetria, Hirsutism, Ataxia, Sparse hair, Mandibular prognathia... OMIM:618087
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing... ORPHA:1507
17Q12 Microduplication Syndrome
Abnormal vertebral morphology, Self-injurious behavior, Toe syndactyly, Finger syndactyly, Atrial... ORPHA:261272
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Broad-based gait, Abnormality of the spleen, Hepatosplenomegaly, Panc... ORPHA:2072
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Carious teeth, Hypo... OMIM:182250
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Micrognathia, Ventricular septal defect, Curly hair, H... ORPHA:444077
Nivelon-Nivelon-Mabille Syndrome
Narrow chest, Distal clavicular thinning, Micromelia, Optic disc coloboma, Hypoplasia of the iris... OMIM:600092
Gm1 Gangliosidosis Type 1
Platyspondyly, Pectus carinatum, Cardiomyopathy, Beaking of vertebral bodies T12-L3, Cherry red s... ORPHA:79255
Fanconi Anemia, Complementation Group T
Short thumb, Pancytopenia, Duplication of thumb phalanx, Acute myeloid leukemia, Thrombocytopenia... OMIM:616435
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Ventricular ... OMIM:146510
Cerebellar-Facial-Dental Syndrome
Cataract, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Foot joint contract... ORPHA:444072
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Horizontal eyebrow, Overlapping toe, Long eyelashes, Broad eyebrow, Thromb... OMIM:620475
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Short neck, Short palm, Hepatomegal... OMIM:269860
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Ventricular septal defect, Short neck, Ab... OMIM:268300
Dyskeratosis Congenita, Autosomal Dominant 3
Ataxia, Osteopenia, Gastrointestinal hemorrhage, Alopecia, Aplastic anemia, Fine hair, Premature ... OMIM:613990
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Short neck, Abnormal meta... ORPHA:2636
Brody Disease
Flexion contracture, Muscle weakness, Skeletal muscle hypertrophy OMIM:601003
Mirage Syndrome
Hypospadias, Scoliosis, Hyperkalemia, Microphallus, Radial club hand, Lymphopenia, Leukopenia, Ov... OMIM:617053
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hypertrichosis, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, T... OMIM:252930
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, Micro... ORPHA:83617
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Optic atrophy, Acute hepatic failure, Hepatosplenomegaly, Gait ataxia, Talipes ... ORPHA:466794
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Gowers sign, Facial palsy, ... OMIM:602541
Chromosome 16P13.3 Duplication Syndrome
Micrognathia, Ventricular septal defect, Short neck, Atrial septal defect, Small thenar eminence,... OMIM:613458
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Femoral bowing, Micrognathia, Dumbbel... ORPHA:440354
Kinsship Syndrome
Micrognathia, Short neck, Dislocated radial head, Motor stereotypy, Hip dislocation, Osteopenia, ... OMIM:619297
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Decreased nerve conduction velocity, Pancytopenia, Dysmetr... OMIM:159550
Elsahy-Waters Syndrome
Megalocornea, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Increased cup-... OMIM:211380
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Aniridia, Hypocalcemia, Decreased skull ossifica... OMIM:602361
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Scl... ORPHA:139471
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... OMIM:164310
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Oculodentodigital Dysplasia
Carious teeth, Dry hair, Clinodactyly, Joint contracture of the 5th finger, Arrhythmia, Atrial se... OMIM:164200
Rubinstein-Taybi Syndrome 1
Facial hypertrichosis, Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micro... OMIM:180849
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Ureteral agenesis, Micrognathia, Single tr... ORPHA:2437
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Hepatic failure, Elevated circul... ORPHA:398124
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Right bundle branch block, Delayed eruption of primary teeth, Sho... OMIM:619322
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology ORPHA:1506
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Joint stiffness, Genu valgum, A... ORPHA:1295
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ... OMIM:602196
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Delayed cranial suture closure, Micrognathia, Hyperlipidemia, Stage 5 chro... OMIM:608612
Ellis Van Creveld Syndrome
Acute leukemia, Synostosis of carpal bones, Abnormal hair morphology, Abnormality of the ureter, ... ORPHA:289
Floating-Harbor Syndrome
Broad-based gait, Carious teeth, Clinodactyly, Short neck, Atrial septal defect, Broad fingertip,... ORPHA:2044
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Delayed cranial suture closure, Micrognathia, Calcinosis, Hepatomegaly, Osteop... OMIM:248370
Saethre-Chotzen Syndrome
Optic atrophy, Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Abnormal form of the ve... ORPHA:794
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Hypertrophic cardiomyopathy, Inability to walk, Irritability, Loss of ambulation, ... OMIM:618241
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... OMIM:101400
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy, Inability to walk, Talipes equinovarus, Joint contracture, Scoliosis OMIM:617481
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Popliteal pterygium, Finger syndactyly, Fibrous syngnathia, Joint stiffness, Micr... ORPHA:1300
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Wildervanck Syndrome
Pseudopapilledema, Low posterior hairline, Short neck, Lens subluxation, Facial palsy, Fused cerv... ORPHA:3456
Poems Syndrome
Visceromegaly, Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Hypertrichosis, Meta... ORPHA:2905
Harrod Syndrome
Cataract, Abnormal pelvic girdle bone morphology, Multicystic kidney dysplasia, Dental malocclusi... ORPHA:2115
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Polyphagia, Short neck,... ORPHA:79443
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Single transver... OMIM:612949
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly, Patent ductus arteriosus ORPHA:1338
Congenital Disorder Of Glycosylation, Type Id
Optic atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Clinodactyly, C... OMIM:601110
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Highly arched eyebrow, Sparse eyebrow, Broad thumb, Secundum atrial septal defe... OMIM:600987
Distal Deletion 13Q
Optic atrophy, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the thumb, Abnormalit... ORPHA:1590
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thick eyebrow, Attention deficit hyperactivity disorder, Clinodactyly ... OMIM:619736
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal... OMIM:216340
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Cataract, Brachioradialis areflexia, Rhizomelia, Congestive heart failure, Leukopenia, Mi... OMIM:616271
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Optic atrophy, Mydriasis, Broad femoral neck, Broad ribs, Sclerosis of skull base,... OMIM:619727
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Short thumb, Supernumerary vertebrae, Supernumerary nipple, Micrognat... OMIM:263750
Mannosidosis, Alpha B, Lysosomal
Thoracolumbar kyphosis, Abnormal rib cage morphology, Pectus carinatum, Hypertrichosis, Femoral b... OMIM:248500
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Avascular necrosis of th... OMIM:190351
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminen... OMIM:268305
Glycine Encephalopathy With Normal Serum Glycine
Genu recurvatum, Hand clenching, Optic atrophy, Retrognathia, Elbow flexion contracture, Overlapp... OMIM:617301
Filippi Syndrome
Optic atrophy, Limitation of joint mobility, Finger syndactyly, Delayed skeletal maturation, Supe... ORPHA:3255
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Mandibular prognathia, Elbow flexion contracture, Inability to walk, Genu valgum, ... OMIM:618493
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Mildly elevated creatine kinase, Stage 3 ... OMIM:619743
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Clinodactyly, Brachydactyly, Thrombocytopenia, B lymphocy... OMIM:618048
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Pigmentary retinopathy, Micrognathia, Short neck, Camptodactyly, Syndactyly, Micropenis... OMIM:614230
Radio-Renal Syndrome
Multicystic kidney dysplasia, Micromelia, Abnormal form of the vertebral bodies, Retrognathia, Mi... ORPHA:3015
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Optic atrophy, Coarse hair, Slender long bone, Joint hypermobility, Cubitus valg... ORPHA:1185
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly OMIM:263630
Schinzel-Giedion Midface Retraction Syndrome
Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Hepatoblastoma, Atrial sep... OMIM:269150
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Prim... ORPHA:2975
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Keratitis, Sinus tachycardia, Polydipsia... ORPHA:525731
Optic Atrophy 11
Optic atrophy, Cherry red spot of the macula, Stereotypical body rocking, Facial diplegia, Spleno... OMIM:617302
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Abnormal hair whorl, Optic atrophy, Cl... OMIM:614261
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Finger syndactyly, Dystrophic toenail, Camptodactyly of finger, Abnor... ORPHA:2907
Rubinstein-Taybi Syndrome
Highly arched eyebrow, Clubbing of toes, Broad thumb, Carious teeth, Finger syndactyly, Abnormal ... ORPHA:783
Ogden Syndrome
Delayed cranial suture closure, Torsade de pointes, Micrognathia, Hyperbilirubinemia, Ventricular... OMIM:300855
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Elevated circulating hexacosanoic acid concentration, Optic atrophy, Broad thumb, Restlessness, B... OMIM:614388
Dextrocardia
Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, ... ORPHA:1666
Endocrine-Cerebroosteodysplasia
Narrow chest, Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Microphallus, Fibular bo... OMIM:612651
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Long eyelashes, Micrognathia, Decreased heart rate variability, Self-mutil... OMIM:619005
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Bilateral radial aplasia, Absent thumb, Aplastic anemia, Optic dis... OMIM:300514
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Hear... OMIM:600383
Mevalonic Aciduria
Progressive cerebellar ataxia, Cataract, Nuclear cataract, Elevated circulating hepatic transamin... OMIM:610377
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Congestive heart failure, Abnormal heart valve morphology, Heparan sul... OMIM:309900
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Rachitic rosary, Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, P... ORPHA:157215
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Unilateral renal agenesis, Narrow chest, Metaphyseal spurs,... OMIM:618188
Muscular Dystrophy, Cardiac Type
Carnosinuria, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:309930
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Synostosis of carpal bones, Conductive hearing impairment... ORPHA:3238
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Red urine, Absent eyebrow, Hepatomegaly, Jaundice, Osteopenia, Cho... OMIM:263700
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ... OMIM:618022
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Progressive gait ataxia, Dysphagia, Scoliosis, Progressive cerebellar ataxia ORPHA:1177
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Microretrognathia, Abnormal rib morphology, Preaxia... ORPHA:261344
Neurofibromatosis Type 1
Chorioretinal coloboma, Genu valgum, Ataxia, Leukemia, Genu varum, Cataract, Osteopenia, Plexifor... ORPHA:636
Monosomy 9Q22.3
Cataract, Palmar pits, Abnormality of the vertebral column, Delayed eruption of teeth, Abnormal r... ORPHA:77301
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Retrognathia, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Long eyelas... OMIM:301110
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Small hand, Toe syndactyly, Multicystic kidney dysplasia, Finger syndactyl... ORPHA:1001
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomega... OMIM:617591
Alkuraya-Kucinskas Syndrome
Low-set ears, Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Pleural effusio... OMIM:617822
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Narrow chest, Micromelia, Increased skull ossification, B... ORPHA:1422
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hepatomegaly, Panc... ORPHA:289916
Distal 17P13.1 Microdeletion Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Abnormal hand morphology, Generalized joint hyper... ORPHA:319171
Kindler Epidermolysis Bullosa
Carious teeth, Palmoplantar keratoderma, Finger syndactyly, Abnormal rib morphology, Camptodactyl... ORPHA:2908
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Ventricular septal defect, Cataract, Osteopenia, Increased susceptibility to... OMIM:259770
Cerebrotendinous Xanthomatosis
Abnormal tibia morphology, Abnormal retinal vascular morphology, Ataxia, Abnormal finger morpholo... ORPHA:909
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Retinal degeneration, Cardiomegaly, L... ORPHA:391428
Recon Progeroid Syndrome
Delayed eruption of permanent teeth, Long thumb, Joint hypermobility, Arachnodactyly, Prominence ... OMIM:620370
Roifman-Chitayat Syndrome
Osteopenia, Optic atrophy, Cone-shaped epiphysis, Short neck, Arthritis, Short metatarsal, Ectopi... OMIM:613328
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia... OMIM:231095
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Overlapping toe, Micrognathia, Ventricular septal defect, Talipes e... OMIM:154400
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Broad-based gait, Toe syndactyly, Overlapping toe, Ventricular septal defe... OMIM:601808
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Optic atrophy, Contractures of the large joints, Micrognathia, Vesico... ORPHA:3078
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Myopic astigmatism, Broad ribs, Hepatosplenomegaly, Genu valgum, Limited elbow ex... OMIM:301066
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morphology, Arrhythmi... ORPHA:85443
Idiopathic Hypereosinophilic Syndrome
Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Chronic hepatitis, Myocardial eo... ORPHA:3260
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Retrognathia, Hypertrichosis, Muscular ventricular septal defect, Butt... OMIM:619227
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Rhabdo... OMIM:255125
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave, Bruxism, Gait ataxia, Stereotypical hand wringing, Gait ... OMIM:312750
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Tarsal ... OMIM:157800
Brachydactyly, Type E1
Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Straight clavicles... OMIM:113300
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Incr... ORPHA:101028
Myopathy With Extrapyramidal Signs
Optic atrophy, Elevated circulating hepatic transaminase concentration, Extremely elevated creati... OMIM:615673
X Small Rings
Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, Ventricular sept... ORPHA:96201
Down Syndrome
Keratoconus, Atlantoaxial dislocation, Bilateral single transverse palmar creases, Acute megakary... ORPHA:870
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
8Q22.1 Microdeletion Syndrome
Highly arched eyebrow, Hypoplasia of the maxilla, Sparse eyebrow, Limitation of joint mobility, S... ORPHA:178303
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Narrow chest, Clinodactyly, Cardiomyopathy, Tracheomalacia, Micrognathia, Short neck... OMIM:217980
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Gait ataxia, Dysmetria, Peripheral axonal neuropathy, Steppage gait, Ataxia, Flexi... OMIM:616505
Paramyotonia Congenita
Muscle weakness, Skeletal muscle hypertrophy OMIM:168300
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... ORPHA:1508
Cog1-Cdg
Posterior rib gap, Osteopenia, Rhizomelia, Abnormal macular morphology, Hepatosplenomegaly, Micro... ORPHA:263508
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Congenital hip dislocation, Pectus carinatum, Sparse eyebrow, Arthrogryposis multiplex congenita,... ORPHA:496641
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Thrombocytopenia OMIM:610329
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Cleft mandible, Thin eyebrow, Prominent metopic rid... ORPHA:364577
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Finger syndactyly, Micrognathia, Ataxia, Brittle hair, Foot polydac... ORPHA:2750
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Orofaciodigital Syndrome Iv
Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial po... OMIM:258860
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
20P13 Microdeletion Syndrome
Highly arched eyebrow, Microcornea, Finger syndactyly, Clinodactyly, Retinopathy, Polydactyly, Br... ORPHA:313781
Alkaptonuria
Aortic valve calcification, Elevated urinary homogentisic acid, Limited hip movement, Brown pigme... OMIM:203500
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Cerebrocostomandibular Syndrome
Carious teeth, Micrognathia, Bell-shaped thorax, Ventricular septal defect, Atrial septal defect,... OMIM:117650
Teebi-Shaltout Syndrome
Aortic valve stenosis, Pectus carinatum, Sparse hair, Highly arched eyebrow, Caudal appendage, Ur... OMIM:272950
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Growth delay, Tremor, Weakness of facial musculat... ORPHA:502423
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Dental malocclusion, Clinodactyly, Sandal gap, Ectopia pupillae, 3-4 toe... OMIM:618727
Camptodactyly Syndrome, Guadalajara Type 3
Symblepharon, Osteopenia, Small hand, Broad femoral neck, Retrognathia, Delayed skeletal maturati... ORPHA:488434
Peroxisome Biogenesis Disorder 8B
Cataract, Optic atrophy, Tip-toe gait, Decreased liver function, Elevated circulating phytanic ac... OMIM:614877
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Premature graying of hair, Microcytic anemia, Arrhythmia, ... OMIM:256040
Amed Syndrome, Digenic
Leukopenia, Long thumb, Attention deficit hyperactivity disorder, Acute myeloid leukemia, Thrombo... OMIM:619151
Osteogenesis Imperfecta, Type Vii
Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Ver... OMIM:610682
Prader-Willi Syndrome
Small hand, Carious teeth, Clinodactyly, Genu valgum, Frontal upsweep of hair, Narrow palm, Polyp... OMIM:176270
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Self-injurious behavior, Ankle flexion contracture, Hypospadias, Finger syndactyly, Single transv... ORPHA:435938
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Polyphagia, Short neck,... ORPHA:79444
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Emotional lability, Ventricular s... ORPHA:353281
Dpagt1-Cdg
Clinodactyly, Arachnodactyly, Rod-cone dystrophy, Ataxia, Hepatomegaly, Head-banging, Inability t... ORPHA:86309
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Narrow chest, Short thumb, Delayed eruption of teeth, Overlapping toe,... OMIM:619148
Rothmund-Thomson Syndrome, Type 3
Short distal phalanx of finger, Osteopenia, Microretrognathia, Sparse eyebrow, Talipes equinovaru... OMIM:615789
Mucolipidosis Type Iv
Genu recurvatum, Palmoplantar keratoderma, Retinopathy, Abnormality of retinal pigmentation, Gait... ORPHA:578
Tangier Disease
Decreased HDL cholesterol concentration, Peripheral demyelination, Facial diplegia, Splenomegaly,... OMIM:205400
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Talipes equinovarus, Short... ORPHA:168572
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Osteomalacia, Pancreatic calcification, Abnormality of the knee, Fused c... ORPHA:51608
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Deviation of finger, Microcy... ORPHA:903
Meckel Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Micrognathia, Congenital hepatic fibros... ORPHA:564
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Total anomalous pulmonary venous return, Unilateral renal agenesis, Dental malocclus... ORPHA:487796
Systemic Lupus Erythematosus 17
Hypertensive crisis, Alopecia, Lymphopenia, Leukopenia, Mitral regurgitation, Optic neuritis, Ray... OMIM:301080
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Keratoconus, Thin ribs, Arachnodactyly, Talipes equinovarus, Re... OMIM:225400
Olmsted Syndrome 1
Sparse hair, Alopecia universalis, Palmoplantar keratoderma, Autoamputation of digits, Nail dystr... OMIM:614594
1P36 Deletion Syndrome
Delayed cranial suture closure, Abnormality of the spleen, Hepatic steatosis, Telangiectasia, Pol... ORPHA:1606
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Microcornea, Carious teeth, Sparse eyebrow, Hypocholesterolemia, Micr... OMIM:244450
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand p... OMIM:277170
Marshall Syndrome
Cataract, Hypoplasia of the maxilla, Sparse eyebrow, Ectopia lentis, Hypoplasia of the zygomatic ... ORPHA:560
Myotonia Congenita, Autosomal Recessive
Muscle hypertrophy of the lower extremities, Muscle weakness, Skeletal muscle hypertrophy OMIM:255700
Adams-Oliver Syndrome 2
Optic atrophy, Alopecia, Micrognathia, Absent distal phalanges, Single transverse palmar crease, ... OMIM:614219
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Optic atrophy, Astigmatism, Unilateral facial palsy, Rod-cone dystrophy, Ataxia, Laryngotracheoma... OMIM:618547
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Osteopenia, Carious teeth, Femoral bowing, Osteoporosis, Scoliosis, Recurrent frac... OMIM:126550
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Wagro Syndrome
Cataract, Aniridia, Micrognathia, Malar flattening, Emotional lability, Low frustration tolerance... OMIM:612469
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Leukopenia, Vesicoureteral reflux, 2-3... OMIM:603467
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Hypoplasia of the maxilla, Sparse eyebrow, Conjunctival hyperemia, Abnormal eyelash mor... ORPHA:2399
Lig4 Syndrome
Pancytopenia, Astigmatism, Chronic sinusitis, Low anterior hairline, Telangiectasia, Thrombocytop... OMIM:606593
Naxos Disease
Sparse body hair, Diffuse palmoplantar hyperkeratosis, Premature ventricular contraction, Arrhyth... OMIM:601214
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Neutropenia, He... OMIM:612541
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Optic atrophy, Toe syndactyly, Finger syndactyly, Cerebral ischemia, Joint hypermobility, Hand po... ORPHA:60040
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Ventricular septal defect, Talipes ... OMIM:616145
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Congestive heart failure, Kypho... ORPHA:3077
Spastic Paraplegia 50, Autosomal Recessive
Talipes equinovarus, Adducted thumb, Ataxia, Optic disc pallor, Mandibular prognathia OMIM:612936
Mucopolysaccharidosis, Type Iiia
Coarse hair, Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Thickened ribs, H... OMIM:252900
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal vertebral morphology, Alopecia, Toe syndactyly, Finger syndactyly, Supernumerary nipple,... ORPHA:3224
Qazi-Markouizos Syndrome
Hypoplasia of teeth, Delayed ossification of carpal bones, Tapered finger ORPHA:3010
Adams-Oliver Syndrome 5
Dystrophic toenail, Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pu... OMIM:616028
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Folate-responsive megaloblastic anemia, Irritability, Thrombocytopenia, Neutr... OMIM:229050
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Frontal upsweep of hair, ... OMIM:305450
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Scoliosis, Clinodactyly, Dental malocclusion, Sacral dimple, Tricuspid regurgitation... OMIM:616894
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Decreased liver function, Pathologic fracture, Bone pai... ORPHA:98850
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Ring Chromosome 12 Syndrome
Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Dystrophic toenail, Glan... ORPHA:1439
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Prominent fingertip pads, Retrognathia, Micrognathia, Astigmatism, Low anterior ha... ORPHA:480898
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Vasculitis, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocy... OMIM:308240
Craniolenticulosutural Dysplasia
Sparse hair, Osteopenia, Posterior Y-sutural cataract, High iliac wing, Posterior wedging of vert... OMIM:607812
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf... OMIM:620609
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Thoracic hypoplasia, Deep palmar crease, Short proxim... OMIM:616638
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Cardiomyopathy, Pancytopenia, Hypergl... OMIM:606054
Muenke Syndrome
Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Malar flattening, Sensorineur... ORPHA:53271
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail... ORPHA:75564
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Optic atrophy, Dilated cardiomyopathy, Congestive heart failure, Normo... OMIM:610198
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Oliver Syndrome
Postaxial foot polydactyly, Dental malocclusion, Short toe, Prominent fingertip pads, Camptodacty... ORPHA:2920
Hajdu-Cheney Syndrome
Low-set ears, Foot acroosteolysis, Conductive hearing impairment, Dental malocclusion, Large earl... OMIM:102500
Pantothenate Kinase-Associated Neurodegeneration
Acanthocytosis, Emotional lability, Loss of ambulation, Rod-cone dystrophy, Tics, Choreoathetosis... ORPHA:157850
Myoclonic-Astatic Epilepsy
Frontal balding, Abnormal emotion, Attention deficit hyperactivity disorder, Hyperactivity, Ataxi... ORPHA:1942
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Turner Syndrome Due To Structural X Chromosome Anomalies
Genu valgum, Micrognathia, Hepatic steatosis, Low posterior hairline, Bicuspid aortic valve, Shor... ORPHA:99413
Mosaic Monosomy X
Genu valgum, Micrognathia, Hepatic steatosis, Low posterior hairline, Bicuspid aortic valve, Shor... ORPHA:99228
Monosomy X
Genu valgum, Micrognathia, Hepatic steatosis, Low posterior hairline, Bicuspid aortic valve, Shor... ORPHA:99226
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Turner Syndrome
Genu valgum, Micrognathia, Hepatic steatosis, Low posterior hairline, Bicuspid aortic valve, Shor... ORPHA:881
Fanconi Anemia, Complementation Group C
Anterior wedging of T12, Absent thumb, Short thumb, Absent radius, Horseshoe kidney, Pancytopenia... OMIM:227645
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic atrophy, Optic nerve hypoplasia, Optic disc hypoplasia, Delayed skeletal matur... ORPHA:401777
Beck-Fahrner Syndrome
Depression, Joint hypermobility, Cardiomegaly, Ventricular septal defect, Attention deficit hyper... OMIM:618798
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Irritability, Fatal ... ORPHA:263501
Meier-Gorlin Syndrome 7
Aplasia/Hypoplasia of the patella, Ventricular septal defect, Urethral stricture, Atrial septal d... OMIM:617063
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Abnormal hip bone morphology, Overriding aorta, ... ORPHA:1110
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Bilateral r... OMIM:243605
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Low-set ears, Toe syndactyly, Finger syndactyly, Retrognathia, Arachnodactyly, Protruding ear, Sh... ORPHA:73246
Xq12-Q13.3 Duplication Syndrome
Bulimia, Cutaneous finger syndactyly, Elevated circulating creatine kinase concentration, 2-3 toe... ORPHA:314389
Genitopatellar Syndrome
Hypoplastic ilia, Multicystic kidney dysplasia, Sparse scalp hair, Delayed eruption of teeth, Fin... ORPHA:85201
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Cataract, Hand clenching, Joint contracture of the hand, Slender finger, Focal s... OMIM:251300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Pr... OMIM:620367
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Depression, Cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, 3-... OMIM:619259
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Malan Overgrowth Syndrome
Slender long bone, Optic disc hypoplasia, Episodic ataxia, Low posterior hairline, Optic disc pal... ORPHA:420179
Immunodeficiency 114, Folate-Responsive
Carious teeth, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megalobla... OMIM:620603
Orofaciodigital Syndrome X
Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b... OMIM:165590
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short 5th finger, Cataract, Short distal phalanx of finger, Increased urine alpha-ketoglutarate c... OMIM:220500
Sweeney-Cox Syndrome
Short distal phalanx of finger, Narrow chest, Micrognathia, Patent foramen ovale, 2-4 finger synd... OMIM:617746
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Hyperbilirubinemia, Bulbous tips of toes, Hypocalcemia, Absen... ORPHA:163979
Shwachman-Diamond Syndrome 2
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Thro... OMIM:617941
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Cardiomyopathy, Dysmetria, Aggressive behavior, Thrombocytopenia, Ataxia, Rod-cone... OMIM:617710
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Hypoplasia of the zygomatic bone, Genu valgum, Joint hypermobility, Low posterior hairline, Cubit... ORPHA:1778
Trisomy 18
Cataract, Microcornea, Microretrognathia, Deviation of finger, Delayed skeletal maturation, Campt... ORPHA:3380
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, Delayed skeletal maturation, 11 pairs of ribs, Patellar aplasia, Radioulnar ... OMIM:617604
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Deeah Syndrome
Retrognathia, Delayed skeletal maturation, Exocrine pancreatic insufficiency, Overlapping fingers... OMIM:619004
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Micrognathia, Emotional lability,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Micrognathia, Emotional lability,... ORPHA:353277
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Wilson Disease
Hypouricemia, Kayser-Fleischer ring, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Hep... OMIM:277900
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, H... OMIM:603903
Autosomal Dominant Cutis Laxa
Genu recurvatum, Osteopenia, Unilateral renal agenesis, Aortic regurgitation, Delayed cranial sut... ORPHA:90348
Congenital Disorder Of Glycosylation, Type Iib
Hand clenching, Optic atrophy, Retrognathia, Elevated circulating aspartate aminotransferase conc... OMIM:606056
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Hyperphosphatemia, Delayed skeletal maturation, Delayed cranial suture closure, Hy... ORPHA:93325
Severe Congenital Nemaline Myopathy
Thin ribs, Hypospadias, Abnormal thorax morphology, Facial diplegia, Adducted thumb, Dysphagia, M... ORPHA:171430
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short nail, Kyphosis, Short 4th toe, Short humerus, Short neck, Brachydacty... ORPHA:420794
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Hermansky-Pudlak Syndrome 2
Albinism, Reduced natural killer cell count, Carious teeth, Enlarged platelet dense granules, Fai... OMIM:608233
Rhyns Syndrome
Chronic kidney disease, Osteopenia, Nephronophthisis, Radial bowing, Delayed skeletal maturation,... OMIM:602152
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Prominent fingertip pads, Retrognathia, Micrognathia, Astigmatism, Low anterior ha... OMIM:616875
Floating-Harbor Syndrome
Broad thumb, Carious teeth, Low posterior hairline, Short neck, Atrial septal defect, Broad finge... OMIM:136140
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Hydronephrosis, Missing ribs, Sh... OMIM:271520
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic... OMIM:618164
Acrocardiofacial Syndrome
Toe syndactyly, Joint dislocation, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallo... ORPHA:2008
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Abnormal heart morphology, Absent radius, Pancytopenia, Horseshoe kidn... OMIM:600901
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Megalocorn... ORPHA:137675
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Absent nipple, Ureteral triplication, Mitral valve prolapse, Hydronep... OMIM:104350
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Proteinuria, Thrombocytopen... OMIM:615008
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Sparse body hair, Sh... ORPHA:2234
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplastic acetabulae, Irregular epiphyses, Genu valgum, Iliac crest serra... OMIM:607326
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... OMIM:216360
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Conductive hearing impairment, Finger syndactyly ORPHA:1997
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport... ORPHA:64743
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Cranial nerve compression, Stiff neck, Abnormality of the vestibul... ORPHA:268882
Cockayne Syndrome
Lentiglobus, Carious teeth, Dry hair, Difficulty walking, Delayed eruption of primary teeth, Peri... ORPHA:191
Neu-Laxova Syndrome 2
Low-set ears, Toe syndactyly, Finger syndactyly, Micrognathia, Polyhydramnios, Rocker bottom foot... OMIM:616038
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Scoliosis, Recurrent fractures OMIM:615066
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Osteogenesis Imperfecta, Type I
Osteopenia, Dentinogenesis imperfecta, Femoral bowing, Increased susceptibility to fractures, Mit... OMIM:166200
Schinzel-Giedion Syndrome
Abnormality of the ureter, Overlapping toe, Overlapping fingers, Micrognathia, Radioulnar synosto... ORPHA:798
Neurocardiofaciodigital Syndrome
Cataract, Sparse eyebrow, Retrognathia, Tetralogy of Fallot, Vesicoureteral reflux, Polydactyly, ... OMIM:619869
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... OMIM:119100
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Abnormal sternum morphology, Supernumerary nipple, Broad ribs, Ventricul... ORPHA:2519
Luscan-Lumish Syndrome
Irregular menstruation, Recurrent otitis media, Malar flattening, Advanced ossification of carpal... OMIM:616831
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... OMIM:617021
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr... OMIM:617713
Short Stature-Micrognathia Syndrome
Rhizomelia, Broad femoral neck, Bowing of the legs, Intrauterine growth retardation, 2-3 toe synd... OMIM:617164
Srd5A3-Cdg
Cataract, Optic atrophy, Elevated circulating hepatic transaminase concentration, Palmoplantar ke... ORPHA:324737
Blepharonasofacial Malformation Syndrome
Optic atrophy, Sparse lateral eyebrow, Finger syndactyly, Joint hypermobility, Low posterior hair... ORPHA:1252
Muckle-Wells Syndrome
Nephropathy, Vasculitis, Nephrotic syndrome, Optic atrophy, Camptodactyly of finger, Splenomegaly... ORPHA:575
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Alopecia, Contractures of the large joints, Delayed ... ORPHA:2457
Acrofrontofacionasal Dysostosis 2
Broad thumb, Broad hallux, Hand polydactyly, Hypospadias, Widow's peak, Sacral dimple, Syndactyly OMIM:239710
Joubert Syndrome 14
Highly arched eyebrow, Optic atrophy, Malar flattening, Ventricular septal defect, Postaxial poly... OMIM:614424
Felty Syndrome
Limitation of joint mobility, Abnormal joint morphology, Abnormal lymphocyte morphology, Splenome... ORPHA:47612
Diamond-Blackfan Anemia 11
Finger aplasia, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Anemia of ina... OMIM:614900
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Conju... ORPHA:2890
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hepatic steatosis, Glomerular sclerosis, Micropenis, Hepatomegaly, Renal insu... OMIM:619487
Stolerman Neurodevelopmental Syndrome
Joint hypermobility, Hypoplastic nipples, Hyperactivity, Pectus excavatum, Clinodactyly of the 5t... OMIM:618505
Griscelli Syndrome
Iris hypopigmentation, Silver-gray hair, Hepatitis, Abnormal circulating lipid concentration, Whi... ORPHA:381
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ... ORPHA:1797
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology, Hy... ORPHA:276422
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Hearing impairment, Camptodactyly of finger, Cutaneous finger syndact... ORPHA:896
Degcags Syndrome
Chronic kidney disease, Toe syndactyly, Oral-pharyngeal dysphagia, Premature graying of hair, Cho... OMIM:619488
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Abnormal heart morphology, Absent radius, Pancytopenia, Horseshoe kidn... OMIM:227650
Macrodactyly
Macrodactyly OMIM:155500
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... ORPHA:98908
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute he... OMIM:619644
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ... ORPHA:3003
Fucosidosis
Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Mucopolysacchariduria, Corneal opacit... ORPHA:349
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Short neck, Short foot, Iris coloboma... ORPHA:709
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Annular pancreas, Preaxial hand polydactyly, Abnormal heart morphology... OMIM:227646
Rhabdoid Tumor
Irritability, Hematuria, Hypertension, Neoplasm of the liver, Internal hemorrhage, Thrombocytopen... ORPHA:69077
Peters-Plus Syndrome
Facial hypertrichosis, Square pelvis bone, Micrognathia, Ventricular septal defect, Limited elbow... OMIM:261540
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Long eyelashes, Astigmatism, Low posterior hairline, Optic d... OMIM:617523
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Short finger, Cleft mandible, Thin eyebrow, Microgn... OMIM:608670
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Multicystic kidney dysplasia, Osteolysis, Micrognathia, Subvalvul... ORPHA:1052
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Facial palsy OMIM:615085
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Talipes equinovarus, Retinal detachment, Finger joint hypermobilit... OMIM:620371
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Joint contracture of the hand, Conductive hearing impairment, Atresia of the external auditory ca... OMIM:608257
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Finger syndactyly, Emotional la... ORPHA:110
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Increased circul... OMIM:616050
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... OMIM:615415
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Tachycardia, Shock, Osteomyelitis, Elevated circulating creatinine concentrat... ORPHA:36234
Pseudo-Torch Syndrome 1
Cataract, Microretrognathia, Elevated circulating hepatic transaminase concentration, Decreased l... OMIM:251290
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Pfeiffer Syndrome Type 2
Deviation of the thumb, Low-set ears, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly,... ORPHA:93259
Craniofrontonasal Syndrome
Toe syndactyly, Low posterior hairline, Short neck, Sprengel anomaly, Curly hair, Hemihypotrophy ... OMIM:304110
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Hypoplasia of the maxilla, Hypospadias, Abnormal epiphysis morphology, Slender... ORPHA:2554
Trichorhinophalangeal Syndrome, Type Ii
Rib exostoses, Carious teeth, Sparse scalp hair, Hyperplasia of the maxilla, Micrognathia, Lumbar... OMIM:150230
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... ORPHA:210136
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... ORPHA:75566
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia... ORPHA:1304
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Micrognathia, Proximal renal tubular acidosis, Elliptocytosis, Hepatomegaly, Crania... ORPHA:2785
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia, Hepatic hemangioma, Avasc... ORPHA:141184
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Recurrent sinusitis, Decreased proportio... OMIM:614700
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Abnormal hair morphology, Absent eyebrow, Abnormal pelvis bone mor... ORPHA:2273
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of the zygomatic bone, Sandal gap, Retrognathia, Abnormal dental enamel morphology, Su... ORPHA:1812
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Proximal renal tubular... OMIM:309000
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Dilated cardiomyopathy, Aplastic anemia, Premature graying of hair, Pancytopeni... OMIM:613989
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hep... ORPHA:228308
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Optic atrophy, Overlapping toe, Low anterior hairline, Hirsutism, Limb joint contracture, Synophr... OMIM:300004
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Focal Dermal Hypoplasia
Toe syndactyly, Midclavicular aplasia, Chorioretinal coloboma, Supernumerary nipple, Telangiectas... OMIM:305600
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Asymmetry of the thorax, Finger syndactyly, Abnormality of retinal pigmentation, Abnormal mitral ... ORPHA:1969
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis OMIM:614473
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Abnormality iris morphology, Retrognathia, Abnormal sternum morphology, Tra... ORPHA:91387
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Tremor, Short stature, Growth ... OMIM:617675
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Thoracic hypoplasia, Overlapping toe, Single transverse palmar crease, Joint hyperm... ORPHA:254528
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Hypospadias, Clinodactyly, Short thumb, Abnormal heart mor... ORPHA:1708
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Fetal Parvovirus Syndrome
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:295
Congenital Enterovirus Infection
Hypoalbuminemia, Hypotension, Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia... ORPHA:292
Dubowitz Syndrome
Hypospadias, Sparse scalp hair, Carious teeth, Aplastic anemia, Delayed eruption of teeth, Delaye... OMIM:223370
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Microcornea, Retrognathia, Abnormal optic nerve morphology, Thin eyebrow, Microgna... ORPHA:2707
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
Acetazolamide-Responsive Myotonia
Ophthalmoparesis, Ophthalmoplegia, Skeletal muscle hypertrophy ORPHA:99736
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Fine hair, Supernumerary nipple, Thin eyebrow, Sparse or absent eyelashes, Abn... ORPHA:1433
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, Finger clinodactyly, Preaxial polydactyly, Abnormal heart morphology, Micr... ORPHA:2754
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Ventricular septal defect, Short neck, Atrial septal de... OMIM:229850
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, Micrognathia, Talipes equinovarus, Attention deficit hyperactivity ... OMIM:620029
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Genu valgum, Hematuria, Hypophosphatemia, Hepatome... OMIM:219800
Myotonia Congenita, Autosomal Dominant
Muscle weakness, Skeletal muscle hypertrophy OMIM:160800
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Supernumerary nipple, Ventricular septal defect, Talipes equinovarus, 2-3 finger syn... OMIM:312870
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Arrhythmia, Absent radius, Short ... OMIM:181450
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Clinodactyly, Delayed skeletal maturation, Abnormal heart morphology, Horseshoe kidn... ORPHA:96182
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Myotonia, Potassium-Aggravated
Skeletal muscle atrophy, Muscle weakness, Skeletal muscle hypertrophy OMIM:608390
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi... ORPHA:3121
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... OMIM:277380
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia, Single transverse palmar crease OMIM:218550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Abnormal pelvic girdle bone morphology, Growth arrest lines, Lymphopenia, Autoimmu... OMIM:102700
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Hip dislocation, Natal tooth, Delayed eruption of teeth, Gait ataxia, Dysmetria, A... OMIM:614381
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Optic atrophy, Slender long bone, Hypertrichosis, Malar flattening, Right bundle bran... OMIM:618590
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Elevated circulating creatine kinase concentration, Hematuria, Elevated c... ORPHA:231111
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Ulbright-Hodes Syndrome
Abnormal penis morphology, Thin ribs, Renal hypoplasia, Abnormal forearm bone morphology, Fibular... ORPHA:3404
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Multicystic kidney dysplasia, Elbow dislocation, Short thumb, Ectrodactyly, Ol... ORPHA:2538
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... OMIM:230500
Fraser Syndrome 3
Low-set ears, Short toe, Ascites, Oligohydramnios, Micrognathia, Nonimmune hydrops fetalis, Simpl... OMIM:617667
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Delayed eruption of teeth, Micronodular cirrhosis, Splenomegaly, Truncal ataxia,... OMIM:301072
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Alopecia totalis, Ventricular septal defect, Elevate... OMIM:618775
Monosomy 22
Finger syndactyly, Contractures of the large joints, Retrognathia, Schwannoma, Hepatosplenomegaly... ORPHA:96123
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Hearing impairment, Cupped ear, Lymphedema, Ascites... OMIM:616843
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy, Ataxia OMIM:271310
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Rhizomelia, Ectopia pupillae, Long eyelashes, 2-3 toe syndactyly, Recurren... OMIM:615877
Aymé-Gripp Syndrome
Reduced arm span, Limitation of joint mobility, Megalocornea, Delayed cranial suture closure, Rad... ORPHA:1272
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Keutel Syndrome
Short distal phalanx of finger, Alopecia, Optic atrophy, Recurrent sinusitis, Ventricular septal ... ORPHA:85202
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Decreased nerve conduction velocity, Ankle clonus, Loss of ambulation, Prominent ca... ORPHA:565624
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Optic atrophy, Hand polydactyly, Gait disturbance ORPHA:2971
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Fine hair, Camptodac... ORPHA:920
Marden-Walker Syndrome
Multicystic kidney dysplasia, Micrognathia, Ventricular septal defect, Arachnodactyly, Radioulnar... ORPHA:2461
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Short distal phalanx of finger, Optic atrophy, Thick eyebrow, Hirsutism, Fundus atrophy, Scoliosi... ORPHA:1970
Gaucher Disease, Type Iii
Depression, Pancytopenia, Splenomegaly, Thrombocytopenia, Ataxia, Hepatomegaly OMIM:231000
Relapsing Fever
Epistaxis, Acute kidney injury, Hypotension, Elevated circulating hepatic transaminase concentrat... ORPHA:91547
Halperin-Birk Syndrome
Optic atrophy, Pseudobulbar paralysis, Inability to walk, Long eyelashes, Micrognathia, Talipes e... OMIM:618651
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Delayed skeletal matur... ORPHA:85199
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Optic atrophy, Broad thumb, Long eyebrows, Long eyelashes, Widow'... OMIM:201180
3Mc Syndrome 1
Short 5th finger, Lambdoidal craniosynostosis, Coronal craniosynostosis, Highly arched eyebrow, C... OMIM:257920
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Charge Syndrome
Chorioretinal coloboma, Abnormal tibia morphology, Abnormal cranial nerve morphology, Dysphagia, ... ORPHA:138
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Alopecia, Depression, Malar flattening, Wormian bones, Hyperactivity, At... OMIM:601853
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Micrognathia, Reduced bone miner... ORPHA:1556
Charge Syndrome
Lymphopenia, Micrognathia, Ventricular septal defect, Overriding aorta, Radial head subluxation, ... OMIM:214800
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141179
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Optic atrophy, Peters anomaly, Annular pancreas, Lumbar hyperlordosis, Micrognathia,... OMIM:616975
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Malar flattening, Nonimm... OMIM:265300
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Microretrognathia, Ventricular septal defect, Hydronephrosis, Brachydactyly, Atria... ORPHA:457193
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Micrognathia, Broad first metatarsal, Cone-shaped ep... ORPHA:2751
Aicardi-Goutieres Syndrome 5
Flexion contracture, Irritability, Thrombocytopenia, Arthropathy OMIM:612952
Spastic Paraplegia 9A, Autosomal Dominant
Cataract, Abnormal pelvic girdle bone morphology, Urinary incontinence, Delayed skeletal maturati... OMIM:601162
Snakebite Envenomation
Epistaxis, Acute kidney injury, Hypotension, Cardiogenic shock, Neuromuscular dysphagia, Pseudobu... ORPHA:449285
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Tapered toe, Alopecia, Sparse eyebrow, Retrognathia, Sparse scalp hair, ... ORPHA:544488
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Renal insufficiency, Attention deficit hyperactivity d... ORPHA:281090
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Splenomegaly, Multip... OMIM:612301
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu... OMIM:301068
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Tali... ORPHA:500095
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Narrow chest, Thoracic hypoplasia, Hypertrichosis, Trident pelvis, Short humerus, Bowed humerus, ... OMIM:619479
Scheie Syndrome
Aortic regurgitation, Abnormal nerve conduction velocity, Limitation of joint mobility, Joint sti... ORPHA:93474
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mesomelia, Rhizomelia, Mandibular prognathia, Small epiphyses, Genu valgum, Limited elbow extensi... OMIM:271510
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Cerebral vasculitis, Leukocytosis, Hyponatremia, Thrombocytopenia, Abnormal autonomic... ORPHA:83601
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Facial hirsutism, Micrognathia, Sp... OMIM:170100
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... OMIM:127000
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, Thrombocytopenia, Neutropenia, Anemia, Syndactyly OMIM:614520
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Pectus carinatum, Sparse eyebrow, Short 1st m... OMIM:620568
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Sparse hair, Hypoplasia of the maxilla, Carious teeth, Palmoplantar... OMIM:129400
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... ORPHA:99901
Plaa-Associated Neurodevelopmental Disorder
Pectus carinatum, Optic atrophy, Postaxial foot polydactyly, Contractures of the large joints, Mi... ORPHA:521426
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, O... ORPHA:470
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Tremor, Generalized muscle wea... OMIM:619424
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Self-injurious behavior, Highly arched eyebrow, Sensory axonal neuropathy, Gait disturbance, Corn... OMIM:620469
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... OMIM:610333
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Microphthalmia With Linear Skin Defects Syndrome
Micrognathia, Mitral regurgitation, Mitral valve prolapse, Abnormal vitreous humor morphology, Po... ORPHA:2556
Cockayne Syndrome Type 1
Difficulty walking, Delayed eruption of primary teeth, Ataxia, Hepatomegaly, Cataract, Hypoplasia... ORPHA:90321
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Micrognathia, Mitral valve prolapse, Arachnodactyly, Bicuspid aort... OMIM:610168
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Highly arched eyebrow, Retrognathia, Inability to walk, High noncerulopl... ORPHA:457351
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Congestive heart failure, Hypert... OMIM:229300
Vater/Vacterl Association
Abnormal vertebral morphology, Hypospadias, Short thumb, Abnormal rib morphology, Preaxial polyda... OMIM:192350
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Polydactyly, Aganglionic megacolon, Ataxia, Short phalanx o... ORPHA:59315
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Elbow dislocation, Micrognathia, Short neck, Short palm, Hypospadias, Hip disl... ORPHA:3107
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre... OMIM:603553
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Arthrogryposis multiplex congenita, Micrognathia, Atrial septal defect, Bilateral talipes equinov... OMIM:619512
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoplastic... ORPHA:699
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Retinal vascular tortuosity, Preaxial fo... OMIM:619471
Say-Barber-Miller Syndrome
Carious teeth, Abnormality of the hairline, Micrognathia, Impaired neutrophil chemotaxis, Rod-con... ORPHA:3132
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Natal tooth, Clinodactyly, Micrognathia, Sparse eyelashes, Absent eyelashes, Talipes e... OMIM:264090
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Carious teeth, Increased mean corpuscular volume, Aplastic anemia, Premature graying of... OMIM:127550
Holoprosencephaly
Chorioretinal coloboma, Abnormality of the spleen, Ventricular septal defect, Short neck, Arrhyth... ORPHA:2162
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Ventricular septal defect, Short hallux, A... OMIM:616268
Grange Syndrome
Brachydactyly, Finger clinodactyly, Syndactyly OMIM:602531
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Abnormality of the ureter, Micrognathia, B... OMIM:249000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Oligosacchariduria, Hypertrophic cardiomyopathy, Difficulty walking, Inability to wal... ORPHA:365
Warburg Micro Syndrome 2
Cataract, Microcornea, Optic atrophy, Overlapping toe, Low anterior hairline, Clinodactyly of the... OMIM:614225
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Carious teeth, Aplastic anemia, Pterygium, Pancytopenia, Nail dystrophy, Sparse... OMIM:224230
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Decre... ORPHA:158061
Gaucher Disease Type 3
Aortic valve calcification, Pancytopenia, Hematuria, Ataxia, Hepatomegaly, Delayed skeletal matur... ORPHA:77261
Lcat Deficiency
Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat... ORPHA:650
Fetal Cytomegalovirus Syndrome
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorr... ORPHA:294
Orofaciodigital Syndrome I
Sparse hair, Hepatic fibrosis, Alopecia, Carious teeth, Microretrognathia, Clinodactyly, Radial d... OMIM:311200
Steinfeld Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Retinal coloboma, Abnormal he... OMIM:184705
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Supernumerary nipple, Abnormality of retinal pigmentation, Ataxia, Clinodactyly of... ORPHA:1173
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Pectus carinatum, Optic atrophy, Contractures of the large joints, Micrognathia, Single transvers... OMIM:617527
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Jaundice, Hypoproteinemi... ORPHA:167
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropen... OMIM:598500
Zttk Syndrome
Small hand, Absent gallbladder, Ventricular septal defect, Atrial septal defect, Curly hair, Shor... OMIM:617140
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation... OMIM:155100
Hennekam-Beemer Syndrome
Mastocytosis, Hypotension, Optic atrophy, Delayed cranial suture closure, Camptodactyly of finger... ORPHA:2135
X-Linked Agammaglobulinemia
Alopecia, Hepatitis, Osteomyelitis, Hypocalcemia, Sinusitis, Thrombocytopenia, Neutropenia, Anemi... ORPHA:47
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Micrognathia, Thick eyebrow, Corneal opacity, Conjunctivitis, Synophrys OMIM:602562
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Micromelia, Tetralogy of Fallot, Micrognathia, Situs inversus totalis, Ventric... ORPHA:1908
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly OMIM:119580
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Muscle weakness OMIM:232800
Gaucher Disease, Perinatal Lethal
Hepatic failure, Retrognathia, Thoracic hypoplasia, Hepatosplenomegaly, Akinesia, Micrognathia, S... OMIM:608013
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Cone-shaped epiphysis, Atrioventricular canal defect, Horseshoe kidney, Splenomegal... OMIM:617088
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricul... OMIM:300967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic atrophy, Peters anomaly, Congenital contracture, Megalocornea, Micrognathia, Elev... OMIM:236670
Goldberg-Shprintzen Megacolon Syndrome
Iris coloboma, Sparse eyebrow, Finger syndactyly, Aganglionic megacolon, Hypospadias, Sparse scal... ORPHA:66629
Chediak-Higashi Syndrome
Iris hypopigmentation, Ataxia, Silver-gray hair, Hemophagocytosis, Ocular albinism, Decreased ner... OMIM:214500
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Aniridia, Micrognathia, Corneal opacity, Craniosynostosis, Development... ORPHA:1064
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypospadias, Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Hyp... ORPHA:17
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Cholestasis, Hyperbilirubinemia, Dark urin... OMIM:619534
Holocarboxylase Synthetase Deficiency
Alopecia, Organic aciduria, Anorexia, Hyperammonemia, Irritability, Keratoconjunctivitis, Thrombo... ORPHA:79242
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone ORPHA:3074
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Brittle hair, Curly hair, Sparse eyelashes, Pi... OMIM:602400
Noonan Syndrome 1
Clinodactyly, Micrognathia, Ventricular septal defect, Synovitis, Low posterior hairline, Short n... OMIM:163950
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Delayed cranial suture clo... OMIM:603116
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Mandibular prognathia, Hearing impairment, Short toe, Malar flatt... OMIM:239300
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Elevated urine acetoacetic acid level, Optic atrophy, Alpha-aminoadipic aciduria, Cardi... OMIM:620089
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Facial paralysis, Abnormal optic nerve morphology, Decreased motor nerve conductio... ORPHA:99949
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Hypoplasia of t... ORPHA:989
3Mc Syndrome
Highly arched eyebrow, Caudal appendage, Supernumerary nipple, Spina bifida occulta, Radioulnar s... ORPHA:293843
8P11.2 Deletion Syndrome
Iris coloboma, Microcornea, Micrognathia, Splenomegaly, Mitral valve prolapse, Supernumerary ribs... ORPHA:251066
Dermochondrocorneal Dystrophy
Joint subluxation, Anterior cortical cataract, Irregular tarsal ossification, Subepithelial corne... OMIM:221800
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... ORPHA:824
Nijmegen Breakage Syndrome
Sandal gap, Retinal pigment epithelial mottling, Malar prominence, Micrognathia, Autoimmune hemol... OMIM:251260
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Vasculitis, Autoimmune hemolytic anemia, Splenomegaly, El... OMIM:603909
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Rhizomelia, Narrow chest, Congestive heart failure, Lumbar hyperlordosis, Femoral ... OMIM:616482
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Joint hypermobility, Gait disturbance, Keratoglob... OMIM:614170
Maternal Uniparental Disomy Of Chromosome 6
Rod-cone dystrophy, Accelerated bone age after puberty, Slender long bone, Thrombocytopenia ORPHA:96181
Joubert Syndrome 1
Nephropathy, Hepatic fibrosis, Highly arched eyebrow, Postaxial foot polydactyly, Clinodactyly, C... OMIM:213300
Coccidioidomycosis
Vasculitis, Vasospasm, Abnormality of the vertebral column, Abnormality of the spleen, Osteomyeli... ORPHA:228123
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Hepatomegaly, M... OMIM:226990
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Ventricular septal defect, Arachnodactyly, Bicuspid aortic valve, Overfriend... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Ventricular septal defect, Arachnodactyly, Bicuspid aortic valve, Overfriend... ORPHA:363958
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Single transverse palmar creas... OMIM:617425
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Rhizomelia, Thrombocytopenia OMIM:618116
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... OMIM:210250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Palmoplantar keratoderma, Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversi... OMIM:611528
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated circulati... ORPHA:275555
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Small hand, Single transverse palmar crease, Ventricular septal defect, Shortened ... OMIM:614947
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Recurrent fr... OMIM:166220
Eec Syndrome
Toe syndactyly, Carious teeth, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypospadias, C... ORPHA:1896
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Optic atrophy, Elevated circulating hepatic tra... ORPHA:480864
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Broad-based gait, Mandibular prognathia, Self-injurious behav... ORPHA:72
Enlarged Parietal Foramina
Short clavicles, Craniosynostosis, Broad thumb ORPHA:60015
Toluene Embryopathy
Hydronephrosis, Micrognathia, Hypoplasia of the zygomatic bone, Tapered finger ORPHA:1920
Glycogen Storage Disease Ii
Sinus tachycardia, Difficulty walking, Splenomegaly, Elevated circulating creatine kinase concent... OMIM:232300
Liver Disease, Severe Congenital
Dry hair, Portal inflammation, Dilatation of the ventricular cavity, Micrognathia, Hyperbilirubin... OMIM:619991
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Restlessness, Abnormal fear-induced behavior, Purple urine... ORPHA:100924
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... OMIM:618462
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Chilton-Okur-Chung Neurodevelopmental Syndrome
Micrognathia, Chordee, Sparse hair, Hypospadias, Self-injurious behavior, Slender finger, Sparse ... OMIM:619841
Proteus Syndrome
Rib exostoses, Carious teeth, Finger syndactyly, Chorioretinal coloboma, Generalized hirsutism, A... ORPHA:744
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, 11 pairs of ribs, Micrognathia, Ventricular septal defect, 2-3 toe syndactyly,... OMIM:620025
Scalp-Ear-Nipple Syndrome
Broad thumb, Finger syndactyly, Sparse hair, Iris coloboma, Cataract, Sparse pubic hair, Breast a... OMIM:181270
Craniofacial Microsomia 1
Block vertebrae, Hypoplasia of the maxilla, Multicystic kidney dysplasia, Cervical ribs, Tetralog... OMIM:164210
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Cardiomyopathy, Leukopenia, Stage 5 chronic kidney disease, Hyperglycinem... OMIM:251000
Cockayne Syndrome Type 3
Lentiglobus, Carious teeth, Dry hair, Premature graying of hair, Difficulty walking, Peripheral a... ORPHA:90324
Restrictive Dermopathy 2
Short clavicles, Hypoplastic facial bones, Microretrognathia, Overtubulated long bones OMIM:619793
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Mitral valve prolapse, Ventricular septal defect, Contract... OMIM:300166
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane OMIM:148200
Shigellosis
Hypovolemic shock, Acute kidney injury, Hepatic failure, Microangiopathic hemolytic anemia, Ureth... ORPHA:810
Friedreich Ataxia
Optic atrophy, Falls, Sensory axonal neuropathy, Cardiomyopathy, Urinary bladder sphincter dysfun... ORPHA:95
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Ankle flexion contracture, Unilateral renal agenesis, Microretrognathia,... ORPHA:468631
Fish-Eye Disease
Splenomegaly, Angina pectoris, Corneal opacity, Decreased HDL cholesterol concentration, Hepatome... ORPHA:79292
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndacty... ORPHA:2473
Townes-Brocks Syndrome
Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Chorioretinal coloboma, Atrial septal... ORPHA:857
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Epistaxis, Thrombocytopenia OMIM:616176
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney, Vertebral seg... ORPHA:3109
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Hypoplastic ilia, Flared metaphysis, Carpal synostosis, Dysplasia of the fe... OMIM:615349
Pseudo-Torch Syndrome 2
Thin ribs, Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect... OMIM:617397
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Abnormal heart valve m... ORPHA:464343
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Dysphagia, Impulsivity, Abnormal rib morphology ORPHA:280195
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy, Skeletal musc... ORPHA:79083
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hepatomegaly, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:2123
Chromosome 1P36 Deletion Syndrome, Distal
Abnormality of the hairline, Ventricular septal defect, Bicuspid aortic valve, Polyphagia, Atrial... OMIM:607872
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Low posterior hairline, Short neck, Abnormal rib morphology, Ectop... ORPHA:2578
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Broad-based gait, Multicystic kidney dysplasia, Hyphema, Ectopia pupillae,... ORPHA:261552
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... OMIM:251880
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,... ORPHA:182050
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Lymphopenia, Overlapping fingers, Micrognathia, Knee flexion contracture, Dysmetri... OMIM:619708
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Optic atrophy, Elevated circulating hepatic tra... OMIM:616878
Pseudo-Torch Syndrome 3
Acute kidney injury, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Pr... OMIM:618886
Coffin-Siris Syndrome 12
Broad thumb, Delayed cranial suture closure, Micrognathia, Radioulnar synostosis, Hypospadias, Mo... OMIM:619325
Curry-Jones Syndrome
High anterior hairline, Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe sy... OMIM:601707
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Abno... ORPHA:98826
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Alopecia, Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, Corneal o... ORPHA:79396
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Myoglobinuria, Arrhythmia, Urinary incontinence, Tachycardia, Hyperkalemia, Dy... ORPHA:94093
Acrocallosal Syndrome
Postaxial foot polydactyly, Toe syndactyly, Finger syndactyly, Hypospadias, Preaxial hand polydac... OMIM:200990
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca... OMIM:617247
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Retinal hemorrhage, Emotional lability, Hematuria, Neutrophilia, Hepatomegaly, Tach... ORPHA:99827
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Intracranial hemorrhage, Thrombocytopenia,... ORPHA:85212
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hypospadias, 11 pairs of ribs, Ventricular septal defect, Hemivert... ORPHA:77298
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Craniofacial hyperostosis, Alopecia, Retinopathy, Bone cyst, Tricuspid val... ORPHA:2396
Pfeiffer Syndrome Type 3
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Limitation of joint mobility, Tracheo... ORPHA:93260
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Lumbar scoliosis, Abnormal finger morphology,... ORPHA:79500
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ophthalmoparesis, Ragged-red muscle fibers, Proxi... ORPHA:70595
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced... OMIM:173590
Gapo Syndrome
Keratoconus, Delayed cranial suture closure, Megalocornea, Micrognathia, Bell-shaped thorax, Spar... OMIM:230740
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Sparse eyebrow, Optic nerve hypoplasia, Long eyelashes, Micrognathia, Low anter... ORPHA:495875
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Generalized bone demin... OMIM:215250
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Optic atrophy, Epiphyseal stippling, Hyperoxaluria, Renal cyst, Cirrhosis, Rod-... OMIM:601539
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic lymphatic leukemia, Acute myeloid leukemia, Neutrophilia, Hepatomegaly, Tachycardia, Myel... ORPHA:98849
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Peripheral demyelination, Hypomethioninemia, Neutropenia, Ataxia, Jaundice, Macular coloboma, Met... ORPHA:79282
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Low-set ears, Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Micrognathia, Malar flat... OMIM:225060
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Retinal coloboma, Short ribs, ... OMIM:616546
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase c... OMIM:619463
Aicardi-Goutieres Syndrome 1
Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Inability to... OMIM:225750
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop... ORPHA:859
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splenomegaly, Thrombocytopenia, He... ORPHA:3226
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Neuroblastoma
Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Pathologic frac... ORPHA:635
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ... ORPHA:93941
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Scoliosis, Thrombocytopenia OMIM:616577
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Palpitations, Leukocytosis, Anemia of inadequate production, Ab... ORPHA:86839
Hennekam Syndrome
Narrow chest, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Retrognathia... ORPHA:2136
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Broad-based gait, Multicystic kidney dysplasia, Long hallux, Genu valgum, ... ORPHA:261537
Restrictive Dermopathy 1
Natal tooth, Increased anterioposterior diameter of thorax, Micrognathia, Sparse eyelashes, Absen... OMIM:275210
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Emotional lability, Ventricular septal defect, Hair-pulling, Polyphagia, Short ... OMIM:620330
Avian Influenza
Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, He... ORPHA:454836
Sandhoff Disease
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... OMIM:268800
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Q Fever
Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart va... ORPHA:781
Carpenter Syndrome 2
Broad thumb, Carious teeth, Supernumerary nipple, Cutaneous finger syndactyly, Talipes equinovaru... OMIM:614976
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Fraser Syndrome 1
Renal hypoplasia, Dental malocclusion, Aplasia/Hypoplasia of the sternum, Abnormal heart morpholo... OMIM:219000
Combined Oxidative Phosphorylation Deficiency 19
Poor head control, Increased variability in muscle fiber diameter OMIM:615595
Kagami-Ogata Syndrome
Limitation of joint mobility, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Kyphoscolios... ORPHA:254519
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Anorexia, Tachycardia, Jaundice, Shock, Eleva... ORPHA:99826
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Ayme-Gripp Syndrome
Craniofacial asymmetry, Delayed cranial suture closure, Malar flattening, Nail dystrophy, Radioul... OMIM:601088
Monosomy 9P
Hypospadias, Highly arched eyebrow, Limitation of joint mobility, Abnormality of the vertebral co... ORPHA:261112
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Optic atrop... ORPHA:99956
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Hypoplasia of the zygomatic bone, Talipes equinovarus, Intraventricular hemorr... OMIM:613603
Arima Syndrome
Postaxial foot polydactyly, Chorioretinal coloboma, Hepatic steatosis, Hematuria, Cirrhosis, Tubu... OMIM:243910
Wiskott-Aldrich Syndrome
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Arrh... ORPHA:906
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Decreased circulating ... OMIM:201750
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Limb dystonia, Myopathy OMIM:604377
Hypoglossia-Hypodactylia
Adactyly, Micrognathia, Split hand, Retrognathia OMIM:103300
Primary Hyperoxaluria
Chronic kidney disease, Hematuria, Optic disc pallor, Heart block, Choroidal neovascularization, ... ORPHA:416
Microphthalmia, Syndromic 1
Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Bicuspid aortic valve, Hypos... OMIM:309800
Giant Cell Arteritis
Vasculitis, Epistaxis, Depression, Abnormality of thrombocytes, Hepatic failure, Double outlet ri... ORPHA:397
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrod... ORPHA:85165
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Lupus nephritis, Arthritis, Thrombocytopenia, Hemolytic anemia, Pericarditis OMIM:152700
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Reduced haptoglobin level, Keratoconjunctivitis, Poikilocytosis, Unconjuga... ORPHA:79277
Thyrocerebrorenal Syndrome
Nephritis, Nonprogressive cerebellar ataxia, Renal insufficiency, Thrombocytopenia ORPHA:3327
Boutonneuse Fever
Vasculitis, Elevated circulating hepatic transaminase concentration, Abnormal skin morphology of ... ORPHA:83313
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia, ... OMIM:613839
Chronic Visceral Acid Sphingomyelinase Deficiency
Cherry red spot of the macula, Hypersplenism, Increased LDL cholesterol concentration, Cirrhosis,... ORPHA:77293
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon, Thrombocytopenia, Dysphagia OMIM:615750
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Hypertrichosis, Clinodactyly of the 5th ... OMIM:210900
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Micrognathia, Hepatic steatosis, Ventricular septal defect, Elevated circulati... OMIM:619525
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Optic atrophy, Broad thumb, Short nail, Thumb contracture, Long eyelashes, Thick eyebrow, Joint c... ORPHA:324540
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Abnormality of the vertebral column, Micrognathia, Sprengel anomaly, A... OMIM:601076
Tularemia
Leukocytosis, Conjunctival hyperemia, Thrombocytopenia, Anemia, Conjunctivitis, Tachycardia ORPHA:3392
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elev... ORPHA:308552
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Elevated circulating hepatic transaminase concentration, Stiff neck, Lymph... ORPHA:319213
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... OMIM:231200
Flat Face-Microstomia-Ear Anomaly Syndrome
Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the zygomatic bone, Camptodactyly of finger,... ORPHA:1968
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles, Widely patent fontanelles and sutures OMIM:168550
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Myopathy, Delayed puberty, Short stature, Muscle ... OMIM:611881
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choled... ORPHA:480520
Dyskeratosis Congenita, X-Linked
Carious teeth, Premature graying of hair, Pancytopenia, Sparse eyelashes, Acute myeloid leukemia,... OMIM:305000
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Hyperkalemic Periodic Paralysis
Ophthalmoparesis, Skeletal muscle atrophy, Episodic flaccid weakness, Myopathy, Flexion contractu... ORPHA:682
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Pediatric Systemic Lupus Erythematosus
Nephritis, Alopecia, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Dark urine, Rena... ORPHA:93552
Tick-Borne Encephalitis
Depression, Elevated circulating hepatic transaminase concentration, Stiff neck, Limb pain, Leuko... ORPHA:297
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Arachnodactyly, Atrial septal defect, Curly hair, Dysphagia, Hypoplasia of th... ORPHA:500150
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Cupped ear, Finger syndactyly, Hearing impairment, Atresia of the external audito... ORPHA:264200
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Lysinuric Protein Intolerance
Hemophagocytosis, Pulmonary hemorrhage, Hepatomegaly, Sparse hair, Hypolysinemia, Aminoaciduria, ... OMIM:222700
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Elevated... ORPHA:66634
Branchiooculofacial Syndrome
Premature graying of hair, Supernumerary nipple, Micrognathia, White forelock, Low posterior hair... OMIM:113620
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Dengue Fever
Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Thrombocytopenia, Cerebral hemor... ORPHA:99828
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microcornea, Retrognathia, Trichorrhexis nodosa, Nail dystrophy, Ventricular septa... OMIM:234050
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Hypertriglyce... ORPHA:31150
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Polyarticular arthritis, Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Microcornea, Toe syndactyly, Renal hypoplasia, Finger syndactyly, Re... OMIM:607932
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Hypomethioninemia, Hematuria, Neutropenia, Hepatomegaly, Tachycardia, Methylmalonic ... OMIM:277400
Incontinentia Pigmenti
Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Sparse hair, Cataract, Alopeci... OMIM:308300
Williams-Beuren Syndrome
Premature graying of hair, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect... OMIM:194050
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Biconcave vertebral bodies, Nephrolithiasis, ... OMIM:219090
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Cerebrotendinous Xanthomatosis
Cataract, Cholelithiasis, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis,... OMIM:213700
Mowat-Wilson Syndrome
Aortic valve stenosis, Broad-based gait, Multicystic kidney dysplasia, Genu valgum, Axenfeld anom... ORPHA:2152
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypospadias, Small hand, Optic atrophy, Clinodactyly, Delayed skeletal maturation, Overlapping to... OMIM:309590
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Micrognathia, Hypersplenism, Congenital hepatic fibrosis, Increa... ORPHA:731
Amyloidosis, Hereditary Systemic 1
Cardiomyopathy, Limb ataxia, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, ... OMIM:105210
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pr... OMIM:613845
Fontaine Progeroid Syndrome
Micrognathia, Low posterior hairline, Bicuspid aortic valve, Atrial septal defect, Syndactyly, Co... OMIM:612289
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Elevated circulating propionylcarnitin... OMIM:251110
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Sacral dimple ORPHA:1643
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph... ORPHA:340
Juvenile Polyposis Of Infancy
Midclavicular hypoplasia, Hypoalbuminemia, Intestinal bleeding, Broad thumb, Gastrointestinal hem... ORPHA:79076
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Optic d... ORPHA:438213
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemol... OMIM:304790
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Optic atrophy, Depression, Joint stiffness, Abnormal hemoglobin, Hydrone... ORPHA:847
Acquired Purpura Fulminans
Hepatic failure, Shock, Internal hemorrhage, Thrombocytopenia, Elevated circulating C-reactive pr... ORPHA:49566
Sepsis In Premature Infants
Hypotension, Oliguria, Decreased liver function, Leukocytosis, Splenomegaly, Reversible renal fai... ORPHA:90051
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... ORPHA:36426
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia OMIM:613554
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, 3-Me... OMIM:557000
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... ORPHA:537
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Restrictive Dermopathy
Thin ribs, Natal tooth, Increased anterioposterior diameter of thorax, Micrognathia, Decreased sk... ORPHA:1662
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hepatitis, Increased circulating ferritin concentration, Hypertrophic c... OMIM:615846
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Pseudoaminopterin Syndrome
Slender finger, Hypoplasia of the antihelix, Synostosis of carpal bones, Short thumb, Talipes val... ORPHA:221120
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Malar flattening, Palm... ORPHA:1555
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov... ORPHA:672
Ichthyosis, X-Linked
Palmar hyperlinearity, Opacification of the corneal stroma, Palmoplantar keratoderma OMIM:308100
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Difficulty walking, Dysmetria, Aggressive behavior, Thrombocytopenia, Ataxia, Rod... ORPHA:572798
Loeys-Dietz Syndrome 1
Micrognathia, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Talipes equinovarus, ... OMIM:609192
Immunodeficiency 87 And Autoimmunity
Biventricular hypertrophy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Hepatic steatosis, ... OMIM:619573
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Poor head control, Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Constricting Bands, Congenital
Abnormal rib cage morphology, Talipes equinovarus, Hand polydactyly, Ectopia cordis, Scoliosis, B... OMIM:217100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Pancytopenia, Hepatosplenomegaly, Ataxia, Hepatomegaly, Elevated circulating C-react... OMIM:615688
Necrotizing Enterocolitis
Hypotension, Abnormal heart morphology, Shock, Leukocytosis, Bradycardia, Hyponatremia, Peritonit... ORPHA:391673
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral ... OMIM:120200
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Depression, Emotional lability, Motor axonal neuropathy, Elevated circulating crea... OMIM:614298
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:620376
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... OMIM:620486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Spinal rigidity, Cataract, Optic atrophy, Dilated cardiomyopathy, Retinal dysplasia, Elevated cir... OMIM:253800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Deviation of the 2nd finger, Optic atrophy, Cerulean ca... ORPHA:67036
Immunodeficiency 46
Anemia, Conjunctivitis, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption of tee... ORPHA:1071
Acute Promyelocytic Leukemia
Epistaxis, Diffuse alveolar hemorrhage, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Hematur... ORPHA:520
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Pos... OMIM:604229
Fetal Akinesia Deformation Sequence 1
Thin ribs, Congenital contracture, Slender long bone, Thoracic hypoplasia, Camptodactyly of finge... OMIM:208150
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocyt... OMIM:618278
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... ORPHA:494444
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Hemorrhage of... ORPHA:91495
Proboscis Lateralis
Cataract, Microcornea, Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, U... ORPHA:141099
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic ... ORPHA:101016
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Renal insufficiency, Decreased circulating renin level, Hypokalemia... ORPHA:320
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Leptospirosis
Pulmonary hemorrhage, Macular cotton wool spot, Arrhythmia, Anorexia, Hepatomegaly, Jaundice, Acu... ORPHA:509
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Finger syndactyly, Short toe, Tetralogy of Fallot, Thick eyebrow, Ventricu... ORPHA:1519
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy OMIM:208000
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Splenomegaly, Amelogenesis imperfecta, Thrombocytopenia, Hypocalcificatio... ORPHA:169090
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Finger syndactyly, Micrognathia, Down-sloping shoulders, Joint hypermobili... ORPHA:1974
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Hematuria, Su... OMIM:185070
Stt3B-Cdg
Micropenis, Optic atrophy, Thrombocytopenia ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Optic atrophy, Thrombocytopenia OMIM:615597
Isovaleric Acidemia
Hyperglycinuria, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, Elevated urin... OMIM:243500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Increased size of the mandible, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Cataract, Hypospadias, Pigmentary retinopathy, Peters anomaly, Hi... OMIM:309801
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Inability to walk,... OMIM:620066
Combined Oxidative Phosphorylation Deficiency 25
Pectus carinatum, Intraventricular hemorrhage, Syndactyly OMIM:616430
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Transient ische... OMIM:274150
Castleman Disease
Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Hematuria, Jaundice, Eleva... ORPHA:160
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Microcornea, Hypoplasia of the maxilla, Abnormal heart morphology, Opacification of ... OMIM:601499
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Retinopathy, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:158029
Lipe-Related Familial Partial Lipodystrophy
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:435660
Tyrosinemia Type 2
Ataxia, Palmoplantar keratoderma, Malar flattening, Corneal opacity ORPHA:28378
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Hydronephrosis, ... ORPHA:1780
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Premature graying of hair, Lymphopenia, Portal hypertension, Nail dystrophy, Thromboc... OMIM:620365
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hypernatriuria, Decreased circulating renin level, Hyponatremia... OMIM:300539
Monosomy 13Q14
Cataract, Finger syndactyly, Micrognathia, Retinoblastoma, Aplasia/Hypoplasia of the thumb, Short... ORPHA:1587
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Enlargement of the ankles, Metaphyseal cupping, Irregular iliac crest, Retrognathia, Abnormal joi... ORPHA:99646
Thyrotoxic Periodic Paralysis
Ophthalmoparesis, Lower limb muscle weakness, Episodic flaccid weakness, Tremor, Rhabdomyolysis, ... ORPHA:79102
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Oculoectodermal Syndrome
Microcornea, Supernumerary nipple, Hypertrophic cardiomyopathy, Transient ischemic attack, Astigm... OMIM:600268
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Hyperglycinemia, Partial atrioventricular canal defect, Agitation, Ankl... OMIM:620423
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Hepatomegaly, Elevated circu... ORPHA:457077
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Abnormal hair morphology, Prominent floating ribs OMIM:152800
Genitopatellar Syndrome
Multicystic kidney dysplasia, Micrognathia, Patellar aplasia, Hip contracture, Ventricular septal... OMIM:606170
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy... ORPHA:51
Sarcoidosis
Arrhythmia, Tubulointerstitial nephritis, Hepatomegaly, Heart block, Cataract, Alopecia, Renal in... ORPHA:797
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Low-set ears, Absent crus of helix, Joint dislocation, Microtia,... ORPHA:2753
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoamylasemia, Hypoplasia of the zygomatic bone, Absent gallbladder, Reduced C-peptide level, Ap... ORPHA:556955
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Pulmonary venous hypertension, Hemat... ORPHA:90060
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
African Trypanosomiasis
Difficulty walking, Hepatosplenomegaly, Arrhythmia, Urinary incontinence, Hepatomegaly, Jaundice,... ORPHA:3385
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Aplasia of the ulna, Endocardial fibroelastosis OMIM:276822
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, G... ORPHA:289390
Norrie Disease
Self-injurious behavior, Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnorma... ORPHA:649
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Ataxia OMIM:274240
Rift Valley Fever
Macular edema, Elevated circulating hepatic transaminase concentration, Hepatitis, Anorexia, Reti... ORPHA:319251
Neu-Laxova Syndrome 1
Cataract, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Microme... OMIM:256520
Alternating Hemiplegia Of Childhood
Mydriasis, Cardiomyopathy, Abnormal T-wave, Oral-pharyngeal dysphagia, Anorexia, Thin eyebrow, Ca... ORPHA:2131
Cerebrofaciothoracic Dysplasia
Narrow chest, Coarse hair, Thick eyebrow, Vertebral segmentation defect, Rib fusion, Low posterio... ORPHA:1394
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cholangitis, Ankle clonus, Cirrhosis, Thro... OMIM:308230
Immune Thrombocytopenia
Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Hematuria, Thrombocytopenia, Cereb... ORPHA:3002
De Sanctis-Cacchione Syndrome
Optic atrophy, Keratitis, Bilateral coxa valga, Axonal degeneration, Telangiectasia, Scissor gait... OMIM:278800
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Edema, Mesoaxial hand polydactyly, Postaxial hand polydactyly, Pedal ... OMIM:236700
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circ... ORPHA:158048
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Peritonitis, Tooth abscess, Thrombocytopenia, Sinusitis, Decreas... ORPHA:2686
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Congestive heart fa... OMIM:601992
Slc35A1-Cdg
Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Gray Platelet Syndrome
Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl... OMIM:139090
Digeorge Syndrome
Micrognathia, Intervertebral disk degeneration, Hepatic steatosis, Ventricular septal defect, Pos... OMIM:188400
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Genitourinary And/Or Brain Malformation Syndrome
Joint stiffness, Micrognathia, Astigmatism, Kyphoscoliosis, Chordee, Attention deficit hyperactiv... OMIM:618820
Encephalocraniocutaneous Lipomatosis
Alopecia, Hypoplasia of the iris, Ventricular septal defect, Hydronephrosis, Subvalvular aortic s... OMIM:613001
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Broad thumb, Finger syndactyly, Delayed cranial suture closure, Preaxi... ORPHA:2211
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia, Thrombocytopenia ORPHA:1237
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... OMIM:615220
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Micrognathia, Supe... ORPHA:3145
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
X-Linked Mandibulofacial Dysostosis
Hypoplasia of the zygomatic bone, Micrognathia, Abnormal mitral valve morphology, Aplasia/Hypopla... ORPHA:1131
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Kyphosis, Congestive heart failure, Splenomegaly, Macrocytic a... OMIM:615512
Hermansky-Pudlak Syndrome 5
Epistaxis, Albinism, Ocular albinism, Impaired ADP-induced platelet aggregation, Hypoplasia of th... OMIM:614074
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Functional abnormality of the bladder, Hepatitis, Delayed skeletal maturation, Conges... ORPHA:391487
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Pancytopenia, Hyperglycinemia, Hyperammonemia, Elevated urine ... OMIM:251100
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Macro... OMIM:613150
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, Retrognathia, Glandular hypospadias, Penile hypospadias, Joint hypermobility, Penoscro... ORPHA:456328
Steinert Myotonic Dystrophy
Oral-pharyngeal dysphagia, Emotional lability, Obsessive-compulsive trait, Talipes equinovarus, P... ORPHA:273
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence ... OMIM:187900
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental malocclu... OMIM:614188
Limb-Mammary Syndrome
Toe syndactyly, Oligodactyly, Malar flattening, Protruding ear, Primary amenorrhea, Clinodactyly ... ORPHA:69085
Pontine Tegmental Cap Dysplasia
Dysmetria, Ankle clonus, Rib fusion, Dysphagia, Hemivertebrae, Ataxia, Facial palsy, Scoliosis OMIM:614688
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Autosomal Dominant Hypocalcemia
Optic atrophy, Nephrocalcinosis, Hypotension, Hyperphosphatemia, Depression, Alopecia, Hypomagnes... ORPHA:428
Microphthalmia/Coloboma 9
Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma,... OMIM:615145
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... OMIM:301078
Rutherfurd Syndrome
Opacification of the corneal stroma, Failure of eruption of permanent teeth, Corneal dystrophy, D... OMIM:180900
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Yellow Fever
Pancreatic hyperplasia, Hyperbilirubinemia, Elevated circulating alanine aminotransferase concent... ORPHA:99829
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Arrhythmia, Pancreatic islet cell adenoma, Retinal detachme... ORPHA:892
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Gait ataxia, Renal insufficienc... OMIM:254900
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Renal hypoplasia, Alopecia, Genu valgum, Leukocytosis, Hepatic steatosis, Micropen... OMIM:619321
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Keratoconjunctivitis sicca, Sclerocornea, Sparse hair, Corneal ... ORPHA:1806
Polymyositis
Proximal muscle weakness, Abnormal muscle fiber morphology ORPHA:732
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Delayed eruption of primary teeth, Ventricul... OMIM:300952
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Limbal stem cell deficiency, Delayed eruption of p... OMIM:149730
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Retinitis Pigmentosa 74
Posterior polar cataract, Pigmentary retinopathy, Polydactyly, Rod-cone dystrophy, Optic disc pallor OMIM:616562
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Thrombocyto... OMIM:603554
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Abnormal EKG, Leukonychia, Sparse eyelashes, Sparse axillary ha... OMIM:613102
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Chorioretinal coloboma, Pseudoepiphyses of second meta... OMIM:107480
Vexas Syndrome
Arteritis, Macrocytic anemia, Thrombocytopenia, Arthritis, Elevated circulating C-reactive protei... OMIM:301054
Hyperoxaluria, Primary, Type I
Optic atrophy, Nephrocalcinosis, Atrioventricular block, Arterial occlusion, Choroidal neovascula... OMIM:259900
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving the shoulder musculature, Sparse eyebrow, Supernumerary nipple, Low ... ORPHA:1521
Chronic Thromboembolic Pulmonary Hypertension
Depression, Increased HDL cholesterol concentration, Right ventricular failure, Pulmonary embolis... ORPHA:70591
Treacher-Collins Syndrome
Cataract, Hypoplasia of the maxilla, Abnormality of the vertebral column, Hypoplasia of the zygom... ORPHA:861
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Aortic regurgitation, Abnormal heart morph... ORPHA:3384
Alström Syndrome
Chronic kidney disease, Frontal balding, Hepatosplenomegaly, Hepatic steatosis, Cone/cone-rod dys... ORPHA:64
Tufted Angioma
Anemia, Thrombocytopenia, Hypertrichosis ORPHA:1063
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Hypoplasia of the zygomatic bone, Cutaneous finger syndactyly, Aplastic zygomatic... OMIM:200110
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Alopecia, Hypotriglyceridemia, Biliary cirrhosis, Glycosuria, Abnorma... ORPHA:2298
Hartsfield Syndrome
Hypoplasia of the frontal bone, Ectrodactyly, Micropenis, Craniosynostosis, Hypospadias, Hypernat... OMIM:615465
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Elevated circulating creatini... ORPHA:230
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Increased urinary potassium, Decreased circulating reni... ORPHA:231625
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the fundus, Ocular albinism, Leukopenia, Abnormal platelet aggregation, Throm... OMIM:614171
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... OMIM:603671
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Nail dystrophy, Abnormal leukocy... ORPHA:3322
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa... ORPHA:331206
Acute Liver Failure
Gastrointestinal hemorrhage, Acute kidney injury, Hypotension, Depression, Elevated circulating h... ORPHA:90062
Alport Syndrome 1, X-Linked
Anterior lenticonus, Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria,... OMIM:301050
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper ac... OMIM:614946
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Low anterior hairline, Hypoplasia... OMIM:617666
Acute Radiation Syndrome
Cataract, Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia ORPHA:454831
Adult Syndrome
Alopecia, Toe syndactyly, Absent nipple, Finger syndactyly, Fine hair, Sparse scalp hair, Breast ... ORPHA:978
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture, Situs inversus totalis, Optic nerve hypoplasia OMIM:614833
Kikuchi-Fujimoto Disease
Ataxia, Vasculitis, Alopecia, Elevated circulating hepatic transaminase concentration, Anorexia, ... ORPHA:50918
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Beckwith-Wiedemann Syndrome
Nephropathy, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal pancreas morphol... ORPHA:116
Xeroderma Pigmentosum
Aminoaciduria, Cataract, Craniofacial hyperostosis, Alopecia, Keratitis, Optic atrophy, Delayed s... ORPHA:910
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Slender finger, Renal hypoplasia, Optic atrophy, Clinodactyly, Radial deviation of finger, Delaye... OMIM:309580
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Thrombocytop... ORPHA:319218
Holocarboxylase Synthetase Deficiency
Alopecia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, Irrit... OMIM:253270
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Immunodeficiency 40
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616433
Bleeding Disorder, Platelet-Type, 21
Alopecia, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregat... OMIM:617443
Thrombocytopenia, Anemia, And Myelofibrosis
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis OMIM:617441
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:616937
Hellp Syndrome
Acute kidney injury, Hypotension, Elevated circulating hepatic transaminase concentration, Microa... ORPHA:244242
Knobloch Syndrome 1
Band keratopathy, Horizontal eyebrow, Vitreoretinopathy, Bifid ureter, Attenuation of retinal blo... OMIM:267750
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Polydipsia, Palpitations, Increased urinary potassium, Decreased circulating renin lev... ORPHA:231580
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Thick eyebrow, Short humerus, Irritability, Dysphagia, Short femur, Tapered finger OMIM:618367
Aregenerative Anemia
Depression, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Emotional lability... ORPHA:101096
Rodrigues Blindness
Sclerocornea, Microcornea, Sparse hair, Fine hair OMIM:268320
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Cirrhosis, Nail dystrophy, Thrombocytopenia OMIM:613987
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Pectus excavatum, Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced... ORPHA:980
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Fraser Syndrome
Toe syndactyly, Dental malocclusion, Finger syndactyly, Wide pubic symphysis, Vertebral segmentat... ORPHA:2052
Cocaine Intoxication
Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Mania, Acute kidney inj... ORPHA:90068
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Von Willebrand Disease, Type 3
Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Increased c... ORPHA:3240
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Quebec Platelet Disorder
Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Letterer-Siwe Disease
Hepatosplenomegaly, Irritability, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Acute kidney injury, Septic arthritis, Oliguria, Anuria, Leukocytosis, Hypoc... ORPHA:544482
Idiopathic Aplastic Anemia
Epistaxis, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Thrombocytopenia, Neutropenia, An... ORPHA:88
Phace Syndrome
Retinal vascular malformation, Cataract, Abnormal sternum morphology, Abnormal heart morphology, ... ORPHA:42775
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertensive retinopathy, Hypertension, Decreased circulating renin level OMIM:218030
Gaucher Disease, Type Ii
Splenomegaly, Hepatomegaly, Trismus, Thrombocytopenia, Anemia, Dysphagia OMIM:230900
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Alopecia, Long penis, Decreased circulating renin... ORPHA:90795
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll... OMIM:153670
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria, Hypertension OMIM:613677
Nijmegen Breakage Syndrome
Acute leukemia, Retrognathia, Abnormal hair morphology, Autoimmune hemolytic anemia, Low anterior... ORPHA:647
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Retinal vasculitis, Thrombocytopenia, Anemia... OMIM:615758
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Isolated Epispadias
Abnormal pelvic girdle bone morphology, Vesicoureteral reflux, Anteriorly displaced urethral meat... ORPHA:93928
Galactosialidosis
Visceromegaly, Cherry red spot of the macula, Hepatosplenomegaly, Conjunctival telangiectasia, Op... OMIM:256540
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Multicystic kidney dysplasia, Abnormal clavicle morphology... ORPHA:991
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Hypoplasia of the zygomatic bone, Exocrine pancreatic insufficiency, Absent gallbladder, Elevated... OMIM:618500
Liddle Syndrome 1
Hypokalemia, Hypertension, Renal insufficiency, Decreased circulating renin level OMIM:177200
Systemic Lupus Erythematosus
Alopecia, Depression, Anorexia, Leukopenia, Retinopathy, Hematuria, Proteinuria, Hypertension, Lu... ORPHA:536
Treacher Collins Syndrome 3
Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone OMIM:248390
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Delayed skeletal maturation, Decreased circulatin... ORPHA:90793
Atrial Standstill 2
Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Blue Rubber Bleb Nevus
Intestinal bleeding, Pathologic fracture, Abnormality of the liver, Iron deficiency anemia, Throm... OMIM:112200
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Anorexia ORPHA:90045
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Hyperaldosteronism, Familial, Type I
Hypertension, Decreased circulating renin level OMIM:103900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Optic atrophy, Megalocornea, Micrognathia, Malar flattening, Hypoplasia of the retina, ... OMIM:253280
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Abnormal pelvic girdle bone morphology, Hydroureter, Horseshoe kidney,... OMIM:600057
Liddle Syndrome 2
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618126
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:614492
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Epistaxis, Hypertension, Decreased circulating renin level ORPHA:231632
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abno... OMIM:601399
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Coat hanger sign of ribs, Thoracic hypoplasia, Ventricular septal defect ORPHA:254534
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... OMIM:300367
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Hematochezia, Lymphocytosis, Thrombocytopenia, Vascul... OMIM:617718
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Nephropathy, Epistaxis, Decreased proportion of CD8-positive T ce... OMIM:301000
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Retinal vasculitis, Anorexia, Elevated circulating C... ORPHA:91500
Alzahrani-Kuwahara Syndrome
Cataract, Coronary sinus enlargement, Tip-toe gait, Micrognathia, Astigmatism, Patent foramen ova... OMIM:619268
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Hematuria, Subarachnoid hemorr... ORPHA:853
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Opacification of the corneal stroma ORPHA:3453
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula ORPHA:309246
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Ramon Syndrome
Pigmentary retinopathy, Delayed eruption of teeth, Hypertrichosis, Axenfeld anomaly, Telangiectas... OMIM:266270
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma, Abnormal circulating lipid concentration, D... ORPHA:425
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, Dysphagia ORPHA:169105
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Ectopia lentis, Congenital contracture, Camptodactyly of finger, Arthr... ORPHA:115
Treacher Collins Syndrome 2
Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Fusion of middle ear ossicles,... OMIM:613717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, 11 pairs of ribs, Optic nerve dysplasia, Elevated circulating creat... OMIM:615287
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocytosis, Neutropenia, Thro... ORPHA:2330
Woodhouse-Sakati Syndrome
Osteopenia, Alopecia, Delayed skeletal maturation, Abnormal T-wave, Hyperlipidemia, Aplasia/Hypop... ORPHA:3464
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Congenital thrombocytopenia, Joint hemorrhage, Intermi... OMIM:313900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Decreased circulating renin level, Hypokalemia, Accelerated skeletal maturation, Hype... OMIM:202010
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal optic nerve morphology, Optic nerve compression, Keratoconjunctivitis sicca, Thrombocyto... ORPHA:79078
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Thrombocytopenia OMIM:273900
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:620484
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Abnormal T-wave, Hyperlipidemia, Micropenis, Sparse hair, Choreoathetosis OMIM:241080
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118

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 Fbn2

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 Fbn2.

No publications found that use IMPC mice or data for Fbn2.

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MGI Allele Allele Type Produced
Fbn2em1(IMPC)Rbrc Indel Mice

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