Gene Summary

Name:
growth differentiation factor 6
Synonyms:
BMP13

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
hydrocephaly Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal digit morphology Gdf6em1(IMPC)Ccpcz HET Early adult 2.70×10-05
abnormal thymus morphology Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Gdf6em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged thymus Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
increased lung tissue damping Gdf6em1(IMPC)Ccpcz HET Early adult 2.76×10-06
abnormal spleen morphology Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal brain morphology Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal optic disk morphology Gdf6em1(IMPC)Ccpcz HET Early adult 1.02×10-12
abnormal retina blood vessel morphology Gdf6em1(IMPC)Ccpcz HET   Early adult 1.55×10-07
enlarged spleen Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal retina morphology Gdf6em1(IMPC)Ccpcz HET Early adult 6.43×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Gdf6 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 Gdf6 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Gdf6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea... OMIM:185800
Multiple Synostoses Syndrome 4
Tarsal synostosis, Otosclerosis, Broad foot, Brachydactyly, Overlapping toe, Pes planus OMIM:617898
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Conductive he... OMIM:184460
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Cubitus valgus, Distal symphalangism... OMIM:186570
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the wrist, Bilateral conductive hearing impairment, Abnormality... ORPHA:2010
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Con... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Sheldon-Hall Syndrome
Bilateral single transverse palmar creases, Protruding ear, Tarsal synostosis, Abnormal hip bone ... ORPHA:1147
Steel Syndrome
Limited elbow extension, Pes cavus, Clinodactyly of the 5th finger, Dislocated radial head, Senso... OMIM:615155
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture... ORPHA:93320
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d... ORPHA:90650
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Ta... ORPHA:1836
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Proximal symphalangism, Humeroradia... OMIM:610017
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Irregular epiphyses, Abnormal femur morphology, Genu valgum, Bone pain, Joint ... ORPHA:1822
Talonavicular Coalition
Clinodactyly of the 5th finger, Short hallux, Proximal/middle symphalangism of 5th finger, Abnorm... OMIM:186750
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Nievergelt Syndrome
Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomeli... OMIM:163400
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Joint stiffness, Mesomelia, Abnormality of the hand, Abnormal tibia mo... ORPHA:2496
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Joint sti... ORPHA:1275
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple... ORPHA:363417
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Short metacarpal, Radial head subluxation, Metacarpophalangeal synostosis, Apl... OMIM:186400
Muenke Syndrome
Capitate-hamate fusion, Radial deviation of finger, Recurrent otitis media, Cone-shaped epiphyses... OMIM:602849
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Bilateral sensorineural hearing impairment... OMIM:605282
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Low-set, posteriorly... ORPHA:1307
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Hearing impairment, Brachydactyly ORPHA:35099
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Radial Hemimelia
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... ORPHA:93321
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Muenke Syndrome
Tarsal synostosis, Sensorineural hearing impairment, Short foot, Coronal craniosynostosis, Short ... ORPHA:53271
Acropectorovertebral Dysplasia
Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B... OMIM:102510
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Aplasia/H... ORPHA:337
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Elbow flexion contracture, Low-set ear... OMIM:178110
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Abnormality of the ankle ORPHA:1412
Humero-Radial Synostosis
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Limitation of joint... ORPHA:3265
Cardiospondylocarpofacial Syndrome
Short palm, Conductive hearing impairment, Synostosis of carpal bones, Brachydactyly ORPHA:3238
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum... ORPHA:957
Banki Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... ORPHA:1228
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Hearing impairment, Rod-cone dystrophy OMIM:617717
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Pseudoachondroplasia
Short long bone, Increased laxity of ankles, Flat acetabular roof, Hypoplastic pelvis, Joint stif... ORPHA:750
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Hao-Fountain Syndrome
Large fontanelles, Clinodactyly of the 5th finger, Delayed cranial suture closure, Low-set ears, ... OMIM:616863
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Tarsal synostosis, Posterior fusion of lumbosacral vertebrae ORPHA:2064
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Pa... OMIM:147891
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Sensorineural hearing impairment, Radioulnar s... ORPHA:71289
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he... OMIM:305620
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Low-set ears... OMIM:614701
Symphalangism, Distal
Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr... OMIM:185700
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Absent phalangeal crease, Antecubital pterygium, Fle... OMIM:618469
Waardenburg Syndrome Type 3
Tracheomalacia, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal b... ORPHA:896
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Genu valgum, Short metatarsal, Upper limb undergrowth, Short metacarpal,... OMIM:271650
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Waardenburg Syndrome, Type 3
Sensorineural hearing impairment, Scapular winging, Cutaneous finger syndactyly, Camptodactyly of... OMIM:148820
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones, Macrotia, Posteriorly rotated... OMIM:618392
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... ORPHA:3258
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Progressive sensorineural hearing impairment OMIM:165199
Multiple Epiphyseal Dysplasia Type 4
Abnormal earlobe morphology, Skewfoot, Abnormal pinna morphology, Stiff ankle, Short metacarpal, ... ORPHA:93307
Dermatoosteolysis, Kirghizian Type
Abnormal metaphysis morphology, Abnormality of the hand, Abnormality of the wrist, Tarsal synosto... ORPHA:1657
Arthrogryposis, Distal, Type 1A
Rocker bottom foot, Sensorineural hearing impairment, Adducted thumb, Overlapping toe, Elbow flex... OMIM:108120
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Microtia, Short m... OMIM:614851
Ivic Syndrome
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... OMIM:147750
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal an... ORPHA:1005
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Mixed hearing impairment, Tarsal synostosis, Clinodactyly of the 5th fin... OMIM:272460
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy OMIM:609055
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... ORPHA:2438
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Wormian bones, Femoral bowing, Hearing impairment, Hip dysplasia, Joint... OMIM:166200
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Large fontanelles, Abnormal metacarpal ... ORPHA:90652
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Otosclero... OMIM:166220
Congenital Vertical Talus
Rocker bottom foot, Abnormality of the foot musculature, Lower extremity joint dislocation, Foot ... ORPHA:178382
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os... ORPHA:50809
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Claw hand deformity, Hammertoe, Optic disc pallor OMIM:618511
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Metaphyseal cupping, Low-set ears, Bowing of the long bones, Hypoplas... ORPHA:85166
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol... OMIM:127300
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Abnormal earlobe morphology, Proximal tibial and fibular fusion, Abnormal pin... ORPHA:95699
Winchester Syndrome
Carpal osteolysis, Arthropathy, Broad metacarpals, Generalized osteoporosis, Osteolysis involving... OMIM:277950
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Increased CSF D-threitol concentration, Decreased CSF erythritol concentration, In... OMIM:608611
Larsen-Like Syndrome
Recurrent otitis media, Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fontanel... OMIM:608545
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S... OMIM:185900
49,Xyyyy Syndrome
Large carpal bones, Abnormality of the epiphyses of the elbow, Cubitus valgus, Low-set, posterior... ORPHA:99330
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Postaxial hand polydactyly, Syndactyly OMIM:615938
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Synostosis of carpal bones, Low-set, posteriorly rota... ORPHA:3191
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Narrow greater sciatic notch, Rhizomelia, Coxa vara, Cone/cone-rod dystrophy, Sple... OMIM:602271
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Joint stiffness, Heari... ORPHA:2307
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorineural hearing im... ORPHA:1435
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t... OMIM:309630
Craniosynostosis And Dental Anomalies
Chronic otitis media, Lambdoidal craniosynostosis, Absent malleus, 2-3 toe syndactyly, Prominent ... OMIM:614188
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Apert Syndrome
Chronic otitis media, Limited elbow movement, Broad thumb, Syndactyly, Craniosynostosis, Postaxia... OMIM:101200
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, De... OMIM:617974
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Recurrent otitis media, Low-set ears, Short foot, Fu... OMIM:157800
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Hearing impairment, Optic disc pallor OMIM:165300
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,... OMIM:618889
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join... OMIM:177170
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma ORPHA:2732
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... OMIM:176240
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Ruvalcaba Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vertebral epiphysis morphol... ORPHA:3121
Optic Atrophy 2
Optic atrophy OMIM:311050
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Sensorineural hearing impairment, Progressive hearing impairment, Hearing impairme... OMIM:614296
Alpha-Mannosidosis
Chronic otitis media, Avascular necrosis, Arthritis, Abnormal helix morphology, Synostosis of joi... ORPHA:61
Otosclerosis 11
Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im... OMIM:620576
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Abnormal to... OMIM:216100
Arthrogryposis, Distal, Type 2B1
Rocker bottom foot, Absent phalangeal crease, Ulnar deviation of the hand or of fingers of the ha... OMIM:601680
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Overlapping toe OMIM:618572
Roberts Syndrome
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... ORPHA:3103
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Larsen Syndrome
Broad distal phalanx of finger, Large joint dislocations, Finger syndactyly, Laryngotracheomalaci... ORPHA:503
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Abnormality of the wrist, Abnormal shoulder morphology, Synovial lining h... ORPHA:66627
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati... OMIM:620019
Auriculoosteodysplasia
Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the earlobes, Att... ORPHA:114
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal... ORPHA:1350
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Increased susceptibility to fractures, Osteopenia, Talipes equinovarus, Flared metaphysis, Dyspla... OMIM:615349
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Microtia, Short m... ORPHA:319675
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones... OMIM:105835
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Multiple joint dislocation, Slender metacarpals, Metaphyseal irregularity, Joint hypermobility, G... ORPHA:93360
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Metaphyseal irregularity, Joint hypermobility, Genu varum, Metaphyseal cupping, ... OMIM:250420
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia, Thrombocytopenia OMIM:166990
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Hypoplasia of the antihelix, Overlapping toe... ORPHA:221120
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Anemia, Ab... ORPHA:1802
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Sensorineural hearing impairment... OMIM:608154
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... ORPHA:710
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Postaxial hand polydactyly OMIM:615937
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Wide anterior fontanel, Delayed cranial suture closure, Coronal craniosynostos... ORPHA:85199
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Postaxial polydactyly, Attenuat... OMIM:614500
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Abruzzo-Erickson Syndrome
Hearing impairment, Macrotia, Protruding ear, Radioulnar synostosis OMIM:302905
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Ventriculomegaly, Flexion contracture of toe, Camptodactyly of finger OMIM:619323
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hepatomegaly, Hydrocephalus, Small hand OMIM:300884
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Joint stiffness, Cam... ORPHA:1323
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Stillbirth, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypopla... OMIM:200700
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Schinzel-Giedion Syndrome
Stiff elbow, Hypoplastic pubic bone, Wide anterior fontanel, Wormian bones, Tibial bowing, Abnorm... ORPHA:798
Desbuquois Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho... ORPHA:1425
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... OMIM:606895
Congenital Disorder Of Glycosylation, Type Iaa
Hearing impairment, Failure to thrive, Attenuation of retinal blood vessels, Intrauterine growth ... OMIM:617082
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Large fontanelles, Abnorma... ORPHA:2511
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Short distal phalanx of finger, Brachydactyly, Wormian bones, Joint hypermobility ORPHA:2787
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Hydrocephalus, Ascites, Abnormality of retinal p... ORPHA:858
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Sensorineural hearing impairment, Hypoplasia of the fovea OMIM:620086
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Char Syndrome
Low-set ears, Distal/middle symphalangism of 5th finger, Protruding ear, Clinodactyly of the 5th ... OMIM:169100
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... OMIM:271640
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Equinovarus deformity, Large fontanelles, Triphalangeal thumb, Abnormal pinna... ORPHA:3078
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia OMIM:609428
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Atresia of the external auditory canal, Me... OMIM:601356
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Talipes equinovarus, Peripheral axonal neuropathy, Upper limb amyotrophy, Decrease... OMIM:617087
Orofaciodigital Syndrome Type 1
Chronic otitis media, Tarsal synostosis, Reduced bone mineral density, Clinodactyly of the 5th fi... ORPHA:2750
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, Sho... OMIM:615630
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Pes planus, Genu valgum, Small epiphyses, Short long bone, Hearing impairment, Accelerated skelet... OMIM:618363
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Wrist swelling, Metacarpal osteolysis, Osteopenia, Pes cavus, Carpal osteolysis, ... OMIM:166300
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Lethal Osteosclerotic Bone Dysplasia
Large fontanelles, Delayed cranial suture closure, Low-set ears, Posteriorly rotated ears ORPHA:1832
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Retinal dysplasia OMIM:614830
Baller-Gerold Syndrome
Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Oligodactyly, Short humeru... OMIM:218600
Usher Syndrome, Type Iiib
Hearing impairment, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela... ORPHA:93346
Mullegama-Klein-Martinez Syndrome
Polydactyly, Absent stapes, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Mic... OMIM:301022
Merrf
Optic atrophy, Sensorineural hearing impairment, Short stature ORPHA:551
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Carpal bone hypoplasia, Abnormal foot morphology, Cone-shaped epiph... OMIM:184252
17Q24.2 Microdeletion Syndrome
Abnormality of the wrist, Cubitus valgus, Recurrent otitis media, Upper limb undergrowth, Otoscle... ORPHA:529962
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Desbuquois Dysplasia 1
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy... OMIM:251450
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Epiphyseal Dysplasia, Baumann Type
Marked delay in bone age, Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypop... OMIM:610797
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Large fontanelles, Talipes, Delayed cranial sut... ORPHA:2249
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Chronic otitis media, Clinodactyly of the 5th finger,... ORPHA:1507
Wolfram-Like Syndrome
Optic atrophy, Delayed puberty, Severe postnatal growth retardation, Peripheral axonal neuropathy... ORPHA:411590
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Hearing impairment, Growth delay, Severe short stature, Intrauterine growth retard... OMIM:619057
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Bilateral sensorineural hearing impairment, Papilledema, Progressive hearing impairment, Retinal ... OMIM:124950
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Elbow flexion contracture, Hydrocephalus OMIM:619470
Baller-Gerold Syndrome
Abnormal carpal morphology, Large fontanelles, Abnormal metacarpal morphology, Aplasia/Hypoplasia... ORPHA:1225
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Hydrocephalus, CSF lymphocytic pleiocytosis, Thrombocytopenia, Hepato... OMIM:610333
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Pelviscapular Dysplasia
Stenosis of the external auditory canal, Abnormal pinna morphology, Abnormality of the joint spac... ORPHA:93333
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Treacher Collins Syndrome 2
Fusion of middle ear ossicles, Conductive hearing impairment, Microtia, Anotia OMIM:613717
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Flexion contracture of toe ORPHA:320396
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Vertical Talus, Congenital
Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity OMIM:192950
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Hearing impairment, Abnormality of the autonomic nervous system ORPHA:1186
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Craniosynostosis, Small epiphyses, M... OMIM:616723
Joubert Syndrome 33
Cone/cone-rod dystrophy, Splenomegaly, Syndactyly OMIM:617767
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... ORPHA:321
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Small epiphyses, Single interp... OMIM:611717
Diencephalic Syndrome
Optic atrophy, Large hands, Hydrocephalus ORPHA:1672
Acrootoocular Syndrome
Short finger, Abnormal earlobe morphology, Sandal gap, Sensorineural hearing impairment, Low-set ... ORPHA:2980
Lamb-Shaffer Syndrome
Optic atrophy, Long fingers, Long hallux, Overlapping toe, Clinodactyly OMIM:616803
Otosclerosis 10
Otosclerosis OMIM:615589
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Distal Deletion 17Q
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal hip bone morpholo... ORPHA:1597
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Hearing impairment, Failure to thrive, Neonatal death, Intrauterine growth retarda... OMIM:618237
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Low-set, posteriorly rotated ears, Multiple suture craniosynostosis, Small anterior fontanelle, M... ORPHA:3369
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Microtia, Abnormality of the calcaneus, Bi... ORPHA:40366
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Mixed hearing impairment, Hypophosphatemic rickets, Fused ce... ORPHA:51608
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse... OMIM:226980
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Abnormality of the calcaneus, Low-set ears, Metaphyseal cuppi... ORPHA:163966
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anterior fontanel, Delayed cranial s... OMIM:113000
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Striatonigral Degeneration, Infantile
Optic atrophy, Failure to thrive OMIM:271930
Larsen Syndrome
Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Talipes equinovarus, Tr... OMIM:150250
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Low-set ears, Central Y-shaped metacarpal, Prominent metopic ri... OMIM:617926
Sandhoff Disease
Splenomegaly, Hepatomegaly, Cherry red spot of the macula ORPHA:796
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wormian bones, Camptodactyly of finger, Low-set ears, Brachydactyly ORPHA:2863
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Pes planus, Dislocate... OMIM:618395
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Small epiphyses, Short long bone, Knee dislocation, Joint hypermobility, Adducted thumb, Advanced... OMIM:620269
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac... OMIM:619795
Three M Syndrome 3
Protruding ear, Clinodactyly of the 5th finger, Slender long bone, Prominent calcaneus, Hip dyspl... OMIM:614205
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B... OMIM:615222
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal hip bone morphology, Wormian bones, Abnormality of the ank... ORPHA:970
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, ... ORPHA:380
Cleidocranial Dysplasia 2
Osteopenia, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification o... OMIM:620099
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Hydrocephalus ORPHA:26
Congenital Hydrocephalus
Optic atrophy, Hydrocephalus, Colpocephaly, Ventriculomegaly, Macular hypoplasia ORPHA:2185
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Hyperexten... OMIM:610967
Sclerosteosis
Optic atrophy, Diaphyseal undertubulation, Finger syndactyly, Facial palsy, 2-3 finger syndactyly... ORPHA:3152
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hip dysplasia, Cryptorchidism, Talipes equinovarus, Hip dislocation ORPHA:250994
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Retinal degeneration, Rod-cone dystr... OMIM:204200
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Sensorineural hearing impairment, Hearing impairment, Rod-co... OMIM:311070
Chromosome 16Q22 Deletion Syndrome
Single transverse palmar crease, Sensorineural hearing impairment, Wide anterior fontanel, Low-se... OMIM:614541
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy, Hearing impairment OMIM:309555
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Hypermobility of interphalangeal joints, Bowing of the l... OMIM:613849
Chondrodysplasia, Blomstrand Type
Stillbirth, Flared metaphysis, Squared iliac bones, Micromelia, Accelerated skeletal maturation, ... OMIM:215045
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Retinal dysplasia ORPHA:324416
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Genu valgum, Anemia, Pancytopenia, Hydrocephalus, Diaphyseal sclerosis, Cranial ne... OMIM:259710
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Albers-Schönberg Osteopetrosis
Optic atrophy, Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morpholog... ORPHA:53
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy... OMIM:184260
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles, Widely patent fontanelles and sutures, Microtia OMIM:168550
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Hammertoe, Decreased number of periph... OMIM:609260
Meckel Syndrome, Type 3
Polydactyly, Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Pos... OMIM:607361
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Failure to thrive, Sensorineural hearing impairment, Intrauterine growth retardation OMIM:300475
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Angulated humerus, Wormian bones, Short long bone, Bowing of the long bon... OMIM:616229
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Hydrocephalus, Postaxial hand polydactyly, Y-shaped met... OMIM:175700
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomeg... OMIM:607616
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Hydrocephalus, Broad thumb, Abnormality of retinal pigmentation, Spl... ORPHA:585
Dyggve-Melchior-Clausen Disease
Limited elbow extension, Genu valgum, Rhizomelia, Abnormal hip bone morphology, Glenoid fossa hyp... ORPHA:239
Acrocraniofacial Dysostosis
Genu valgum, Short 1st metacarpal, Abnormal hip bone morphology, Triphalangeal thumb, Low-set, po... ORPHA:949
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Hydrocephalus ORPHA:352682
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Thrombocytopenia, Splenomegaly OMIM:615085
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Hypoplastic iliac wing, Short long bone, Postaxial hand polydac... OMIM:225500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Clinodactyly OMIM:300928
Multiple Sulfatase Deficiency
Hepatomegaly, Hydrocephalus, Increased CSF protein concentration, Broad thumb, Broad hallux, Sple... OMIM:272200
Fried Syndrome
Hydrocephalus, Abnormal optic nerve morphology ORPHA:85335
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Craniotelencephalic Dysplasia
Optic atrophy, Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia ORPHA:1528
Menkes Disease
Abnormal metaphysis morphology, Tarsal synostosis, Chondrocalcinosis, Wormian bones, Bowing of th... ORPHA:565
Phaver Syndrome
Triphalangeal thumb, Pterygium, Aplasia/Hypoplasia of the earlobes, Low-set ears, Joint stiffness... ORPHA:2876
Mckusick-Kaufman Syndrome
Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,... ORPHA:2473
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Cryptorchidism, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Chorioretinitis, Retinal hemorrhage, Thrombocytope... ORPHA:294
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Drusen, Optic disc pallor OMIM:618632
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormality of the wrist, Abnormal shoulder morphology, Abnormal femoral neck/head morphology, Hi... ORPHA:85438
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Large fontanelles, Wide distal femoral metaphysis, Delayed epiphyseal ossification, Metaphyseal c... OMIM:613320
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Neonatal Severe Primary Hyperparathyroidism
Abnormal metaphysis morphology, Hepatomegaly, Splenomegaly ORPHA:417
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration, Vacuolated lymphocytes OMIM:256730
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Craniodiaphyseal Dysplasia
Optic atrophy, Conductive hearing impairment, Short stature ORPHA:1513
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Osteogenesis Imperfecta, Type Xiii
Protruding ear, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me... OMIM:614856
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Adducted thumb, Talipes equinovarus OMIM:303350
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal femur morphology, Abnormal bone ossification, Sclerotic fo... ORPHA:166119
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Brachydactyly, Wormian bon... OMIM:617808
Char Syndrome
Clinodactyly of the 5th finger, Mesoaxial foot polydactyly, Symphalangism of the 5th finger, Shor... ORPHA:46627
Infantile Sialic Acid Storage Disease
Hepatomegaly, Hydrocephalus, Vacuolated lymphocytes, Ascites, Splenomegaly, Metaphyseal irregular... OMIM:269920
Cardiac-Valvular Ehlers-Danlos Syndrome
Hypermobility of distal interphalangeal joints, Genu valgum, Joint dislocation, Sandal gap, Genu ... ORPHA:230851
Silver-Russell Syndrome
Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sandal gap, Abnormal appendicu... ORPHA:813
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Wormian bones... OMIM:269300
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Hepatic fibrosis, Hepatosplenomegaly, Talipes equinovarus ORPHA:466794
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Proximal placement of thumb, Talipes equinovarus, H... OMIM:613330
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Limited knee extens... OMIM:277590
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Femoral bowing, Low-set ears, Camptodactyly,... OMIM:201750
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Abnormal leukocyte morphology, Retrobulbar optic neuritis ORPHA:3151
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Reticulocytosis, Thrombocytopenia, Splenomegal... OMIM:611490
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short finger, Small epiphyses, Wormian bones, Low-set ears, Flared iliac wing, Coxa vara, Metaphy... OMIM:300232
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Microtia, Tibial bowing, Delayed skeletal maturation, Short distal phalan... OMIM:210720
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy, Ventriculomegaly OMIM:620314
Proteus-Like Syndrome
Retinal detachment, Hydrocephalus, Communicating hydrocephalus, Splenomegaly, Thymus hyperplasia,... ORPHA:2969
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wrist swelling, Metacarpal osteolysis, Abnormality of the wrist, Carpal osteolysis, Slender long ... ORPHA:2774
Hajdu-Cheney Syndrome
Osteopenia, Genu valgum, Fibular bowing, Pathologic fracture, Osteolytic defects of the phalanges... OMIM:102500
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Hydrocephalus, Camptodactyly of finger, Ventriculomegaly ORPHA:272
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Genu valgum, Hydrocephalus OMIM:248000
ERI1-related disease
Osteopenia, Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Olig... OMIM:608739
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Ellis Van Creveld Syndrome
Genu valgum, Cubitus valgus, Synostosis of carpal bones, Abnormal pelvic girdle bone morphology, ... ORPHA:289
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Hyperextensibi... OMIM:228000
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Roifman Syndrome
Hepatomegaly, Clinodactyly of the 5th finger, Lymphadenopathy, Retinal dystrophy, Single transver... OMIM:616651
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Femur fracture, Hepatomegaly, Anemia, Pancytopenia, Hydrocephalus, Flared metaphys... OMIM:259700
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Hypoplastic acetabulae, Flared iliac wing, Splenomegaly, Cherry red spot of the mac... OMIM:230650
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Wormian bones, Limitation of joint mobility, Toe clinodactyly, Pathologic... ORPHA:166277
Antley-Bixler Syndrome
Talipes, Low-set, posteriorly rotated ears, Delayed cranial suture closure, Femoral bowing, Joint... ORPHA:83
Fibrochondrogenesis 1
Narrow greater sciatic notch, Abnormal pinna morphology, Short long bone, Hypoplastic ischia, Dum... OMIM:228520
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Abnormality of the hand, Paresis of extensor muscles of the big toe, Hydrocephalus... ORPHA:99947
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Protruding ear, Delayed cranial suture closure, Wormian bones, Low-set ears, Joint hy... OMIM:616603
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Abnormal foot morphology, Hammertoe, Sandal gap, Joint dislocation, Hallux valgus, Sh... ORPHA:536532
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Recurrent otitis media, Long foot OMIM:616831
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Broad hallux, Syndactyly... OMIM:212780
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Aicardi-Goutieres Syndrome 6
Hepatomegaly, CSF pleocytosis, Increased CSF interferon alpha, Thrombocytopenia, Splenomegaly, He... OMIM:615010
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Optic atrophy, Hydrocephalus, Bilateral talipes equinovarus OMIM:618174
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice OMIM:129850
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Saethre-Chotzen Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ... ORPHA:794
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy, Decreased body weight, Intrauterine growth retardation, Short stature, Failure to ... OMIM:618346
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal dysplas... OMIM:251270
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Intrauterine growth retardation, Optic disc pallor OMIM:618776
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal... OMIM:616959
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Cone-Rod Dystrophy, X-Linked, 3
Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r... OMIM:300476
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Short long bone, Split hand, Limitation of joint mobility, Irregular carp... OMIM:252600
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calcaneus, Low-set ear... OMIM:300863
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Failure to thrive, Hearing impairment OMIM:609056
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Optic atrophy, Decreased body weight, Delayed puberty, Short stature ORPHA:477814
Cleidocranial Dysplasia
Chronic otitis media, Decreased skull ossification, Abnormal epiphysis morphology, Hearing abnorm... ORPHA:1452
Grant Syndrome
Large fontanelles, Joint dislocation, Wormian bones, Decreased skull ossification, Bowing of the ... ORPHA:2097
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Krabbe Disease