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
enlarged thymus Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal thymus morphology Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
hydrocephaly Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
increased lung tissue damping Gdf6em1(IMPC)Ccpcz HET Early adult 2.22×10-06
abnormal brain morphology Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal digit morphology Gdf6em1(IMPC)Ccpcz HET   Early adult 6.85×10-06
abnormal retina blood vessel morphology Gdf6em1(IMPC)Ccpcz HET   Early adult 3.12×10-06
abnormal optic disk morphology Gdf6em1(IMPC)Ccpcz HET Early adult 1.12×10-11
enlarged spleen Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spleen morphology Gdf6em1(IMPC)Ccpcz HET Early adult 0.00

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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 Hind Leg and Hip

32 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 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
Carpal synostosis, Stapes ankylosis, Conductive hearing impairment, Aplasia/Hypoplasia of the mid... OMIM:185800
Multiple Synostoses Syndrome 4
Overlapping toe, Otosclerosis, Brachydactyly, Pes planus, Tarsal synostosis, Broad foot OMIM:617898
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Stapes ankylosis, Conductive hearing impairment, Congenital stape... OMIM:184460
Tarsal-Carpal Coalition Syndrome
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... OMIM:186570
Proximal Symphalangism
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly ... ORPHA:3250
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankles, Bilateral conductive hearing impairment, Abnormalit... ORPHA:2010
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Abnormality of the stapes OMIM:124490
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment, Symphalangism affecting the phalanges of the toes, Symphalangism o... ORPHA:3246
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Sensorineural hearing impairment, Aplasia/Hypo... OMIM:611377
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Bilateral conductive hearing impairment, Symphalangis... 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
Joint stiffness, Protruding ear, Abnormal hip bone morphology, Adducted thumb, Overlapping finger... ORPHA:1147
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the an... ORPHA:968
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the humerus, Abnormality ... ORPHA:1836
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Dysplasia Epiphysealis Hemimelica
Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp... ORPHA:1822
Talonavicular Coalition
Clinodactyly of the 5th finger, Abnormality of the ankles, Short hallux, Coalescence of tarsal bo... OMIM:186750
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... OMIM:612961
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Micromelia, Abnormality of the ankle... ORPHA:2496
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short palm, Coxa vara, Short metacarpal, Osteoarthritis, Micromelia, Synostosis of carpal bones, ... ORPHA:93351
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad... OMIM:186400
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... ORPHA:1275
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Broad... OMIM:311300
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Severe sensorineural hearing im... ORPHA:363417
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Microtia, Limb undergrowth, Abnormal metacarpal morphology, Atre... ORPHA:3429
Nievergelt Syndrome
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... OMIM:163400
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... OMIM:605282
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... OMIM:301940
Otofacioosseous-Gonadal Syndrome
Sensorineural hearing impairment, Carpal synostosis, Protruding ear, Talipes equinovarus, Short h... OMIM:601976
Muenke Syndrome
Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Thimble-sha... OMIM:602849
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Carpal synostosis, Multiple pterygia, Craniosynostosis, Low-set, posteriorly rot... OMIM:178110
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... ORPHA:2098
Distal Limb Deficiencies-Micrognathia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal morphology of ulna, Spl... ORPHA:1307
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the... ORPHA:3248
Humeroradial Synostosis With Craniofacial Anomalies
Carpal synostosis, Microtia, Small earlobe, Tarsal synostosis, Humeroradial synostosis OMIM:236410
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... ORPHA:2741
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Muenke Syndrome
Sensorineural hearing impairment, Carpal synostosis, Coronal craniosynostosis, Cone-shaped epiphy... ORPHA:53271
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Broad thumb, B... OMIM:102510
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankles, Tarsal synostosis ORPHA:1412
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Short palm, Brachydactyly, Synostosis of carpal bones ORPHA:3238
Humero-Radial Synostosis
Elbow ankylosis, Abnormality of the wrist, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Li... ORPHA:3265
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... ORPHA:957
Banki Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp... ORPHA:1228
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Hearing impairment, Brachydactyly ORPHA:35099
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Jackson-Weiss Syndrome
2-3 toe syndactyly, Craniosynostosis, Broad hallux, Hallux varus, Broad metatarsal, Short metatar... OMIM:123150
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Wide capital femoral epiphyses, Pes planu... OMIM:147891
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis ORPHA:2064
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, Postaxial hand polydactyly, Un... OMIM:263540
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Posteriorly rotated ears, Delayed ossification of carpal bones, Macrotia OMIM:618392
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Stapes ankylosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, S... OMIM:614701
Hao-Fountain Syndrome
Clinodactyly of the 5th finger, Delayed cranial suture closure, Hallux valgus, Large fontanelles,... OMIM:616863
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Osteoarthritis, Broad femoral neck, Upper limb undergrowth, Bro... OMIM:271650
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... OMIM:185700
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Long foot, Partial fusion of tarsals,... OMIM:305620
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Waardenburg Syndrome, Type 3
Sensorineural hearing impairment, Carpal synostosis, Joint contracture of the hand, Camptodactyly... OMIM:148820
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysp... ORPHA:71289
Waardenburg Syndrome Type 3
Joint stiffness, Abnormality of finger, Tracheomalacia, Camptodactyly of finger, Synostosis of ca... ORPHA:896
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Fused cervical vertebrae, Tar... OMIM:618469
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Cenani-Lenz Syndrome
Protruding ear, Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bon... ORPHA:3258
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Progressive sensorineural hearing impairment OMIM:165199
Dermatoosteolysis, Kirghizian Type
Abnormality of the hand, Osteoarthritis, Brachydactyly, Abnormality of the wrist, Osteolysis, Abn... ORPHA:1657
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Multiple Epiphyseal Dysplasia Type 4
Abnormal pinna morphology, Accelerated skeletal maturation, Short metacarpal, Upper limb undergro... ORPHA:93307
Acromesomelic Dysplasia 3
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Short toe, Talipes equinova... OMIM:609441
Seckel Syndrome 7
Microtia, Clinodactyly, Madelung deformity, Delayed skeletal maturation, Hip dysplasia, Abnormal ... OMIM:614851
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal antihelix morphology, Joint stiffness, Clinodactyly of the 5th finger, Abnormal helix mo... ORPHA:1005
Arthrogryposis, Distal, Type 1A
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... OMIM:108120
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Otosclerosis, Femoral bowing present at birth, straightening with time, Redu... OMIM:166220
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Short hallux, ... ORPHA:337
Otopalatodigital Syndrome Type 2
Carpal synostosis, Abnormal pinna morphology, Low-set ears, Large fontanelles, Increased bone min... ORPHA:90652
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microtia, Short 1st metacarpal, S... ORPHA:2438
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... ORPHA:50809
Spondylocarpotarsal Synostosis Syndrome
Sensorineural hearing impairment, Epiphyseal dysplasia, Carpal synostosis, Clinodactyly of the 5t... OMIM:272460
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Low-set ears, Metaphyseal cupping, Micromelia, Hypoplasia of the ... ORPHA:85166
Microphthalmia With Limb Anomalies
Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislo... ORPHA:1106
Congenital Vertical Talus
Equinus calcaneus, Foot pain, Ankle pain, Abnormality of the foot musculature, Distal arthrogrypo... ORPHA:178382
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Brachydactyly-Distal Symphalangism Syndrome
Distal symphalangism of hands, Short 1st metacarpal, Pes cavus, Chess-pawn distal phalanges, Bila... OMIM:113450
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... OMIM:127300
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Winchester Syndrome
Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy, Generalized... OMIM:277950
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Hearing impairment, Peripheral axonal neuropathy OMIM:617087
49,Xyyyy Syndrome
Generalized joint laxity, Finger clinodactyly, Short 5th finger, Low-set, posteriorly rotated ear... ORPHA:99330
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Synostosis of carpal bones, Low-set, posteriorly rota... ORPHA:3191
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sensorineural hearing impairment, Slender long bones with narrow diaphyses, Osteopenia, Metaphyse... OMIM:608154
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis OMIM:309630
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy, Growth delay, Short stature OMIM:616632
Osteogenesis Imperfecta, Type I
Recurrent fractures, Otosclerosis, Osteopenia, Femoral bowing, Wormian bones, Increased susceptib... OMIM:166200
Spondylometaphyseal Dysplasia, Axial
Coxa vara, Retinal degeneration, Narrow greater sciatic notch, Splenomegaly, Rod-cone dystrophy, ... OMIM:602271
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... OMIM:185900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Tenosynovial Giant Cell Tumor
Joint swelling, Joint stiffness, Conductive hearing impairment, Chondrocalcinosis, Abnormality of... ORPHA:66627
Ribose 5-Phosphate Isomerase Deficiency
Increased level of xylitol in CSF, Increased level of D-threitol in CSF, Decreased level of eryth... OMIM:608611
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... OMIM:615349
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy OMIM:609055
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Abnormal pinna morphology, Elbow ankylosis, Craniosynostosis, Femo... ORPHA:95699
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615938
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Lim... ORPHA:3269
Larsen-Like Syndrome
Conductive hearing impairment, Wide anterior fontanel, Clinodactyly of the 5th finger, Joint disl... OMIM:608545
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Metaphyseal dysplasia, Cranial nerve compression, Macular atrophy OMIM:250450
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... ORPHA:1435
Ivic Syndrome
Joint stiffness, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones,... ORPHA:2307
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Conductive hearing impairment, 2-3 toe syndactyly, Coronal craniosynostosis, Pr... OMIM:614188
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Tarsal Coalition
Tarsal synostosis OMIM:186850
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... OMIM:617719
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... OMIM:609655
Liberfarb Syndrome
Sensorineural hearing impairment, Retinal degeneration, Short stature, Retinal pigment epithelial... OMIM:618889
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Congenital sensorineural hearing impairment, Recurrent otitis media, Low-set e... OMIM:157800
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment OMIM:165300
Ruvalcaba Syndrome
Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Micromelia, Synostosis of carp... ORPHA:3121
Roberts Syndrome
Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar synostosis,... ORPHA:3103
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Juberg-Hayward Syndrome
Abnormality of toe, Limited elbow extension, Abnormality of the radial head, Aplasia/Hypoplasia o... OMIM:216100
Apert Syndrome
Craniosynostosis, Cutaneous syndactyly, Rhizomelic arm shortening, Sagittal craniosynostosis, Bro... OMIM:101200
Arthrogryposis, Distal, Type 2B1
Abnormality of the ear, Talipes equinovarus, Camptodactyly of finger, Ulnar deviation of the wris... OMIM:601680
Auriculoosteodysplasia
Attached earlobe, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of... ORPHA:114
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydacty... ORPHA:1350
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Larsen Syndrome
Short distal phalanx of finger, Large joint dislocations, Laryngotracheomalacia, Conductive heari... ORPHA:503
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia, Rhizomelia OMIM:166990
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Advanced ossification of carpal bones, Accelerated skeletal maturation, Knee dis... OMIM:618363
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Splenomegaly, Abnormality of tibia morphology, Bowing of the lon... ORPHA:1802
Arthrogryposis, Distal, Type 11
Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... OMIM:620019
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Optic Atrophy 2
Optic atrophy OMIM:311050
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... OMIM:105835
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Delayed oss... OMIM:609616
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615937
Wolfram-Like Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo... OMIM:614296
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Overlapping toe OMIM:618572
Microcephalic Primordial Dwarfism, Dauber Type
Clinodactyly of the 5th finger, Abnormal carpal morphology, Microtia, Limb undergrowth, Madelung ... ORPHA:319675
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Alpha-Mannosidosis
Avascular necrosis, Abnormal helix morphology, Chronic otitis media, Arthritis, Synostosis of joi... ORPHA:61
Pseudoaminopterin Syndrome
Slender finger, Clinodactyly of the 4th finger, Single transverse palmar crease, Sagittal cranios... ORPHA:221120
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma ORPHA:2732
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Optic Atrophy 5
Optic atrophy OMIM:610708
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature OMIM:618160
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Genu valgum, Hip subluxation, Premature osteoarthritis, Rad... ORPHA:93360
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Symphalangism affecting the phalanges... ORPHA:710
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Wide anterior fontanel, Large posterior fontanelle, Coronal craniosynostosis, Delayed cranial sut... ORPHA:85199
Abruzzo-Erickson Syndrome
Hearing impairment, Protruding ear, Macrotia, Radioulnar synostosis OMIM:302905
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Large earlobe, Clinodactyly of the 5th finger, Unusual dermatoglyphics, Persistent open anterior ... ORPHA:262767
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the ear, Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostos... ORPHA:457395
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Baller-Gerold Syndrome
Carpal synostosis, Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Hypoplasia of ... OMIM:218600
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Joint stiffness, Abnormal hip bone morphology, Camptodactyly of finger, Synostosis of carpal bone... ORPHA:1323
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Car... OMIM:250420
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Overlapping toe, Tibial bowing, Sclerosis of skull base, Large ea... ORPHA:798
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory insufficiency, Ventric... OMIM:610333
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of the ear, Abnormality of finger, Large iliac wing, Delayed cranial suture closure, ... ORPHA:2511
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... OMIM:606895
Thai Symphalangism Syndrome
Short toe, Proximal symphalangism of hands, Distal symphalangism of hands, Brachydactyly, Postaxi... OMIM:608028
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly, Osteoporosis, Wormian bones, Joint hyperflexibility ORPHA:2787
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Desbuquois Syndrome
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... ORPHA:1425
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Optic atrophy, Ventriculomegaly, Retinal dysplasia, Dandy-Walker malformation OMIM:613154
Achondroplasia
Bowing of the legs, Hydrocephalus, Trident hand, Flared metaphysis, Brachydactyly, Short femoral ... OMIM:100800
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Genu valgum, Hip subluxation, Radial head sublu... OMIM:271640
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... OMIM:616394
Severe X-Linked Intellectual Disability, Gustavson Type
Abnormal pinna morphology, Small fontanelle, Congenital hip dislocation, Macrotia, Triphalangeal ... ORPHA:3078
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Carpal bone aplasia, Syndactyly OMIM:609428
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Shortening of all metacarpals, Wormian bon... OMIM:601356
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Camptodactyly of finger, Flexion contracture of toe, Ventriculomegaly OMIM:619323
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Single t... OMIM:206920
Lethal Osteosclerotic Bone Dysplasia
Delayed cranial suture closure, Low-set ears, Posteriorly rotated ears, Large fontanelles ORPHA:1832
Developmental And Epileptic Encephalopathy 36
Small hand, Optic atrophy, Hydrocephalus, Hepatomegaly OMIM:300884
Periventricular Nodular Heterotopia 7
Optic atrophy, Cryptorchidism, 2-3 toe syndactyly OMIM:617201
Merrf
Optic atrophy, Sensorineural hearing impairment, Short stature ORPHA:551
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Wrist pain, Metatarsal osteolysis, Osteopenia, Pes cavus, Ankle pain... OMIM:166300
Char Syndrome
Distal/middle symphalangism of 5th finger, Low-set ears, Clinodactyly of the 5th finger, Protrudi... OMIM:169100
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Phalangeal ... OMIM:251450
Congenital Toxoplasmosis
Hydrocephalus, Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Ascites, Vent... ORPHA:858
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... OMIM:614500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pe... OMIM:184252
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Low-set, posteriorl... ORPHA:2725
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Failure to thrive OMIM:616881
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Ulna Hypoplasia-Intellectual Disability Syndrome
Joint stiffness, Hypoplasia of the radius, Delayed cranial suture closure, Broad hallux phalanx, ... ORPHA:2249
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Accelerated skeletal maturation, Flared metaphysis, Microm... OMIM:215045
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Retinal degenera... OMIM:615630
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Progressive hearing impairment, Retinal arteriolar constriction, Bilateral sensorine... OMIM:124950
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Flare... ORPHA:93346
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Small for gestational age, Optic atrophy, Growth delay, Hearing impairment,... OMIM:619057
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Orofaciodigital Syndrome Type 1
Short toe, Clinodactyly of the 5th finger, Finger syndactyly, Reduced bone mineral density, Cone-... ORPHA:2750
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Protruding ear, Increased bone mineral density, Arachnodactyly, Osteoporo... OMIM:614856
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Hepatomegaly, Splenomegaly ORPHA:139406
17Q24.2 Microdeletion Syndrome
Otosclerosis, Microtia, Abnormality of the ankles, Upper limb undergrowth, Abnormality of the wri... ORPHA:529962
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Hearing impairment, Abnormality of the autonomic nervous system ORPHA:1186
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Carpal synostosis, Conductive hearing impairment, Joint contracture of the hand, Craniosynostosis... OMIM:201750
Dwarfism With Stiff Joints And Ocular Abnormalities
Joint stiffness, Delayed ossification of carpal bones, Short phalanx of finger, Short lower limbs... OMIM:127200
Baller-Gerold Syndrome
Conductive hearing impairment, Hand oligodactyly, Aplasia/Hypoplasia of the patella, Aplasia/Hypo... ORPHA:1225
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Distal Monosomy 17Q
Abnormal hip bone morphology, Small hand, Microtia, Prominent metopic ridge, Micromelia, Bilatera... ORPHA:1597
Pelviscapular Dysplasia
Mesomelic leg shortening, Abnormal pinna morphology, Low-set ears, Short femur, Stenosis of the e... ORPHA:93333
Papilloma Of Choroid Plexus
Papilledema, Hydrocephalus, Choroid plexus papilloma OMIM:260500
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Facial palsy, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Premature posterior fontanelle closure, Metopic suture patent to nasal root, Low-set, posteriorly... ORPHA:3369
Vertical Talus, Congenital
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis OMIM:192950
Multiple Osteochondromas
Abnormality of femur morphology, Limitation of knee mobility, Abnormality of fibula morphology, A... ORPHA:321
Acrootoocular Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Short toe, Decreased palmar crea... ORPHA:2980
Cutis Laxa, Autosomal Dominant 3
Protruding ear, Talipes equinovarus, Adducted thumb, Osteopenia, Delayed cranial suture closure, ... OMIM:616603
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal hip b... ORPHA:1507
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Chorioretinal coloboma OMIM:300864
Otosclerosis 10
Otosclerosis OMIM:615589
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Coxa vara, Flared iliac wing, Flexion contracture, Metaphyseal widening, Brachydactyly, Flattened... OMIM:300232
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Short toe, Rhizo-meso-acromelic limb shortening, Flexion contrac... OMIM:611717
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Delayed cranial suture closure, Syndactyly... OMIM:113000
Meckel Syndrome, Type 3
Hydrocephalus, Hepatomegaly, Malformation of the hepatic ductal plate, Polydactyly, Postaxial han... OMIM:607361
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad... ORPHA:380
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dys... OMIM:226980
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypop... ORPHA:163966
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Lymphadenopathy OMIM:608971
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesome... OMIM:171480
Striatonigral Degeneration, Infantile
Optic atrophy, Failure to thrive OMIM:271930
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Generalized Arterial Calcification Of Infancy
Sensorineural hearing impairment, Stapes ankylosis, Hypophosphatemic rickets, Conductive hearing ... ORPHA:51608
Short Stature-Wormian Bones-Dextrocardia Syndrome
Low-set ears, Camptodactyly of finger, Brachydactyly, Wormian bones ORPHA:2863
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Decreased DLCO, ... OMIM:607616
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Facial palsy, Optic atrophy, Opt... OMIM:611490
Acitretin/Etretinate Embryopathy
Microtia, Cupped ear, Abnormality of the calcaneus, Aplasia/hypoplasia involving bones of the upp... ORPHA:40366
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Ulnar deviation of the hand ... OMIM:600383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Retinal dysplasia, Ventriculomegaly OMIM:614830
Orofaciodigital Syndrome Xvii
Partial duplication of thumb phalanx, Prominent metopic ridge, Short middle phalanx of the 2nd fi... OMIM:617926
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Retinopathy, Optic atrophy, Optic disc pallor, Macular atrophy, Intrauterine growt... OMIM:616171
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... ORPHA:970
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Wormian bones, Slender long bone, Pseudoarthro... OMIM:619795
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Short femoral neck, Tapered f... OMIM:618395
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Sensorineural hearing impairment, Rod-cone dystrophy, Segmental peripheral demyelination/remyelin... OMIM:311070
Diencephalic Syndrome
Optic atrophy, Large hands, Hydrocephalus ORPHA:1672
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hydrocephalus, Elbow flexion contracture OMIM:619470
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Flexion contracture of toe ORPHA:320396
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Neonatal death, Optic atrophy, Hearing impairment, Intrauterine growth retarda... OMIM:618237
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Conductive hearing impairment, Upper limb phocomelia, Microtia, Radial club hand, S... ORPHA:2878
Farber Lipogranulomatosis
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Hyperextensibility of the finger joint... OMIM:228000
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles, Widely patent fontanelles and sutures, Microtia OMIM:168550
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Hearing impairment OMIM:309555
1Q21.1 Microduplication Syndrome
Hydrocephalus, Talipes equinovarus, Hip dislocation, Cryptorchidism, Hip dysplasia ORPHA:250994
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Coxa vara, Hypoplastic acetabulae, Abnormal hip bone... ORPHA:239
Larsen Syndrome
Conductive hearing impairment, Short metatarsal, Accessory carpal bones, Talipes equinovarus, Kne... OMIM:150250
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Short distal phalanx of finger, Hydrocephalus, Facial palsy, Optic... ORPHA:53
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Dyspnea, Hemolytic anemia, Splenomegaly ORPHA:228312
Three M Syndrome 3
Protruding ear, Clinodactyly of the 5th finger, Slender long bone, Prominent calcaneus, Joint hyp... OMIM:614205
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Sensorineural hearing impairment, Abnormal pinna morphology, Cond... ORPHA:949
Hajdu-Cheney Syndrome
Large earlobe, Dislocated radial head, Conductive hearing impairment, Crowded carpal bones, Osteo... OMIM:102500
Lamb-Shaffer Syndrome
Overlapping toe, Long hallux, Long fingers, Optic atrophy, Clinodactyly OMIM:616803
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Chromosome 16Q22 Deletion Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Prominent metopic ridge, Wormian bones,... OMIM:614541
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Joint contracture of the hand, Camptodactyly of toe, Broad hallux phalanx, 1-3 toe... OMIM:175700
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Optic atrophy, Fac... ORPHA:3152
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... OMIM:610967
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Hearing impairment, Rod-cone dystrophy OMIM:617717
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Splenomegaly ORPHA:796
Neonatal Severe Primary Hyperparathyroidism
Abnormal metaphysis morphology, Hepatomegaly, Splenomegaly ORPHA:417
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Genu recurvatum, Delayed... OMIM:184260
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Cutis Laxa, Autosomal Recessive, Type Iiia
Talipes equinovarus, Adducted thumb, Congenital hip dislocation, Wide cranial sutures, Wormian bo... OMIM:219150
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Enthesitis-Related Juvenile Idiopathic Arthritis
Oligoarthritis, Abnormal femoral neck/head morphology, Abnormal metatarsal morphology, Limited mo... ORPHA:85438
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Thin metacarpal cortices, C1-C2 subluxation, Delayed closure of the anterior fontanel... OMIM:259600
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Ellis-Van Creveld Syndrome
Acetabular spurs, Talipes equinovarus, Cone-shaped epiphyses of phalanges 2 to 5, Postaxial hand ... OMIM:225500
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Masa Syndrome
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb OMIM:303350
Osteogenesis Imperfecta, Type Xii
Wormian bones, Generalized osteoporosis, Progressive hearing impairment, Osteoporosis OMIM:613849
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Splenomegaly, Cirrhosis, Hepatocellular carci... OMIM:613490
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Growth delay, Retinal degeneration OMIM:614322
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Menkes Disease
Recurrent fractures, Osteomyelitis, Chondrocalcinosis, Osteoporosis, Wormian bones, Bowing of the... ORPHA:565
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Ventriculomegaly, Macular hypoplasia, Colpocephaly ORPHA:2185
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Premature osteoarthritis, Limb joint contracture, Abnorma... ORPHA:93314
Craniodiaphyseal Dysplasia
Optic atrophy, Conductive hearing impairment, Short stature ORPHA:1513
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Conductive hearing impairment, Talipes equinovarus, Flexion contracture, ... OMIM:602471
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Craniometadiaphyseal Dysplasia
Sclerosis of skull base, Wide anterior fontanel, Osteopenia, Flared metaphysis, Wormian bones, Ge... OMIM:269300
Usher Syndrome, Type 1M
Optic disc pallor, Prelingual sensorineural hearing impairment, Drusen OMIM:618632
Usher Syndrome, Type Iiib
Optic disc pallor, Hearing impairment OMIM:614504
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Hydrocephalus, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Asci... OMIM:269920
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Conductive hearing impairment, Osteopenia, Decreased calvarial ossification,... OMIM:616229
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Shallow... OMIM:252600
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Abnormality of the pubic bone... ORPHA:83468
Multiple Sulfatase Deficiency
Hydrocephalus, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Broad hallux phal... ORPHA:585
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Hydrocephalus, Occipital encephalocele ORPHA:352682
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Retinal degeneration, Camptodactyly of finger, Optic atroph... OMIM:214980
Silver-Russell Syndrome
Clinodactyly of the 5th finger, Delayed cranial suture closure, Low-set, posteriorly rotated ears... ORPHA:813
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Hydrocephalus, Hepatomegaly, Splenomegaly, Flared metaphysis, Facial palsy, Facial par... OMIM:259700
Phaver Syndrome
Joint stiffness, Conductive hearing impairment, Overfolded helix, Broad hallux phalanx, Camptodac... ORPHA:2876
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Microtia, Iliac crest serration, Micromelia, Wormian bones, Hypoplastic isch... OMIM:613320
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Hydrocephalus ORPHA:26
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... OMIM:210720
Retinohepatoendocrinologic Syndrome
Optic disc pallor, Degenerative liver disease, Cone dystrophy OMIM:268040
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Po... OMIM:615631
Mckusick-Kaufman Syndrome
Brachydactyly, Postaxial hand polydactyly, Abnormal metacarpal morphology, Postaxial foot polydac... ORPHA:2473
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice OMIM:129850
Weaver Syndrome
Accelerated skeletal maturation, Prominent fingertip pads, Short fourth metatarsal, Single transv... OMIM:277590
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Clinodactyly OMIM:300928
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Micromelia, Synostosis of carpal bones, Abnormal pelvic girdle bo... ORPHA:289
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Limitation of joint mobility, Camptodactyly of finger, Slender long bone, Abnormality of the wris... ORPHA:2774
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Char Syndrome
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, Symphalangism of the 5th finger, Shor... ORPHA:46627
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Talipes equinovarus OMIM:613162
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Rod-cone dystrophy, Macular degeneration, Retinal degeneration, Optic atr... OMIM:204200
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Genu recurvatum, Long fingers, Recurrent shoulder dislocation, Genu valgum, Pe... ORPHA:230851
Multiple Sulfatase Deficiency
Hydrocephalus, Hepatomegaly, Retinal degeneration, Splenomegaly, Broad hallux, Broad thumb, Ventr... OMIM:272200
Kleeblattschaedel
Hydrocephalus, Elbow ankylosis OMIM:148800
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Retinal dysplasia, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Fibrochondrogenesis 1
Abnormal pinna morphology, Rhizomelia, Dumbbell-shaped long bone, Short long bone, Widely patent ... OMIM:228520
Fried Syndrome
Hydrocephalus, Abnormality of the optic nerve ORPHA:85335
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Wormian bones, Upper limb undergrowth, Pathologic fracture, Short foot, Limitat... ORPHA:166277
Wolfram-Like Syndrome
Abnormal pinna morphology, Congenital sensorineural hearing impairment, Severe postnatal growth r... ORPHA:411590
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Hepatosplenomegaly, Hepatic fibrosis, Talipes equinovarus ORPHA:466794
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Short stature, Papilledema, Optic atrophy, Hearing impairment OMIM:122860
Coffin-Siris Syndrome 6
Conductive hearing impairment, Brachydactyly, Wormian bones, Low-set, posteriorly rotated ears, C... OMIM:617808
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Knee dislocation, Equinus calcaneus, Abnormality of toe, Arachnodactyly, Osteo... ORPHA:536532
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Roifman Syndrome
Short toe, Clinodactyly of the 5th finger, Hepatomegaly, Splenomegaly, Eosinophilia, Brachydactyl... OMIM:616651
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Ventriculomeg... OMIM:614120
Antley-Bixler Syndrome
Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodactyly, Femoral ... ORPHA:83
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Erlenmeyer flask deformity of the femurs, Anemia, Thrombocytopenia, H... OMIM:610539
Mend Syndrome
Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long finger... OMIM:300960
Krabbe Disease
Hydrocephalus, Decreased nerve conduction velocity, Autoimmune thrombocytopenia, Optic atrophy, I... OMIM:245200
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Elbow flexion contracture, Respiratory failure requiring assisted ventilation OMIM:619303
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Osteopenia, Delayed cranial suture closure, Brachydactyly, Worm... OMIM:601812
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, C... ORPHA:794
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Optic atrophy, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Large earlobe, Failure to thrive, Decreased body weight, Small for gestational age, Short stature... OMIM:618346
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Metap... OMIM:300863
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, S... OMIM:268305
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor, Intrauterine growth retardation OMIM:618776
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Split hand, Cutaneous finger s... OMIM:183802
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Occipital Horn Syndrome
Short clavicles, Coxa valga, Short humerus, Osteoporosis, Limited elbow extension, Pes planus, Ge... OMIM:304150
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Optic atrophy, Retrobulbar optic neuritis ORPHA:3151
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy OMIM:616389
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Intellectual Developmental Disorder, Autosomal Recessive 41
Clinodactyly of the 5th finger, Hepatomegaly, Prominent fingertip pads, Splenomegaly, Ventriculom... OMIM:615637
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Cough, Dyspnea, Lymphadenopathy ORPHA:98293
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia ORPHA:163596
Mohr Syndrome
Metaphyseal irregularity, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Conduc... OMIM:252100
Proteus-Like Syndrome
Hydrocephalus, Splenomegaly, Abnormality of the parathyroid gland, Retinal detachment, Communicat... ORPHA:2969
Lenz-Majewski Hyperostotic Dwarfism
Sensorineural hearing impairment, Proximal symphalangism of hands, Hyperextensibility of the fing... OMIM:151050
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Respiratory insufficiency, Ventriculomegaly OMIM:618228
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Growth delay OMIM:274270
Spastic Paraplegia, Optic Atrophy, And Dementia