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Gene: Gdf6 MGI:95689

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Gene Summary

Name:
growth differentiation factor 6
Synonyms:
BMP13

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hydrocephaly Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal optic disk morphology Gdf6em1(IMPC)Ccpcz HET Early adult 1.12×10-11
preweaning lethality, complete penetrance Gdf6em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged spleen Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spleen morphology Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal brain morphology Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
enlarged thymus Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
increased lung tissue damping Gdf6em1(IMPC)Ccpcz HET Early adult 2.22×10-06
abnormal thymus morphology Gdf6em1(IMPC)Ccpcz HET Early adult 0.00
abnormal digit morphology Gdf6em1(IMPC)Ccpcz HET   Early adult 2.37×10-06
abnormal retina blood vessel morphology Gdf6em1(IMPC)Ccpcz HET   Early adult 3.12×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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XRay Images Forepaw

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Synostoses Syndrome 4
Broad foot, Otosclerosis, Overlapping toe, Brachydactyly, Tarsal synostosis, Pes planus OMIM:617898
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Conductive hearing impairment, Sensorineural hearing impairment,... OMIM:118100
Leber Congenital Amaurosis
Abnormal optic disc morphology, Hearing impairment, Abnormality of retinal pigmentation ORPHA:65
Isolated Klippel-Feil Syndrome
Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Hearing impairment, ... ORPHA:2345
Microphthalmia, Isolated 4
Absent testis, Postaxial polydactyly OMIM:613094
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Leber Congenital Amaurosis 17
OMIM:615360

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
Proximal symphalangism of hands, Metacarpophalangeal synostosis, Stapes ankylosis, Conductive hea... OMIM:185800
Multiple Synostoses Syndrome 4
Broad foot, Otosclerosis, Overlapping toe, Brachydactyly, Tarsal synostosis, Pes planus OMIM:617898
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis, Proximal/middle sym... OMIM:184460
Tarsal-Carpal Coalition Syndrome
Proximal symphalangism of hands, Hearing abnormality, Progressive fusion 2nd-5th pip joints, Shor... OMIM:186570
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Sensorineural hearing impairment, Finger... ORPHA:3250
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment, Reduced proximal interphalangeal joint space, Abnormal palmar derm... ORPHA:3246
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Abnormality of the ankle, Abnormality of the wrist, Carp... ORPHA:2010
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of t... OMIM:128980
Brachydactyly, Type B2
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... OMIM:611377
Multiple Synostoses Syndrome 1
2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive hearing... 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
Round ear, Ulnar deviation of the wrist, Ulnar deviation of finger, Joint stiffness, Adducted thu... ORPHA:1147
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of carpal bones, Abno... ORPHA:90650
Ulnar Hemimelia
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... ORPHA:93320
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Acromesomelic Dysplasia, Hunter-Thompson Type
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... ORPHA:968
Dysplasia Epiphysealis Hemimelica
Genu varum, Genu valgum, Recurrent fractures, Flattened femoral head, Osteoarthritis, Accelerated... ORPHA:1822
Steel Syndrome
Sensorineural hearing impairment, Coxa vara, Hip dislocation, Carpal synostosis, Clinodactyly of ... OMIM:615155
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Abnormality of t... ORPHA:1836
Talonavicular Coalition
Proximal/middle symphalangism of 5th finger, Foot pain, Coalescence of tarsal bones, Clinodactyly... OMIM:186750
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Short metacarpal, Short lon... OMIM:614078
Multiple Synostoses Syndrome 3
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... OMIM:612961
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... ORPHA:1275
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Synostoses, Tarsal, Carpal, And Digital
Metacarpophalangeal synostosis, Short metacarpal, Carpal synostosis, Aplasia/Hypoplasia of the mi... OMIM:186400
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... OMIM:112910
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... ORPHA:2639
Temtamy Preaxial Brachydactyly Syndrome
Tibial deviation of the 2nd toe, Short hallux, Radial deviation of finger, Abnormal digit morphol... ORPHA:363417
Otopalatodigital Syndrome, Type I
Delayed closure of the anterior fontanelle, Conductive hearing impairment, Short 4th metacarpal, ... OMIM:311300
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... ORPHA:93351
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Mesomelia-Synostoses Syndrome
Genu valgum, Abnormality of the knee, Abnormal foot morphology, Abnormality of the humerus, Synos... ORPHA:2496
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Temtamy Preaxial Brachydactyly Syndrome
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Brachydactyly, Syndacty... OMIM:605282
Muenke Syndrome
Short middle phalanx of toe, Sensorineural hearing impairment, Capitate-hamate fusion, Coronal cr... OMIM:602849
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorineural hearing impairment,... ORPHA:1307
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Microtia, Abnormal metacarpal morphology, Abnormal pelvic girdle bone morpholo... ORPHA:3429
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... ORPHA:2633
Nievergelt Syndrome
Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Tarsal synostosis, Talipes equinovarus... OMIM:163400
Craniosynostosis, Adelaide Type
Carpal bone malsegmentation, Hallux valgus, Shortening of all distal phalanges of the fingers, Co... OMIM:600593
Radial Hemimelia
Deviation of the hand or of fingers of the hand, Aplasia of the 1st metacarpal, Abnormality of th... ORPHA:93321
Humeroradial Synostosis With Craniofacial Anomalies
Small earlobe, Humeroradial synostosis, Microtia, Carpal synostosis, Tarsal synostosis OMIM:236410
Distal Symphalangism
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... ORPHA:3248
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Jackson-Weiss Syndrome
Broad first metatarsal, 2-3 toe syndactyly, Broad distal phalanx of the hallux, Short first metat... OMIM:123150
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Muenke Syndrome
Sensorineural hearing impairment, Coronal craniosynostosis, Carpal synostosis, Short palm, Tarsal... ORPHA:53271
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... OMIM:102510
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Abnormality of the ankle ORPHA:1412
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl... OMIM:178110
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormality of the wrist, Limitation of joint m... ORPHA:3265
Cardiospondylocarpofacial Syndrome
Short palm, Synostosis of carpal bones, Conductive hearing impairment, Brachydactyly ORPHA:3238
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Hearing impairment, Brachydactyly ORPHA:35099
Acropectorovertebral Dysplasia
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Broa... ORPHA:957
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Hearing impairment, Optic atrophy OMIM:617717
Banki Syndrome
Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brach... ORPHA:1228
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... ORPHA:2741
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Short 1st metacarpal, Broad middle phalanx of finger, Delayed ossification of carpal bones, Clino... OMIM:182255
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... ORPHA:2492
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Flat capital femoral epip... OMIM:147891
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi... ORPHA:750
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Joint stiffness, Posterior fusion of lumbosacral vertebrae ORPHA:2064
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Stapes ankylosis, Coxa vara, Short femoral neck, Radioulnar synostosis, Clino... OMIM:614701
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... OMIM:112500
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... ORPHA:71289
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Disloc... OMIM:305620
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal symphalangism ... OMIM:185700
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad femoral neck, Genu valgum, Upper limb undergrowth, Broad foot, Coxa vara, Capitate-hamate f... OMIM:271650
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, T... OMIM:618469
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Sensorineural hearing impairment, Joint contracture of the hand, Cutaneo... OMIM:148820
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormality of the upper limb, Abnormal finger morphology, Cutaneous fin... ORPHA:896
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Talipes equinovaru... OMIM:206920
Hao-Fountain Syndrome
Delayed cranial suture closure, Hallux valgus, Clinodactyly of the 5th finger, Large fontanelles,... OMIM:616863
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Macrotia, Short femoral neck, Delayed ossification of carpal bones, Brachydactyly, Posteriorly ro... OMIM:618392
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Progressive sensorineural hearing impairment, Optic atrophy OMIM:165199
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,... ORPHA:2634
Dermatoosteolysis, Kirghizian Type
Abnormal foot morphology, Abnormality of the wrist, Osteolysis, Abnormal diaphysis morphology, Ab... ORPHA:1657
Cenani-Lenz Syndrome
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... ORPHA:3258
Seckel Syndrome 7
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Microtia, Hip dysplasia, Clin... OMIM:614851
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Broad foot, Flexion contracture, Elbow flexion contracture, Stiff ankle, Metatarsal syn... ORPHA:93307
Ivic Syndrome
Limited interphalangeal movement, Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limi... OMIM:147750
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal antihelix morphology, Macrotia, Finger syndactyly, Abnormality of the elbow, Synostosis ... ORPHA:1005
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, Bilateral sensorineural hearing impairment, 1-2 toe syndactyly, 4-5 t... ORPHA:488232
Arthrogryposis, Distal, Type 1A
Ulnar deviation of the hand or of fingers of the hand, Elbow flexion contracture, Camptodactyly, ... OMIM:108120
Langer Mesomelic Dysplasia
Aplasia/Hypoplasia of the fibula, Short femoral neck, Abnormal carpal morphology, Ulnar deviation... ORPHA:2632
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Carpal synostosis OMIM:156232
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot... OMIM:609441
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... ORPHA:1106
Spondylocarpotarsal Synostosis Syndrome
C2-C3 subluxation, Vertebral fusion, Sensorineural hearing impairment, Coxa vara, Capitate-hamate... OMIM:272460
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Increased bone mineral density, Flared iliac wing, Synostosis of carpal ... ORPHA:90652
Osteogenesis Imperfecta, Type Iv
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Otosclerosis, R... OMIM:166220
Hand-Foot-Genital Syndrome
Short first metatarsal, Short 1st metacarpal, Microtia, Synostosis of carpal bones, Clinodactyly ... ORPHA:2438
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Ectopic ossification in ligament tissue, Clinodactyly of the 5th finger, Abnormali... ORPHA:337
Congenital Vertical Talus
Distal arthrogryposis, Abnormality of the foot musculature, Foot pain, Achilles tendon contractur... ORPHA:178382
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... ORPHA:50809
Epiphyseal Dysplasia, Multiple, 5
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... OMIM:607078
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly, Hydrocephalus, Ventriculomegaly OMIM:615938
Winchester Syndrome
Arthropathy, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis, Osteolysis involving... OMIM:277950
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Sagittal craniosynostosis, Distal symphalangism of hands, 3-4 finger syndacty... OMIM:185900
Platyspondylic Dysplasia, Torrance Type
Genu varum, Metaphyseal cupping, Abnormal carpal morphology, Hypoplastic pelvis, Hypoplasia of th... ORPHA:85166
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Synostosis of carpal bones, Bilateral single transverse palmar... ORPHA:3191
Seizures, Cortical Blindness, And Microcephaly Syndrome
Short stature, Growth delay, Optic atrophy OMIM:616632
Osteogenesis Imperfecta, Type I
Increased susceptibility to fractures, Otosclerosis, Recurrent fractures, Femoral bowing, Joint h... OMIM:166200
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Hearing impairment, Optic atrophy OMIM:617087
49,Xyyyy Syndrome
Short 5th finger, Generalized joint laxity, Bridged palmar crease, Lop ear, Radioulnar synostosis... ORPHA:99330
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... OMIM:127300
Tenosynovial Giant Cell Tumor
Abnormality of the knee, Conductive hearing impairment, Synovial hypertrophy, Abnormality of the ... ORPHA:66627
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Conductive hearing impairment, Flexion contracture, Humeroradial s... ORPHA:95699
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Sensorineural hearing impairment, Short femoral neck, Slender long bones with narrow... OMIM:608154
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Ribose 5-Phosphate Isomerase Deficiency
Increased level of xylitol in CSF, Increased level of D-threitol in CSF, Optic atrophy, Increased... OMIM:608611
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Wrist pain, Abnormal morphology of the radius, Radioulnar sy... ORPHA:3269
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Vacuolated lymphocytes, Optic atrophy OMIM:609055
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Radial deviation of the hand, Metatarsal synostosis, Oligodactyly, Promin... ORPHA:2756
Ivic Syndrome
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno... ORPHA:2307
Larsen-Like Syndrome
Conductive hearing impairment, Joint dislocation, Wide anterior fontanel, Clinodactyly of the 5th... OMIM:608545
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Coxa vara, Optic atrophy, Cone/cone-rod dystrophy, Short femoral neck, Retina... OMIM:602271
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis, 2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of th... OMIM:309630
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Optic atrophy ORPHA:1538
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... OMIM:609432
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... ORPHA:240
Craniosynostosis And Dental Anomalies
Short phalanx of finger, 2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Sag... OMIM:614188
Tarsal Coalition
Tarsal synostosis OMIM:186850
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Delayed skeletal maturation... OMIM:617974
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Cardiospondylocarpofacial Syndrome
Fusion of middle ear ossicles, Conductive hearing impairment, Pseudoepiphyses, Enlarged vestibula... OMIM:157800
Liberfarb Syndrome
Sensorineural hearing impairment, Short stature, Retinal degeneration, Retinal pigment epithelial... OMIM:618889
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Hearing impairment, Optic atrophy OMIM:165300
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip... OMIM:617719
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Genu recurvatum, Delaye... OMIM:177170
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... OMIM:609655
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... OMIM:176240
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Ankle clonus, ... ORPHA:1435
Apert Syndrome
Delayed cranial suture closure, Humeroradial synostosis, Large fontanelles, Postaxial hand polyda... OMIM:101200
Arthrogryposis, Distal, Type 2B1
Camptodactyly of finger, Absent phalangeal crease, Distal arthrogryposis, Ulnar deviation of the ... OMIM:601680
Juberg-Hayward Syndrome
Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Abno... OMIM:216100
Auriculoosteodysplasia
Macrotia, Aplasia/Hypoplasia of the earlobes, Hip dysplasia, Abnormal metacarpal morphology, Abno... ORPHA:114
Ruvalcaba Syndrome
Cone-shaped epiphysis, Abnormality of the elbow, Short metacarpal, Small hand, Synostosis of carp... ORPHA:3121
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Roberts Syndrome
Wrist flexion contracture, Phocomelia, Radial deviation of finger, Synostosis of carpal bones, Pr... ORPHA:3103
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of f... ORPHA:1802
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia OMIM:165590
Arthrogryposis, Distal, Type 11
Talipes equinovarus, Camptodactyly, Metatarsus adductus, Absent proximal finger flexion creases, ... OMIM:620019
Larsen Syndrome
Accessory carpal bones, Conductive hearing impairment, Finger syndactyly, Large joint dislocation... ORPHA:503
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Wolfram-Like Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo... OMIM:614296
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615937
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy, Ventriculomegaly ORPHA:2732
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Attenuation of retinal blood vessels, Optic atrophy OMIM:165510
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Hip osteoarthritis, Delayed ossification of carpal bones... OMIM:105835
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Increased susceptibility to fractures, Advanced ossification of carpal bones, Hypoplastic ilia, H... OMIM:615349
Alpha-Mannosidosis
Macrotia, Avascular necrosis, Hypoplastic inferior ilia, Hip dysplasia, Arthritis, Synostosis of ... ORPHA:61
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle... OMIM:221300
Optic Atrophy 5
Optic atrophy OMIM:610708
Pseudoaminopterin Syndrome
Hip subluxation, Short 4th metacarpal, Clinodactyly of the 5th toe, Clubbing of fingers, Overlapp... ORPHA:221120
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Sensorineural hearing impairment, Short foot, Hypoplastic pubic bone, Enl... OMIM:609616
Pfeiffer Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Hip dysplasia, Synostosis o... ORPHA:710
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... ORPHA:1350
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mesomelia-Synostoses Syndrome
Short phalanx of finger, Progressive forearm bowing, Ulnar deviation of the hand or of fingers of... OMIM:600383
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Patellar ... OMIM:228900
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Delayed cranial suture closure, Aplastic clavicle, Wide anterior fontanel, Coronal craniosynostos... ORPHA:85199
Abruzzo-Erickson Syndrome
Macrotia, Radioulnar synostosis, Hearing impairment, Protruding ear OMIM:302905
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Microtia, Hip dysplasia, Clin... ORPHA:319675
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Hydrocephalus OMIM:209970
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... ORPHA:93360
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Clinodactyly of the 5th finger, Large earlobe, Unusual dermatoglyphics, Broad toe, Persistent ope... ORPHA:262767
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... ORPHA:3216
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Broad foot, Conductive hearing impairment, Flat glenoid fossa, Short palm, Genu valgum, Metaphyse... OMIM:250420
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... ORPHA:457395
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Joint stiffness, Abnormal... ORPHA:1323
Schinzel-Giedion Syndrome
Infantile sensorineural hearing impairment, Hypoplastic pubic bone, Low-set ears, Short 1st metac... ORPHA:798
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Delayed cranial suture closure, Hearing abnormality, Cone-shaped epiphysis, Abnormal finger morph... ORPHA:2511
Desbuquois Syndrome
Camptodactyly of finger, Coxa valga, Coxa vara, Small hand, Patellar dislocation, Accelerated ske... ORPHA:1425
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Absent trapezium, Apla... OMIM:606895
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Sensorineural hearing impairment, Optic atrophy OMIM:620086
Congenital Disorder Of Glycosylation, Type Iaa
Attenuation of retinal blood vessels, Failure to thrive, Intrauterine growth retardation, Optic d... OMIM:617082
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Aicardi-Goutieres Syndrome 4
Respiratory insufficiency, Ventriculomegaly, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, CSF... OMIM:610333
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger, Osteoporosis, Wormian bones ORPHA:2787
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Brachydactyly Type A1
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... ORPHA:93388
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hydrocephalus OMIM:166990
Severe X-Linked Intellectual Disability, Gustavson Type
Triphalangeal thumb, Macrotia, Small fontanelle, Contractures of the large joints, Equinovarus de... ORPHA:3078
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Delayed phalangeal epiphyseal ossification, Flat capital femoral epiphysis, Dislocated radial hea... OMIM:603546
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Char Syndrome
Low-set ears, Clinodactyly of the 5th finger, Protruding ear, Distal/middle symphalangism of 5th ... OMIM:169100
Tukel Syndrome
Syndactyly, Carpal bone aplasia, Postaxial oligodactyly, Carpal synostosis OMIM:609428
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... OMIM:271640
Combined Saposin Deficiency
Optic atrophy, Splenomegaly, Hepatomegaly OMIM:611721
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Optic atrophy, Small hand, Hepatomegaly OMIM:300884
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Ventriculomegaly, Optic atrophy, Flexion contracture of toe OMIM:619323
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Advanced ossification of carpal bones, Coxa valga, Short femoral neck, Hip contractu... OMIM:618363
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Limitation of joint mobility, Abnormal pel... ORPHA:2725
Lethal Osteosclerotic Bone Dysplasia
Delayed cranial suture closure, Low-set ears, Large fontanelles, Posteriorly rotated ears ORPHA:1832
Congenital Toxoplasmosis
Anemia, Ventriculomegaly, Ascites, Jaundice, Hydrocephalus, Abnormality of retinal pigmentation, ... ORPHA:858
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Multicentric Carpotarsal Osteolysis Syndrome
Wrist swelling, Ulnar deviation of the hand or of fingers of the hand, Wrist pain, Metatarsal ost... OMIM:166300
Merrf
Short stature, Sensorineural hearing impairment, Optic atrophy ORPHA:551
Baller-Gerold Syndrome
Absent thumb, Conductive hearing impairment, Aplasia of metacarpal bones, Aphalangy of the hands,... OMIM:218600
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Abnormal foot morphology, Elbow flexion contracture, Flared iliac wing, Flat acetabula... OMIM:184252
Joubert Syndrome 33
Apnea, Syndactyly, Splenomegaly, Cone/cone-rod dystrophy OMIM:617767
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Genu valgum, Ventriculomegaly, Short long bone, Retinal degeneration, Hydroceph... OMIM:615630
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Hip dislocation, Phocome... OMIM:274000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Desbuquois Dysplasia 1
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... OMIM:251450
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Hypoplastic pubic bone, Restricted large joint movement, Short long bone, Delayed ossification of... ORPHA:93346
Orofaciodigital Syndrome Type 1
Short toe, Preaxial hand polydactyly, Cone-shaped epiphysis, Finger syndactyly, Foot polydactyly,... ORPHA:2750
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... OMIM:610797
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... OMIM:142900
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema, Progressive hearing impairment, Bilateral sensorine... OMIM:124950
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... OMIM:601356
Treacher Collins Syndrome 2
Fusion of middle ear ossicles, Conductive hearing impairment, Anotia, Microtia OMIM:613717
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor OMIM:609021
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Splenomegaly, Hepatomegaly ORPHA:139406
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Small for gestational age, Severe short stature, Growth delay, Intrauterine growth... OMIM:619057
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Genu valgum, Hypoplastic acetabulae, Broad femoral neck, Coxa vara, Wide p... ORPHA:239
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Abnormal carpal morphology, Abnor... ORPHA:1225
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Hearing impairment, Optic atrophy ORPHA:1186
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... OMIM:127200
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Vertical Talus, Congenital
Calcaneovalgus deformity, Equinus calcaneus, Rocker bottom foot, Arthritis OMIM:192950
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Cutis Laxa, Autosomal Dominant 3
Delayed cranial suture closure, Hip dislocation, Protruding ear, Adducted thumb, Wormian bones, O... OMIM:616603
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short femoral neck, Short metacarpal, Microtia, Narrow pelvis bone, Carpal bone hypoplasia, Femor... OMIM:616723
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Multiple suture craniosynostosis, Premature posterior fontan... ORPHA:3369
Pelviscapular Dysplasia
Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, Short femur, Brachydactyly,... ORPHA:93333
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hydrocephalus, Optic atrophy OMIM:619470
Acrootoocular Syndrome
Decreased palmar creases, Short toe, Conductive hearing impairment, Sensorineural hearing impairm... ORPHA:2980
Otosclerosis 10
Otosclerosis OMIM:615589
Wt Limb-Blood Syndrome
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Sensorineural hearing impairment... OMIM:194350
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Meckel Syndrome, Type 3
Polydactyly, Hepatic fibrosis, Hydrocephalus, Malformation of the hepatic ductal plate, Postaxial... OMIM:607361
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Abnormal macular morphology, Dyspnea, Bone-marrow foam cells, Hep... OMIM:607616
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... ORPHA:380
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Failure to thrive, Intrauterine growth retardation, Neonatal death, Hearing impair... OMIM:618237
Osteopetrosis, Autosomal Recessive 2
Anemia, Genu valgum, Cranial nerve compression, Optic atrophy, Hydrocephalus, Pancytopenia, Hepat... OMIM:259710
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Stippled calci... ORPHA:51608
Ulna Hypoplasia-Intellectual Disability Syndrome
Delayed cranial suture closure, Hypoplasia of the radius, Ulnar deviation of finger, Elbow disloc... ORPHA:2249
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures, Wormian bones ORPHA:2773
Brachydactyly, Type B1
Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th... OMIM:113000
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Finger syndactyly, Toe syndactyly, Synostosis of carpal bones, Clinodact... ORPHA:1507
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Acitretin/Etretinate Embryopathy
Abnormality of the calcaneus, Microtia, Aplasia/hypoplasia involving bones of the upper limbs, An... ORPHA:40366
Striatonigral Degeneration, Infantile
Failure to thrive, Optic atrophy OMIM:271930
Distal Monosomy 17Q
Aplasia/Hypoplasia of the thumb, Small hand, Microtia, Abnormal metacarpal morphology, Prominent ... ORPHA:1597
Multiple Osteochondromas
Coxa valga, Abnormal carpal morphology, Genu valgum, Abnormality of the knee, Abnormal hand morph... ORPHA:321
Immunodeficiency 104
T lymphocytopenia, Lymphadenopathy, Hepatomegaly, Pneumonia, Splenomegaly OMIM:608971
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hip subluxation, Genu valgum, Coxa valga, Irregular carpal bones, Ivory epiphyses of the phalange... OMIM:226980
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Conductive hearing impairment, Aplasia/Hypoplasia of the thumb,... OMIM:171480
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Low-set ears, Wormian bones, Brachydactyly ORPHA:2863
1Q21.1 Microduplication Syndrome
Hip dysplasia, Hydrocephalus, Hip dislocation, Cryptorchidism, Talipes equinovarus ORPHA:250994
17Q24.2 Microdeletion Syndrome
Upper limb undergrowth, Otosclerosis, Microtia, Abnormality of the wrist, Recurrent otitis media,... ORPHA:529962
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Hydrocephalus, Ventriculomegaly OMIM:614830
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Slender long bone, Multiple prenatal fractures, Reduced bone mineral density... OMIM:619795
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of the ankle, Wormian b... ORPHA:970
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Tapered finger, Short femoral neck, Patellar dislocation, Multiple join... OMIM:618395
Diencephalic Syndrome
Large hands, Hydrocephalus, Optic atrophy ORPHA:1672
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Hypoplastic iliac wing, Short toe, Flexion contracture, Short foot, Shor... OMIM:611717
Cleidocranial Dysplasia 2
Genu valgum, Coxa valga, Aplastic clavicle, Wide anterior fontanel, Delayed ossification of carpa... OMIM:620099
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Rod-cone dystrophy, Sensorineural hearing impairment, Optic atrophy, Hearin... OMIM:311070
Smith-Mccort Dysplasia 2
Short phalanx of finger, Broad femoral neck, Genu valgum, Metaphyseal irregularity, Short metacar... OMIM:615222
Orofaciodigital Syndrome Xvii
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Prominent... OMIM:617926
Osteogenesis Imperfecta, Type V
Anterior radial head dislocation, Hyperextensibility of the finger joints, Recurrent fractures, P... OMIM:610967
Larsen Syndrome
Vertebral fusion, Conductive hearing impairment, Accessory carpal bones, Spatulate thumbs, Short ... OMIM:150250
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Metaphyseal chondrodysplasia, M... ORPHA:163966
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles, Widely patent fontanelles and sutures, Microtia OMIM:168550
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Hearing impairment, Optic atrophy OMIM:309555
Chromosome 16Q22 Deletion Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Hip dysplasia, Prominent metopic ridge,... OMIM:614541
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Farber Lipogranulomatosis
Osteolytic defects of the phalanges of the hand, Respiratory insufficiency, Osteolysis involving ... OMIM:228000
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly, Optic atrophy OMIM:617281
Albers-Schönberg Osteopetrosis
Anemia, Genu valgum, Optic atrophy, Abnormal metacarpal morphology, Hydrocephalus, Short distal p... ORPHA:53
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Ventriculomegaly, Joint contracture of the hand, Preaxial foot polydac... OMIM:175700
Acrocraniofacial Dysostosis
Triphalangeal thumb, Genu valgum, Conductive hearing impairment, Sensorineural hearing impairment... ORPHA:949
Three M Syndrome 3
Hip dysplasia, Slender long bone, Clinodactyly of the 5th finger, Joint hypermobility, Prominent ... OMIM:614205
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Radial club hand, Aplasia/Hypopla... ORPHA:2878
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Neonatal Severe Primary Hyperparathyroidism
Abnormal metaphysis morphology, Splenomegaly, Hepatomegaly ORPHA:417
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Dyspnea, Hemolytic anemia ORPHA:228312
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Deafness, Dystonia, And Cerebral Hypomyelination
Failure to thrive, Sensorineural hearing impairment, Intrauterine growth retardation, Optic atrophy OMIM:300475
Sandhoff Disease
Cherry red spot of the macula, Splenomegaly, Hepatomegaly ORPHA:796
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Accelerated skeletal maturation, Generalized osteosclerosi... OMIM:215045
Multicentric Osteolysis, Nodulosis, And Arthropathy
Wrist flexion contracture, Delayed closure of the anterior fontanelle, Metacarpal osteolysis, Pes... OMIM:259600
Sclerosteosis
Finger syndactyly, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of the hand, Dia... ORPHA:3152
Masa Syndrome
Adducted thumb, Hydrocephalus, Ventriculomegaly, Talipes equinovarus OMIM:303350
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Ellis-Van Creveld Syndrome
Hypoplastic iliac wing, Genu valgum, Capitate-hamate fusion, Short long bone, Cone-shaped epiphys... OMIM:225500
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Bronchiectasis, Hepatocellular carcinoma, Chronic pulmonary obstruction,... OMIM:613490
Congenital Hydrocephalus
Ventriculomegaly, Optic atrophy, Macular hypoplasia, Hydrocephalus, Colpocephaly ORPHA:2185
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Enthesitis-Related Juvenile Idiopathic Arthritis
Sacroiliac arthritis, Oligoarthritis, Thickened Achilles tendon, Abnormality of the elbow, Abnorm... ORPHA:85438
Trimethylaminuria
Recurrent pneumonia, Anemia, Neutropenia, Splenomegaly OMIM:602079
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Usher Syndrome, Type 1M
Optic disc pallor, Drusen, Prelingual sensorineural hearing impairment OMIM:618632
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Phaver Syndrome
Camptodactyly of finger, Triphalangeal thumb, Conductive hearing impairment, Aplasia/Hypoplasia o... ORPHA:2876
Osteopetrosis, Autosomal Recessive 8
Anemia, Optic atrophy, Hepatomegaly, Thrombocytopenia, Splenomegaly, Facial palsy OMIM:615085
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic iliac wing, Genu varum, Genu valgum, Metaphyseal irregularity, Coxa vara, Hypoplastic... OMIM:613330
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Osteogenesis Imperfecta, Type Xiii
Wide pubic symphysis, Wide distal femoral metaphysis, Angulated humerus, Recurrent fractures, Inc... OMIM:614856
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Menkes Disease
Chondrocalcinosis, Osteomyelitis, Recurrent fractures, Joint hyperflexibility, Abnormal metaphysi... ORPHA:565
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Hydrocephalus, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocy... OMIM:269920
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, De... OMIM:617514
Craniodiaphyseal Dysplasia
Short stature, Conductive hearing impairment, Optic atrophy ORPHA:1513
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, CSF pleocytosis, Hepatomegaly, Increased CSF interferon alpha, Thrombocytopenia... OMIM:615010
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal long bone morphology, Abnormal bone ossification, Increased bone miner... ORPHA:166119
Usher Syndrome, Type Iiib
Optic disc pallor, Hearing impairment OMIM:614504
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Growth delay, Optic atrophy OMIM:614322
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Solitary Bone Cyst
Proximal femoral metaphyseal abnormality, Abnormality of the medullary cavity of the long bones, ... ORPHA:83468
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Mckusick-Kaufman Syndrome
Finger syndactyly, Abnormal metacarpal morphology, Postaxial foot polydactyly, Brachydactyly, Pos... ORPHA:2473
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Coxa valga, Wide anterior fontanel, Flared metaphysis, Osteopenia, Cubit... OMIM:269300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Optic atrophy ORPHA:352682
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... OMIM:609260
Odontochondrodysplasia 1
Short phalanx of finger, Genu varum, Metaphyseal cupping, Short metacarpal, Short long bone, Flar... OMIM:184260
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Silver-Russell Syndrome
Delayed cranial suture closure, Abnormality of the calcaneus, Clinodactyly of the 5th finger, Upp... ORPHA:813
Osteogenesis Imperfecta, Type Xii
Progressive hearing impairment, Hyperextensibility of the finger joints, Recurrent fractures, Bow... OMIM:613849
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Narrow pelvis bone, Delayed skeletal maturation, Limited elbow extension, Pseudoepiphyses of the ... OMIM:210720
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Hydrocephalus, Abnormality of retinal ... ORPHA:585
Cardiac-Valvular Ehlers-Danlos Syndrome
Absent phalangeal crease, Recurrent shoulder dislocation, Genu valgum, Joint dislocation, Hallux ... ORPHA:230851
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, Retinopathy, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F... ORPHA:251380
Osteopetrosis, Autosomal Recessive 1
Anemia, Coxa vara, Optic atrophy, Hydrocephalus, Pancytopenia, Flared metaphysis, Hepatomegaly, F... OMIM:259700
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Hydrocephalus ORPHA:26
Dyggve-Melchior-Clausen Disease
Broad foot, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus,... OMIM:223800
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... OMIM:620102
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Peg-like central prominence of distal tibial metaphyses, Broad foot, Flexion contracture, Coxa va... OMIM:300232
Mucolipidosis Iii Alpha/Beta
Short long bone, Irregular carpal bones, Carpal bone hypoplasia, Split hand, Soft tissue swelling... OMIM:252600
Coffin-Siris Syndrome 6
Conductive hearing impairment, Clinodactyly, Wormian bones, Brachydactyly, Low-set ears, Posterio... OMIM:617808
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... OMIM:609637
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wrist swelling, Camptodactyly of finger, Slender long bone, Abnormality of the wrist, Limitation ... ORPHA:2774
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Char Syndrome
Mesoaxial foot polydactyly, Short middle phalanx of the 5th finger, Toe syndactyly, Hand polydact... ORPHA:46627
Roifman Syndrome
Short toe, Hip contracture, Short metacarpal, Retinal dystrophy, Short digit, Clinodactyly of the... OMIM:616651
Osteopetrosis, Autosomal Recessive 4
Anemia, Optic atrophy, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Optic disc pallor, Spleno... OMIM:611490
Hajdu-Cheney Syndrome
Osteolytic defects of the phalanges of the hand, Crowded carpal bones, Foot acroosteolysis, Condu... OMIM:102500
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Delayed ossification of pubic rami, Joint contracture, Hip disloca... OMIM:602471
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Broad foot, Conductive hearing impairment, Humeroradial synostosis, Joint contracture of the hand... OMIM:201750
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Syndactyl... OMIM:615631
Immunodeficiency 48
Absence of CD8-positive T cells, Pneumonia, Splenomegaly, Hepatomegaly OMIM:269840
Intellectual Developmental Disorder, X-Linked 101
Clinodactyly, Optic atrophy OMIM:300928
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Vacuolated lymphoc... OMIM:204200
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Antley-Bixler Syndrome
Camptodactyly of finger, Delayed cranial suture closure, Recurrent fractures, Elbow ankylosis, Na... ORPHA:83
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Weaver Syndrome
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Pes cavus, Radial deviation of f... OMIM:277590
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Recurrent fractures, Short long bone, Joint hypermobility, Osteope... OMIM:616229
Multiple Sulfatase Deficiency
Peripheral demyelination, Ventriculomegaly, Retinal degeneration, Hydrocephalus, Broad hallux, Br... OMIM:272200
Fried Syndrome
Abnormal optic nerve morphology, Hydrocephalus ORPHA:85335
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Metaphyseal cupping, Microtia, Short long bone, Hypoplastic ischia, Large ... OMIM:613320
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Limitation of joint mobility, Pathologic fracture, Toe clinodactyly, Shor... ORPHA:166277
Kleeblattschaedel
Elbow ankylosis, Hydrocephalus OMIM:148800
Intellectual Developmental Disorder, Autosomal Recessive 41
Ventriculomegaly, Clinodactyly of the 5th finger, Recurrent pneumonia, Hepatomegaly, Prominent fi... OMIM:615637
Hydrolethalus Syndrome 2
Ventriculomegaly, Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot polydacty... OMIM:614120
Ellis Van Creveld Syndrome
Genu valgum, Capitate-hamate fusion, Foot polydactyly, Synostosis of carpal bones, Hand polydacty... ORPHA:289
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Broad hallux, Syndactyly... OMIM:212780
Wolfram-Like Syndrome
Optic atrophy, Delayed puberty, Peripheral axonal neuropathy, Congenital sensorineural hearing im... ORPHA:411590
Classical-Like Ehlers-Danlos Syndrome Type 2
Shoulder dislocation, Macrotia, Radioulnar dislocation, Hallux valgus, Joint dislocation, Abnorma... ORPHA:536532
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Hydrocephalus, Anemia OMIM:619302
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Widely patent coronal suture, Short foot, Joint contracture of the han... OMIM:228520
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Vitamin K Antagonist Embryofetopathy
Respiratory insufficiency, Myelomeningocele, Optic atrophy, Epiphyseal stippling, Hydrocephalus, ... ORPHA:1914
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Hepatomegaly, Thrombocytopenia, ... OMIM:610539
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Triphalangeal thumb, Delayed cranial suture closure, Conductive he... ORPHA:794
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Frontal encephalocele ORPHA:1528
Krabbe Disease
Optic atrophy, Hydrocephalus, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, I... OMIM:245200
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Congenital stationary night blindness, Optic disc pallor OMIM:616389
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Abnormal leukocyte morphology, Optic atrophy ORPHA:3151
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Intrauterine growth retardation, Optic atrophy OMIM:618776
Diamond-Blackfan Anemia 11
Absent thumb, Forearm reduction defects, Hypoplasia of the radius, Radioulnar synostosis, Hypopla... OMIM:614900
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus, Polycystic ovaries, Retinal detachment, Abnormality o... ORPHA:2969
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Talipes equinovarus, Optic atrophy, Hepatosplenomegaly ORPHA:466794
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Decreased body weight, Optic atrophy, Short stature, Small for gestational age, Large earlobe, Fa... OMIM:618346
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Optic atrophy, Triceps weakness, Hydrocephalus, Senso... ORPHA:99947
Craniodiaphyseal Dysplasia, Autosomal Dominant
Short stature, Optic atrophy, Facial diplegia, Papilledema, Hearing impairment OMIM:122860
Hb Bart'S Hydrops Fetalis
Anemia, Hydrocephalus, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Mitochondrial Complex I Deficiency, Nuclear Type 6
Respiratory insufficiency, Ventriculomegaly, Optic atrophy OMIM:618228
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Mohr Syndrome
Metaphyseal irregularity, Conductive hearing impairment, Preaxial hand polydactyly, Preaxial foot... OMIM:252100
Hodgkin Lymphoma
Lymphadenopathy, Dyspnea, Cough, Hepatomegaly, Splenomegaly ORPHA:98293
Grant Syndrome
Joint dislocation, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Larg... ORPHA:2097
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Pneumothorax, Bronchiectasis, Hypoxemia, Clubbing, Pleural effus... OMIM:612387
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:613862
Infantile Cerebellar-Retinal Degeneration
Sensorineural hearing impairment, Decreased body weight, Optic atrophy, Retinal dystrophy, Failur... OMIM:614559
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Ventriculomegaly, Hydrocephalus, Syndactyly, Leukemia OMIM:602501
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Bowing of limbs due to multiple fractures, Wide anterior fontanel, Recurrent... OMIM:259420
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Hydrocephalus, Retinal coloboma, Cryptorchidism OMIM:601794
Glut1 Deficiency Syndrome 2
Hypoglycorrhachia, Hemolytic anemia, Reticulocytosis, Increased CSF lactate, Splenomegaly OMIM:612126
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Three M Syndrome 2
Short 5th finger, Slender long bone, Clinodactyly, Prominent calcaneus, Delayed skeletal maturati... OMIM:612921