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Gene: Gdf6 MGI:95689

Gene Summary

Name:

growth differentiation factor 6

Synonyms:

BMP13

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Gdf6^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal retina morphology	Gdf6^{em1(IMPC)Ccpcz}	HET	Early adult	3.01×10^-06
enlarged spleen	Gdf6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal retina blood vessel morphology	Gdf6^{em1(IMPC)Ccpcz}	HET	Early adult	3.12×10^-06
enlarged thymus	Gdf6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal spleen morphology	Gdf6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal brain morphology	Gdf6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
hydrocephaly	Gdf6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal optic disk morphology	Gdf6^{em1(IMPC)Ccpcz}	HET	Early adult	1.12×10^-11
increased lung tissue damping	Gdf6^{em1(IMPC)Ccpcz}	HET	Early adult	2.76×10^-06
abnormal thymus morphology	Gdf6^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal digit morphology	Gdf6^{em1(IMPC)Ccpcz}	HET	Early adult	7.95×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull 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 Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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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.

Human diseases associated with Gdf6 (7 diseases)
Human diseases predicted to be associated with Gdf6 (1417 diseases)

The table below shows human diseases associated to Gdf6 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Multiple Synostoses Syndrome 4	Pes planus, Otosclerosis, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Sensorineural hearing impairment, Conductive hearing impairment, Cervic...	OMIM:118100
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation an...	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	Matching phenotypes	Source
Symphalangism, Proximal, 1A	Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:185800
Multiple Synostoses Syndrome 4	Pes planus, Otosclerosis, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp...	OMIM:184460
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Hearing abnormality, Humeroradial synostosis, Progressive fusion 2nd-5th pip j...	OMIM:186570
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Tarsal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankle, Atresia of ...	ORPHA:2010
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo...	ORPHA:3232
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ...	OMIM:128980
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	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	Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Adducted thumb, Ulnar deviation...	ORPHA:1147
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Delayed skeletal maturation, Severe con...	ORPHA:90646
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Dysplasia Epiphysealis Hemimelica	Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff...	ORPHA:1822
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Hearing impairment, Capitate-hamate fusion, Short toe, Limite...	OMIM:614078
Talonavicular Coalition	Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali...	OMIM:186750
Steel Syndrome	Carpal synostosis, Pes planus, Sensorineural hearing impairment, Hip dislocation, Coxa vara, Clin...	OMIM:615155
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal...	OMIM:612961
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal car...	ORPHA:93351
Mesomelia-Synostoses Syndrome	Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5th finger,...	ORPHA:2496
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Temtamy Preaxial Brachydactyly Syndrome	Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Short...	ORPHA:363417
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Conductive hearing impairment, Broad di...	OMIM:311300
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp...	ORPHA:3429
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Muenke Syndrome	Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Cone-...	OMIM:602849
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, ...	ORPHA:1307
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Distal Symphalangism	Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno...	ORPHA:3248
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum...	ORPHA:2741
Muenke Syndrome	Tarsal synostosis, Sensorineural hearing impairment, Cone-shaped epiphysis, Short foot, Short pal...	ORPHA:53271
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Limitation of joint mobility, Ectopic ossification in ligament tissu...	ORPHA:337
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Posteriorly rotated ears, Tarsal synostosis, Multiple pterygia...	OMIM:178110
Tarsal-Carpal Coalition Syndrome	Abnormality of the ankle, Tarsal synostosis	ORPHA:1412
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili...	ORPHA:3265
Cardiospondylocarpofacial Syndrome	Conductive hearing impairment, Brachydactyly, Synostosis of carpal bones, Short palm	ORPHA:3238
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Hearing impairment, Brachydactyly	ORPHA:35099
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy, Hearing impairment	OMIM:617717
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Meta...	ORPHA:750
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Hao-Fountain Syndrome	Hallux valgus, Large fontanelles, Low-set ears, Clinodactyly of the 5th finger, Delayed cranial s...	OMIM:616863
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capi...	OMIM:147891
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Joint stiffness, Tarsal synostosis, Posterior fusion of lumbosacral vertebrae	ORPHA:2064
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Stapes ankylosis, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Rad...	OMIM:614701
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo...	OMIM:305620
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Antec...	OMIM:618469
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis...	OMIM:185700
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal...	OMIM:271650
Waardenburg Syndrome Type 3	Camptodactyly of finger, Hearing impairment, Joint stiffness, Abnormal finger morphology, Cutaneo...	ORPHA:896
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Sensorineural hearing impairment, Cutaneous finger syn...	OMIM:148820
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Posteriorly rotated ears, Capitate-h...	OMIM:206920
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Sensorineural hearing impairment, Optic atrophy	OMIM:136600
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Hearing impairment, Elbow ...	ORPHA:3258
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Posteriorly rotated ears, Reduced bone mineral density, Delayed ossification of carpal bones, Sho...	OMIM:618392
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Progressive sensorineural hearing impairment, Optic atrophy	OMIM:165199
Multiple Epiphyseal Dysplasia Type 4	Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Abnormal foot morphology, O...	ORPHA:1657
Seckel Syndrome 7	Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Micro...	OMIM:614851
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Arthrogryposis, Distal, Type 1A	Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi...	OMIM:108120
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Joint stiffness, Abnormality of the elbow, ...	ORPHA:1005
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Vertebral fusion, Scapular winging, Short metacarpal, Bowed humerus, Epiphysea...	OMIM:272460
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Increased bone mineral density, Abnormal pinna morphology, Tarsal synos...	ORPHA:90652
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	ORPHA:2438
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Femoral bowing, Increased susceptibility to fractu...	OMIM:166200
Ceroid Lipofuscinosis, Neuronal, 9	Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy	OMIM:609055
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac...	OMIM:166220
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Rec...	OMIM:602271
Congenital Vertical Talus	Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality...	ORPHA:178382
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Hammertoe, Optic atrophy, Claw hand deformity	OMIM:618511
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Ribose 5-Phosphate Isomerase Deficiency	Optic atrophy, Increased level of ribose in CSF, Increased level of D-threitol in CSF, Decreased ...	OMIM:608611
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
49,Xyyyy Syndrome	Low-set, posteriorly rotated ears, Abnormality of the epiphyses of the elbow, Large carpal bones,...	ORPHA:99330
Winchester Syndrome	Arthropathy, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized...	OMIM:277950
Chromosome 2Q35 Duplication Syndrome	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Conductive hearing impairment, Abnormality of the wrist, Elb...	ORPHA:95699
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Bilateral single transverse palmar creases, Synostosis of carp...	ORPHA:3191
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly	OMIM:615938
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Delayed skeletal maturation, Sensorineural hearing impairment, Genu valgum, Slender l...	OMIM:608154
Symphalangism, C. S. Lewis Type	Synostosis involving the 1st metacarpal	OMIM:185650
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Tenosynovial Giant Cell Tumor	Abnormality of the knee, Abnormality of the tympanic membrane, Joint stiffness, Abnormality of th...	ORPHA:66627
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Larsen-Like Syndrome	Joint dislocation, Joint laxity, Conductive hearing impairment, Delayed skeletal maturation, Wide...	OMIM:608545
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Hearing impairment, Preaxial hand polydactyly, Short thumb, H...	ORPHA:2307
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Symphalangism Of Toes	Synostosis involving bones of the toes	OMIM:185600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Craniosynostosis And Dental Anomalies	Hallux valgus, Stapes ankylosis, Prominent metopic ridge, Broad hallux, Absent malleus, Sagittal ...	OMIM:614188
Tarsal Coalition	Tarsal synostosis	OMIM:186850
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens...	OMIM:617974
Cardiospondylocarpofacial Syndrome	Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Conductive hearing impairment, Delayed...	OMIM:157800
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Optic atrophy, Hearing impairment	OMIM:165300
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Metaphyseal widening, Delayed epiphyseal ossification, Os...	OMIM:177170
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Delayed skeletal maturation, Sensorineural h...	ORPHA:1435
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Olivopontocerebellar Atrophy-Deafness Syndrome	Ventriculomegaly, Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Chronic oti...	OMIM:101200
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo...	ORPHA:3121
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Optic Atrophy 2	Optic atrophy	OMIM:311050
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Progressive hearing impairmen...	OMIM:614296
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Overlapping toe, Optic atrophy	OMIM:618572
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C...	OMIM:601680
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact...	ORPHA:3103
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb...	OMIM:216100
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Hearing impairment, Short me...	OMIM:600383
Auriculoosteodysplasia	Attached earlobe, Elbow dislocation, Aplasia/Hypoplasia of the earlobes, Hip dysplasia, Aplasia/H...	ORPHA:114
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Larsen Syndrome	Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo...	ORPHA:503
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Flare...	OMIM:615349
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ...	OMIM:609616
Microcephalic Primordial Dwarfism, Dauber Type	Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb ...	ORPHA:319675
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia, Thrombocytopenia	OMIM:166990
Alpha-Mannosidosis	Bowing of the long bones, Delayed skeletal maturation, Macrotia, Avascular necrosis, Arthritis, H...	ORPHA:61
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Patchy reduction of bone mineral density...	ORPHA:221120
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn...	ORPHA:1802
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly	OMIM:615937
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Tarsal synostosis, Aplastic clavicle, Wide anterior fontanel, Delayed...	ORPHA:85199
Abruzzo-Erickson Syndrome	Radioulnar synostosis, Macrotia, Hearing impairment, Protruding ear	OMIM:302905
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene...	ORPHA:93360
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Optic atrophy, Camptodactyly of finger, Ventriculomegaly, Flexion contracture of toe	OMIM:619323
Developmental And Epileptic Encephalopathy 36	Hepatomegaly, Hydrocephalus, Optic atrophy, Small hand	OMIM:300884
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G...	OMIM:250420
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Abnormality of the ear, Cox...	ORPHA:457395
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Joint stiffness, Abnormal hip bone morphology, Synost...	ORPHA:1323
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Desbuquois Syndrome	Low-set, posteriorly rotated ears, Genu recurvatum, Camptodactyly of finger, Coxa valga, Elbow di...	ORPHA:1425
Schinzel-Giedion Syndrome	Abnormality of the stapes, Overlapping toe, Wide anterior fontanel, Hypoplastic pubic bone, Abnor...	ORPHA:798
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Hearing abnormality, Ab...	ORPHA:2511
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly, Optic atrophy	OMIM:611721
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Congenital Disorder Of Glycosylation, Type Iaa	Attenuation of retinal blood vessels, Optic disc pallor, Intrauterine growth retardation, Failure...	OMIM:617082
Congenital Toxoplasmosis	Hepatomegaly, Abnormality of retinal pigmentation, Ventriculomegaly, Cardiomegaly, Thrombocytopen...	ORPHA:858
Char Syndrome	Clinodactyly of the 5th finger, Low-set ears, Distal/middle symphalangism of 5th finger, Protrudi...	OMIM:169100
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Sensorineural hearing impairment, Optic atrophy	OMIM:620086
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Equinovarus deformity,...	ORPHA:3078
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly, Apnea, Syndactyly	OMIM:617767
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Larg...	OMIM:271640
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventriculomegaly, Splenomegaly, Postaxial hand polydactyly, Hydrocephalus, Cholesta...	OMIM:615630
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Respiratory insufficie...	OMIM:610333
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Pes planus, Coxa valga, Accelerated skeletal maturation, Advanced ossification o...	OMIM:618363
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Lethal Osteosclerotic Bone Dysplasia	Low-set ears, Large fontanelles, Posteriorly rotated ears, Delayed cranial suture closure	ORPHA:1832
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Retinal dysplasia, Ventriculomegaly	OMIM:614830
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Wrist swelling, Osteolysis involving tar...	OMIM:166300
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Hypoplasia of the uln...	OMIM:218600
Mullegama-Klein-Martinez Syndrome	Pes planus, Sensorineural hearing impairment, Absent stapes, Microtia, Polydactyly, Atresia of th...	OMIM:301022
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Hearing impairment, Attenuation of retinal blood vessels	OMIM:614504
Merrf	Sensorineural hearing impairment, Optic atrophy, Short stature	ORPHA:551
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Abnormal foot morphology, Delayed skeletal ...	OMIM:184252
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5t...	OMIM:274000
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy	OMIM:614706
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Hearing impairment, Preaxial hand polydactyly, Short toe, P...	ORPHA:2750
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad...	ORPHA:2249
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Limited knee extension, W...	ORPHA:239
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Hypoplastic pubic bone, Flared me...	ORPHA:93346
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,...	OMIM:251450
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Wolfram-Like Syndrome	Peripheral axonal neuropathy, Abnormal pinna morphology, Congenital sensorineural hearing impairm...	ORPHA:411590
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Dyspnea, Abnormal macular m...	OMIM:607616
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction, Bilateral sensorineural hearing impairment, Progres...	OMIM:124950
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Elbow flexion contracture, Hydrocephalus, Optic atrophy	OMIM:619470
Treacher Collins Syndrome 2	Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia	OMIM:613717
Combined Oxidative Phosphorylation Deficiency 51	Severe short stature, Small for gestational age, Optic atrophy, Growth delay, Intrauterine growth...	OMIM:619057
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Abnormal pinna...	ORPHA:93333
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn...	ORPHA:1225
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
17Q24.2 Microdeletion Syndrome	Otosclerosis, Upper limb undergrowth, Microtia, Recurrent otitis media, Abnormality of the ankle,...	ORPHA:529962
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy, Flexion contracture of toe	ORPHA:320396
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy, Hearing impairment	ORPHA:1186
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Delayed...	OMIM:616723
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micr...	ORPHA:1597
Autosomal Recessive Robinow Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilat...	ORPHA:1507
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Respiratory insufficiency	ORPHA:139406
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Diencephalic Syndrome	Large hands, Optic atrophy, Hydrocephalus	ORPHA:1672
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Low-set, posteriorly rotated ears, Fifth finger distal phalanx clinodactyly, Metopic suture paten...	ORPHA:3369
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Hydrocep...	OMIM:259710
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Sensorineural hearing impairment, R...	OMIM:194350
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ...	ORPHA:40366
Lamb-Shaffer Syndrome	Overlapping toe, Long fingers, Optic atrophy, Clinodactyly, Long hallux	OMIM:616803
Mitochondrial Complex I Deficiency, Nuclear Type 15	Optic atrophy, Neonatal death, Intrauterine growth retardation, Failure to thrive, Hearing impair...	OMIM:618237
Otosclerosis 10	Otosclerosis	OMIM:615589
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricul...	ORPHA:51608
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal c...	ORPHA:163966
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ...	OMIM:611717
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Short middle phalanx of the 2nd finger, Partial duplication of thumb pha...	OMIM:617926
Striatonigral Degeneration, Infantile	Failure to thrive, Optic atrophy	OMIM:271930
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Ceroid Lipofuscinosis, Neuronal, 3	Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degenera...	OMIM:204200
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wormian bones, Camptodactyly of finger, Low-set ears, Brachydactyly	ORPHA:2863
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Sandhoff Disease	Splenomegaly, Cherry red spot of the macula, Hepatomegaly	ORPHA:796
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Larsen Syndrome	Joint laxity, Vertebral fusion, Short metacarpal, Spatulate thumbs, Elbow dislocation, Talipes eq...	OMIM:150250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Multiple joint dislocation, Hip...	OMIM:618395
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Chondrodysplasia, Blomstrand Type	Micromelia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared iliac bones, Fla...	OMIM:215045
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat...	OMIM:620269
Sclerosteosis	Finger syndactyly, Facial palsy, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of...	ORPHA:3152
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul...	OMIM:228000
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Retinopathy	ORPHA:26
Congenital Hydrocephalus	Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Ventriculomegaly	ORPHA:2185
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Facial palsy, Hydrocephalus, Optic atrophy, Genu valgum, Abnormal ...	ORPHA:53
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Posteriorly rotated ears,...	OMIM:614541
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars...	OMIM:615222
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hearing impairment...	OMIM:620099
Immunodeficiency 104	Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Hyperextensibility at elbow, Rec...	OMIM:610967
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Optic atrophy...	OMIM:311070
Parietal Foramina With Cleidocranial Dysplasia	Microtia, Short clavicles, Widely patent fontanelles and sutures	OMIM:168550
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Ventriculomegaly	ORPHA:324416
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Optic atrophy, Hearing impairment	OMIM:309555
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Tapered finger, C...	ORPHA:949
Three M Syndrome 3	Protruding ear, Slender long bone, Hip dysplasia, Clinodactyly of the 5th finger, Prominent calca...	OMIM:614205
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Accelerated skeletal ma...	OMIM:175700
Meckel Syndrome, Type 3	Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Postaxial hand p...	OMIM:607361
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus	ORPHA:250994
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia	OMIM:615085
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Deafness, Dystonia, And Cerebral Hypomyelination	Intrauterine growth retardation, Sensorineural hearing impairment, Failure to thrive, Optic atrophy	OMIM:300475
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Osteoporosis,...	OMIM:184260
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Vacuolated lymphocytes, Optic atrophy, Retinal degeneration	OMIM:256730
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor...	OMIM:225500
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Optic atrophy, Hydrocephalus	ORPHA:1528
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly, Optic atrophy	OMIM:300928
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Broad hallux phalanx, Splenomegaly, Hydrocepha...	ORPHA:585
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Fried Syndrome	Hydrocephalus, Abnormal optic nerve morphology	ORPHA:85335
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio...	OMIM:613320
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Phaver Syndrome	Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Short t...	ORPHA:2876
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Rhizomelia, Recurrent fractures, Conduct...	OMIM:616229
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Prelingual sensorineural hearing impairment	OMIM:618632
Pontocerebellar Hypoplasia, Type 1E	Elbow flexion contracture, Respiratory failure requiring assisted ventilation, Optic atrophy	OMIM:619303
Multiple Sulfatase Deficiency	Hepatomegaly, Ventriculomegaly, Broad hallux, Splenomegaly, Hydrocephalus, Broad thumb, Increased...	OMIM:272200
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo...	ORPHA:565
Roifman Syndrome	Hepatomegaly, Short metacarpal, Hip contracture, Retinal dystrophy, Eosinophilia, Single transver...	OMIM:616651
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno...	ORPHA:85438
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Abnormal metaphysis morphology	ORPHA:417
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Masa Syndrome	Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb	OMIM:303350
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Craniodiaphyseal Dysplasia	Conductive hearing impairment, Optic atrophy, Short stature	ORPHA:1513
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Solitary Bone Cyst	Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Pathologic fracture, Proxim...	ORPHA:83468
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum,...	OMIM:269300
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Conductive hearing impairment, Low-set ears, Wormian bones, Clinodactyl...	OMIM:617808
Spinocerebellar Ataxia, Autosomal Recessive 12	Growth delay, Optic atrophy, Retinal degeneration	OMIM:614322
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Femur fracture, Facial palsy, Thrombocytopenia, Splenomegaly, Hydroce...	OMIM:259700
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Simple ear, Flared metap...	OMIM:602471
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Sandal gap, Lower limb asymmetry, Delayed skeletal maturation,...	ORPHA:813
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem...	OMIM:611490
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchi...	OMIM:613490
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce...	OMIM:613330
Cardiac-Valvular Ehlers-Danlos Syndrome	Joint dislocation, Hallux valgus, Pes planus, Genu recurvatum, Sandal gap, Recurrent shoulder dis...	ORPHA:230851
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Ascites, Metaphy...	OMIM:269920
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, P...	OMIM:613849
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Hydrocephalus, Optic atrophy, Retinal dysplasia, Ventriculomegaly	ORPHA:272
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Craniosynostosis, Tarsal synostosis, Conductive hearing impai...	OMIM:201750
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy, Ventriculomegaly	OMIM:620314
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Symphalangism of the 5th ...	ORPHA:46627
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan...	OMIM:277590
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Wormian bones, Metaphyseal widening, Flexion contracture, Delayed skeletal maturation, Broad palm...	OMIM:300232
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Conductive hearing impairment, Osteoporosis, Osteolytic defects of the ...	OMIM:102500
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of...	ORPHA:2969
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, CSF pleocytosis, Increased CSF interferon alpha, Th...	OMIM:615010
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Wrist swelling, Limitation of joint mobility, Osteolysis, Slender long b...	ORPHA:2774
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Genu valgum, Abnormal pelvic gir...	ORPHA:289
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Optic atrophy, Respiratory insufficiency, Epiphyseal stippling, ...	ORPHA:1914
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy, Bilateral talipes equinovarus	OMIM:618174
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
X-Linked Spinocerebellar Ataxia Type 3	Sensorineural hearing impairment, Optic atrophy	ORPHA:85297
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, Protruding ear, Clinodactyly of the 5th f...	OMIM:268305
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Rec...	ORPHA:83
Krabbe Disease	Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, I...	OMIM:245200
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Talipes equinovarus, Optic atrophy, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Hip dislocation, Protruding ear, Talipes equinovarus, Low-set ears, Wor...	OMIM:616603
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc...	ORPHA:99947
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones...	ORPHA:166277
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi...	ORPHA:794
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Prominent fingertip pads, Splenomegaly, Recurrent pneumonia, Clinodactyly of the 5t...	OMIM:615637
Edinburgh Malformation Syndrome	Jaundice, Hydrocephalus	OMIM:129850
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia	OMIM:619302
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis...	OMIM:212780
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Classical-Like Ehlers-Danlos Syndrome Type 2	Joint dislocation, Hallux valgus, Osteopenia, Pes planus, Arachnodactyly, Sandal gap, Phalangeal ...	ORPHA:536532
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Small for gestational age, Short stature, Optic atrophy, Large earlobe, Decreased body weight, In...	OMIM:618346
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy, Intrauterine growth retardation	OMIM:618776
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Pneumonia, Splenomegaly	OMIM:269840
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Hypopl...	OMIM:300863
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom...	OMIM:615631
Coach Syndrome 2	Congenital hepatic fibrosis, Hydrocephalus, Apneic episodes in infancy, Portal fibrosis, Hepatic ...	OMIM:619111
Salt And Pepper Developmental Regression Syndrome	Failure to thrive, Optic atrophy, Hearing impairment	OMIM:609056
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased body weight, Optic atrophy, Short stature, Delayed puberty	ORPHA:477814
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thro...	OMIM:610539
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Delayed skeletal maturation, Hip dislocation, L...	OMIM:219150
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Mohr Syndrome	Syndactyly, Wormian bones, Preaxial hand polydactyly, Postaxial hand polydactyly, Conductive hear...	OMIM:252100
Grant Syndrome	Joint dislocation, Bowing of the long bones, Large fontanelles, Decreased skull ossification, Joi...	ORPHA:2097
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Short stature, Optic atrophy, Facial diplegia, Hearing impairment	OMIM:122860
Seizures, Cortical Blindness, And Microcephaly Syndrome	Growth delay, Optic atrophy, Short stature	OMIM:616632
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Hepatomegaly, Splenomegaly, Optic atrophy, Upper limb undergrowth, Small ha...	OMIM:608799
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality...	OMIM:300476
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Kleeblattschaedel	Hydrocephalus, Elbow ankylosis	OMIM:148800
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Failure to thrive, Optic atrophy	OMIM:274270
Lessel-Kreienkamp Syndrome	Wide cranial sutures, Clinodactyly of the 5th finger, Hypoplastic helices, Overfolded helix, Hear...	OMIM:619149
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Infantile Cerebellar-Retinal Degeneration	Retinal dystrophy, Sensorineural hearing impairment, Optic atrophy, Decreased body weight, Failur...	OMIM:614559
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Calcaneovalgus deformity, Adducted thumb, Flexion contracture, Talipes equinovaru...	ORPHA:562528
Anauxetic Dysplasia 1	Joint laxity, Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow ...	OMIM:607095
Mitochondrial Complex I Deficiency, Nuclear Type 8	Optic disc pallor, Pancreatitis, Respiratory insufficiency, Increased CSF lactate	OMIM:618230
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Three M Syndrome 2	Scapular winging, Delayed skeletal maturation, Protruding ear, Slender long bone, Short 5th finge...	OMIM:612921
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Optic atrophy, Respiratory insufficiency, Abnormal metacarpal morphology, Brachyda...	ORPHA:93262
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Desbuquois Dysplasia 2	Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short phalanx of finger,...	OMIM:615777
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Abnormality of the knee, Broad hallux, Slender finger, Generalized joint laxity, Smal...	ORPHA:251028
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Facial palsy, Hearing impairment	ORPHA:178377
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Unde...	ORPHA:50815
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Tibi...	OMIM:143095
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Joint laxity, Pes planus, Calcaneovalgus deformity, Genu recurvatum	OMIM:225320
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Clubbing, Bronchi...	OMIM:612387
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Polydactyly, Leukemia, Ventriculomegaly	OMIM:602501
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Optic Atrophy 6	Optic atrophy	OMIM:258500
Branchiogenic-Deafness Syndrome	Mixed hearing impairment, Abnormality of the middle ear ossicles, Abnormal foot morphology, Senso...	OMIM:609166
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Nephronophthisis 18	Hydrocephalus, Portal fibrosis, Retinitis, Cholestasis	OMIM:615862
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Talipes, Absent thumb, Aplasia/Hypoplasia of the distal phalan...	ORPHA:1234
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Femur fracture, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Optic atrophy, La...	OMIM:612301
Weiss-Kruszka Syndrome	Prominent metopic ridge, Single transverse palmar crease, Proximal placement of thumb, Hearing im...	OMIM:618619
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ...	ORPHA:50945
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr...	ORPHA:158029
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Optic atrophy	OMIM:615191
Potocki-Shaffer Syndrome	Wormian bones, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly	OMIM:601224
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Asplenia, Wheezing, Hydrocephalus, Clubbing, Bro...	ORPHA:244
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Sensorineural hearing impairment, Radioulnar synostosis, Short middle phalanx of the 4th finger, ...	OMIM:616738
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Neutropenia, Pancreatiti...	ORPHA:79312
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Pes planus, Pelvic bone exostos...	OMIM:304150
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Abnormal pattern of respiration	ORPHA:77260
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Posteriorly rotated ears, Decreased fibular diameter, ...	OMIM:616897
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased CSF lactate, Hypoglycorrhachia	OMIM:612126
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti...	OMIM:610968
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Limited knee flexion, Calcaneovalgus deformit...	OMIM:615065
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventriculomegaly, Postaxial polydactyly, Splenomegaly, Hydrocephalus,...	OMIM:614576
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Coxa valga, Wide anterior fontanel, Abnormality of the elbow, Fla...	ORPHA:163649
Axial Spondylometaphyseal Dysplasia	Osteopenia, Iliac crest serration, Proximal femoral metaphyseal irregularity, Upper limb undergro...	ORPHA:168549
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Hydrocephalus, Optic atrophy, Hepatosplenomegaly, Yellow/w...	ORPHA:93400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Left ventricular ...	OMIM:613153
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Sensorineural hearing i...	OMIM:605432
Immunodeficiency 27A	Abnormal bronchus physiology, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocytos...	OMIM:209950
Lateral Meningocele Syndrome	Prominent metopic ridge, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Conduc...	ORPHA:2789
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Abnormal cerebrospinal fluid morphology, Wrist swelling, ...	ORPHA:448237
Cleidocranial Dysplasia	Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Chronic otitis media, Decre...	ORPHA:1452
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Ane...	OMIM:230800
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus deformity, Bilateral sensor...	ORPHA:521445
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop...	OMIM:619164
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Pontocerebellar Hypoplasia, Type 3	Optic disc pallor, Short stature, Optic atrophy, Low-set ears, Decreased body weight, Macrotia, H...	OMIM:608027
Optic Pathway Glioma	Papilledema, Hydrocephalus, Neurofibroma, Optic atrophy	ORPHA:2086
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Posteriorly rotated ears, Metatarsus adductus, Macrotia, Calcaneovalgus deformity...	OMIM:612513
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Postaxial hand polydactyly, Hydrocephalus, Chorioretinal atrophy, Dandy...	OMIM:220220
Luscan-Lumish Syndrome	Recurrent otitis media, Long foot, Advanced ossification of carpal bones	OMIM:616831
Humeroradial Synostosis	Small earlobe, Humeroradial synostosis, Microtia	OMIM:236400
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ...	ORPHA:1788
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:397951
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Abnormal foot morphology...	OMIM:601390
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Sensorineural hearing impairment, Right unilamb...	OMIM:616602
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity, Arthrogryposis m...	OMIM:162370
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Asthma, Split hand,...	OMIM:309900
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Flared metaphysis, Slender long bone, Hypoplastic spleen, Ascites, Brach...	OMIM:602361
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to...	OMIM:259410
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow...	OMIM:609220
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia...	ORPHA:2839
Melnick-Needles Syndrome	Bowing of the long bones, Hearing impairment, Coxa valga, Hip dislocation, Cone-shaped epiphyses ...	ORPHA:2484
Griscelli Syndrome	Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocephalus, H...	ORPHA:381
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy, Short stature	OMIM:619052
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Leukodystrophy, Hypomyelinating, 21	Growth delay, Failure to thrive, Optic atrophy	OMIM:619310
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Optic atrophy, Deviation of finger, Bilateral talipes equinovarus, Congenital fin...	ORPHA:1154
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia	ORPHA:721
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Dyspnea, Ascites, Abnormal macular morphology	ORPHA:87876
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Wide anterior fontanel, Ulnar bowi...	OMIM:207410
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Acalvaria	Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida	ORPHA:945
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Wormian bones, Short 4th met...	OMIM:619638
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Hip contracture, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion contracture, Knee f...	OMIM:616266
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Apnea, Optic atrophy, Respiratory insufficiency, Left ventricular hypertrophy,...	OMIM:618228
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Splenomegaly, Respiratory insufficiency, Ascites, Anemia	ORPHA:1046
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Ventri...	OMIM:259720
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur...	ORPHA:545
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Small earlobe, Elbow dislocation, Irregular femoral epiphysis, Patellar ...	OMIM:613805
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the midd...	OMIM:151050
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hydrocephalus, Optic atrophy, Hand polydactyly, Foot polydacty...	ORPHA:60040
Leber Congenital Amaurosis 14	Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Woods Syndrome	Single transverse palmar crease, Supernumerary nipple, 3-4 finger cutaneous syndactyly, Optic atr...	OMIM:615236
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentra...	OMIM:616034
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Posteriorly rotated ears, Conductive hearing impairment, Large fo...	ORPHA:2780
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Optic disc pallor, Ventriculomegaly, Hepatomegaly	OMIM:613730
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Osteopenia, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin...	ORPHA:371428
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Overfolding of the superior helices, Hypoplastic ischia, Bowing of the legs, Abnormal...	ORPHA:313855
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Cupped ear, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, S...	OMIM:617159
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, ...	OMIM:276820
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus...	ORPHA:2771
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Sensorineural hearing impairment, Optic atrophy	OMIM:612989
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hydrocephalus, H...	OMIM:241800
Pycnodysostosis	Joint laxity, Persistent open anterior fontanelle, Increased bone mineral density, Rhizomelia, Lo...	ORPHA:763
Osteogenesis Imperfecta, Type Xxi	Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Pes val...	OMIM:619131
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Joint dislocation, Osteopenia, Genu recurvatum, Single transverse palmar crease, Accelerated skel...	OMIM:130070
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Chorioretinal co...	ORPHA:163961
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Optic atrophy, Obesity, Hearing impairment	OMIM:614651
Grant Syndrome	Wormian bones, Down-sloping shoulders, Tibial bowing	OMIM:138930
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,...	OMIM:614613
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Occipital encephalocele, Apnea, Portal hypertension, Congenital hepatic fibrosis, S...	ORPHA:1454
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Equinovarus deformity, Metaphyseal wideni...	OMIM:224400
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d...	OMIM:605274
Babesiosis	Hemolytic anemia, Hepatomegaly, Clinodactyly of the 5th toe, Splenomegaly, Jaundice, Respiratory ...	ORPHA:108
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim...	OMIM:259440
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Abnormal retinal morphology, Facial palsy, Hand muscle weakness, Abnormal cereb...	ORPHA:254886
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Large fontanelles, Protruding e...	OMIM:612940
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Adams-Oliver Syndrome 2	Single transverse palmar crease, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Abse...	OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Retinal dystrophy, Facial palsy	OMIM:613155
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc...	ORPHA:15
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic bridging fibrosis	OMIM:616719
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Ulnar deviation of the h...	OMIM:615546
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel...	OMIM:620282
Wildervanck Syndrome	Pseudopapilledema, Hearing impairment	OMIM:314600
Temple Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Hydrocephalus, Small hand,...	ORPHA:254516
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Leber Optic Atrophy And Dystonia	Optic atrophy, Leber optic atrophy, Increased CSF lactate	OMIM:500001
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Intrauterine growth retardation, Failure to thrive, Optic atrophy, Hearing impairment	ORPHA:369939
Gomez-Lopez-Hernandez Syndrome	Posteriorly rotated ears, Craniosynostosis, Wide anterior fontanel, Low-set ears, Wormian bones	OMIM:601853
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Aganglionic megacolon, Ventriculomegaly, Dislocated radial head	OMIM:304100
Cinca Syndrome	Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Clinodactyly, Ventriculomegaly	OMIM:618577
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Sensorineural hearing impairment, Conductive hearing impairment, Cervic...	OMIM:118100
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5t...	ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Ventriculomegaly	OMIM:613151
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Recurrent sinusitis,...	OMIM:613101
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Abnormality of the tonsils, Splenomegaly, Hydrocephalus, Split hand, Optic atro...	ORPHA:579
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Spina bifida o...	OMIM:201000
Lateral Meningocele Syndrome	Vertebral fusion, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Conductive he...	OMIM:130720
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Jaundice, Anemia, Abnormal metap...	ORPHA:290
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Qazi-Markouizos Syndrome	Dysharmonic bone age, Delayed ossification of carpal bones, Tapered finger	ORPHA:3010
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Portal hypertension, Congenital hepatic fibrosis...	ORPHA:974
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Optic atrophy, Anemia, Neutropenia, Pancreatitis, Thrombocyto...	ORPHA:289916
Oculodentodigital Dysplasia, Autosomal Recessive	Wide cranial sutures, Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger synd...	OMIM:257850
Infantile Refsum Disease	Short stature, Facial palsy, Rod-cone dystrophy, Sensorineural hearing impairment, Optic atrophy,...	ORPHA:772
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
X-Linked Sideroblastic Anemia	Dyspnea, Splenomegaly, Anemia	ORPHA:75563
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Aqueductal stenosis, Splenomegaly, Abnormal fibula morph...	ORPHA:3035
Glaucoma 3, Primary Congenital, E	Increased cup-to-disc ratio	OMIM:617272
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Coxa valga, Hydrocephalus, Optic atrophy, Hammertoe, Hip dysplasia, Colpoceph...	OMIM:619833
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydrocephalus	ORPHA:251046
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed skeletal maturation, Small hand, Shor...	ORPHA:93324
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short metacarpal, Bull's eye ma...	OMIM:216550
Walker-Warburg Syndrome	Retinal detachment, Ventriculomegaly, Retinal dystrophy, Chorioretinal dysplasia, Cryptorchidism,...	ORPHA:899
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Camptodactyly of finger, Sensorineural hearing impairment, Flexion contracture, Lim...	ORPHA:217085
Distal Monosomy 7Q36	Cryptorchidism, Optic atrophy, Symphalangism affecting the phalanges of the hand, Holoprosencepha...	ORPHA:1636
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thromboc...	OMIM:249270
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Metatarsus adductus, Conductive hearing impairment, Delayed skeletal matura...	OMIM:611962
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Lateral ventricle dilatat...	OMIM:613154
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Posteriorly rotated ears, Hearing impairment, Tapered finger, Short toe, Sensorineural hearing im...	OMIM:239300
Optic Atrophy 11	Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Facial diplegia, Bilateral talipes equinovar...	OMIM:617302
Triple A Syndrome	Optic atrophy, Respiratory insufficiency, Palmoplantar keratoderma, Abnormality of the hypothenar...	ORPHA:869
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Respiratory insufficiency, Leuk...	ORPHA:27
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Flexion con...	OMIM:609033
Opsismodysplasia	Hepatomegaly, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplastic pubic bone, Respirat...	ORPHA:2746
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys...	OMIM:598500
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Cardiomegaly	OMIM:300886
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr...	OMIM:610442
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Camptodactyly of finger, Sensorineural hearing impairment, Flexion contracture, Lim...	ORPHA:217093
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Sensorineural heari...	ORPHA:95716
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Respiratory insufficiency, Hip d...	ORPHA:2655
Leigh Syndrome	Optic atrophy, Respiratory insufficiency, Hepatocellular necrosis, Increased CSF lactate, Pigment...	OMIM:256000
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Hydroc...	ORPHA:85284
Nasu-Hakola Disease	Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly, Acute leukemia	ORPHA:2770
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Overlapping toe, Delayed skeletal maturation, Flexion contracture, Low-set ears, Overlapping fing...	OMIM:619383
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly,...	ORPHA:1451
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Thanatophoric Dysplasia Type 2	Encephalocele, Micromelia, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Abnormal ...	ORPHA:93274
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Autosomal Recessive Cutis Laxa Type 2A	Pes planus, Persistent open anterior fontanelle, Congenital hip dislocation, Joint hypermobility,...	ORPHA:357058
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93259
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade...	OMIM:240500
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Arachnodactyly...	OMIM:310400
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hip dislocation, Joint sublux...	OMIM:617821
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Sensorineural hearing ...	OMIM:268315
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Rhinitis, Abnormal nerve conduction velocity	ORPHA:93476
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Respiratory insufficiency, Re...	OMIM:276950
Adams-Oliver Syndrome 6	Syndactyly, Portal hypertension, Splenomegaly, Hepatic fibrosis, Foot oligodactyly, Brachydactyly	OMIM:616589
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb	OMIM:307000
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Mucopolysaccharidosis Type 2	Otosclerosis, Conductive hearing impairment, Sensorineural hearing impairment, Limitation of join...	ORPHA:580
Hypothyroidism, Congenital, Nongoitrous, 6	Wormian bones, Delayed skeletal maturation, Congenital hip dislocation	OMIM:614450
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Edinburgh Malformation Syndrome	Long fingers, Hydrocephalus, Respiratory insufficiency, Ulnar deviation of finger, Slender finger	ORPHA:1895
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Respiratory insufficiency, Adrenocorticotropic hormone excess, Lympha...	OMIM:609981
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, ...	OMIM:309350
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Macular atrophy, Productive cough, Bronchiectasis, Decreased nasal nitric oxid...	OMIM:615434
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary...	ORPHA:2414
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndactyly, Microtia, Metat...	OMIM:107480
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Overlapping toe, Single transverse palmar crease, Tapered finger, Optic atrophy, Hip dysplasia, B...	OMIM:617807
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ...	OMIM:611134
Lissencephaly 8	Occipital encephalocele, Optic atrophy, Talipes equinovarus, Ventriculomegaly	OMIM:617255
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra...	OMIM:300106
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, Polydactyly, Comp...	ORPHA:59315
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Optic atrophy, Supernumerary...	ORPHA:1173
Craniosynostosis 2	Craniosynostosis, Unicoronal synostosis, Metopic synostosis, Triphalangeal thumb, Wormian bones, ...	OMIM:604757
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydacty...	OMIM:617866
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Shoulder dislocation, Arachnodactyly, Hydrocephalus, Adducted thumb	ORPHA:2181
Dpm1-Cdg	Hepatic steatosis, Hepatomegaly, Sandal gap, Optic atrophy, Hepatosplenomegaly, Hepatic fibrosis,...	ORPHA:79322
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Splenomegaly, Respiratory insufficiency, H...	ORPHA:773
X-Linked Intellectual Disability, Najm Type	Failure to thrive, Optic nerve hypoplasia, Sensorineural hearing impairment, Optic atrophy, Chori...	ORPHA:163937
Neonatal Lupus Erythematosus	Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Hy...	ORPHA:398124
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Retinal dystrophy, Apnea, Hydrocephalus, Tachypnea, Hand po...	ORPHA:2318
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly, Hepatosplenomegaly	ORPHA:466934
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys...	OMIM:256550
Robinow Syndrome, Autosomal Recessive 1	Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Joint laxity, Vert...	OMIM:268310
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size	ORPHA:649929
46,Xy Sex Reversal 4	Recurrent otitis media, Sensorineural hearing impairment, Distal symphalangism, Microtia	OMIM:154230
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Ogden Syndrome	Low-set ears, Macrotia, Broad hallux, Delayed cranial suture closure	ORPHA:276432
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Hurler Syndrome	Hepatomegaly, Hypoplasia of the femoral head, Coxa valga, Splenomegaly, Metaphyseal widening, Hyd...	OMIM:607014
Muckle-Wells Syndrome	Hepatomegaly, Camptodactyly of finger, Splenomegaly, Optic atrophy, Restrictive ventilatory defec...	ORPHA:575
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation an...	ORPHA:2345
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo...	OMIM:602200
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon, Adducted thumb	ORPHA:275543
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, Lymphaden...	OMIM:150550
Mucolipidosis Ii Alpha/Beta	Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Limitation...	OMIM:252500
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Apnea, Proximal femoral metaphyseal irregularity, Subretinal deposits, T...	ORPHA:397715
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Optic atrophy, Anencepha...	ORPHA:1590
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Hy...	ORPHA:370959
Stt3B-Cdg	Respiratory distress, Cryptorchidism, Optic atrophy, Thrombocytopenia	ORPHA:370924
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hearing impairment, Flexion contracture, Limitation of joint mobility, Osteolysis, Large fontanel...	ORPHA:90153
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Cryptorchidism, Hydrocephalus, Radioulnar synostosis, S...	ORPHA:171839
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ...	ORPHA:397596
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Clinodactyly of the 5th finger, Hydrocephalus	ORPHA:1516
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ...	ORPHA:99646
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal dystrophy, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Hydrocephalus-Obesity-Hypogonadism Syndrome	Cubitus valgus, Hydrocephalus, Short 4th metacarpal	ORPHA:2183
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Chorioretinal coloboma	ORPHA:1473
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Tibial bowing, Femoral bowing, C...	OMIM:304120
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Hydrocephalus, Bone marrow hypocellularity, Anemia	OMIM:617244
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o...	OMIM:166210
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Allergic rhinitis, Asthma, Hydrocephalus, 2-3 toe synda...	OMIM:618162
Meckel Syndrome	Accessory spleen, Encephalocele, Bowing of the long bones, Abnormal chorioretinal morphology, Pan...	ORPHA:564
Marinesco-Sjögren Syndrome	Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp...	ORPHA:559
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism, Optic atrophy, Thrombocytopenia	OMIM:615597
Greenberg Dysplasia	Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli...	OMIM:215140
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthropathy, Osteopenia, Limitation of joint mobility, Clubbing, Osteoporosis, Osteolytic defects...	OMIM:259100
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t...	ORPHA:2911
B4Galt1-Cdg	Splenomegaly, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Coxa valga, Short tubular bones of the hand, Abnormal...	ORPHA:85184
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp...	OMIM:618495
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Postaxial hand polydactyly, Hydrocephalus	ORPHA:83473
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Hydrocephalus, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra...	OMIM:619260
Hec Syndrome	Abnormal retinal vascular morphology, Communicating hydrocephalus, Vaginal hydrocele, Respiratory...	ORPHA:2119
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Retinal dystrophy, Apnea, Hydrocephalus, Hand polydactyly, ...	ORPHA:220493
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne...	OMIM:620296
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, ...	OMIM:615122
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ...	ORPHA:95717
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb	ORPHA:2182
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Abnormal retinal morphology, Pneumonia, Mediastinal lymp...	ORPHA:1546
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Hypoplastic scapulae, Bowing of the legs, Splenomegaly, Short toe, Hydrocephalus, A...	OMIM:269860
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Hydrocephalus, Abnormality of the liver, Increased m...	ORPHA:2169
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:391
Mirage Syndrome	Rocker bottom foot, Cryptorchidism, Radial club hand, Hydrocephalus, Anemia, Leukopenia, Talipes ...	OMIM:617053
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Respiratory failure, Increased CSF lactate	OMIM:618240
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Increased CSF lactate, Aspiratio...	OMIM:618253
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Respiratory insufficiency	ORPHA:207
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Cryptorchidism, Hydrocephalus, Neonatal epiphyseal stippling, Op...	OMIM:101800
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Coach Syndrome 1	Encephalocele, Optic disc pallor, Hepatomegaly, Occipital encephalocele, Portal hypertension, Abn...	OMIM:216360
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Single transverse palmar crease, Supernumerary nipple, Rocker bottom f...	OMIM:619951
Hurler Syndrome	Hepatomegaly, Abnormality of the tonsils, Camptodactyly of finger, Splenomegaly, Hydrocephalus, A...	ORPHA:93473
Silver-Russell Syndrome 1	Syndactyly, Abnormal foot morphology, Delayed skeletal maturation, Short distal phalanx of the 5t...	OMIM:180860
Combined Oxidative Phosphorylation Deficiency 29	Increased CSF protein concentration, Optic neuropathy, Axonal degeneration, Optic atrophy, Increa...	OMIM:616811
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, ...	OMIM:601812
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Coxa valga, Splenomegaly, Optic atrophy, Sea-blue histiocytosis, Limb undergrowth, ...	OMIM:230600
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Hand polydactyly, Optic atrophy, Respiratory insufficiency	ORPHA:2971
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ...	OMIM:617425
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormality of neutrophils, Hydrocephalus, Ocular albinism, Abnormal hip bone mor...	ORPHA:2720
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Delayed cranial suture closure, Metatarsus adductus, Wide a...	OMIM:249420
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger, V...	OMIM:616362
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Epista...	ORPHA:464329
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Thymus hyperplasia, Arachnodactyly, Chylothorax, Talipes equinovarus	OMIM:619036
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral r...	OMIM:610682
Ring Chromosome 12 Syndrome	Syndactyly, Abnormal 5th finger morphology, Microtia, Symphalangism of the thumb, Low-set ears, C...	ORPHA:1439
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Aymé-Gripp Syndrome	Prominent metopic ridge, Posteriorly rotated ears, Rocker bottom foot, Craniosynostosis, Tapered ...	ORPHA:1272
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus, Abnormality of the elbow, Brachydactyly	ORPHA:2701
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Pleural effusion, Talipes...	OMIM:617822
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism...	ORPHA:1865
47,Xyy Syndrome	Macroorchidism, Cryptorchidism, Increased circulating gonadotropin level, Asthma, Hydrocephalus, ...	ORPHA:8
Alg8-Cdg	Ventriculomegaly, Optic atrophy, Anemia, Talipes equinovarus, Camptodactyly, Ascites, Retinopathy...	ORPHA:79325
Joubert Syndrome 8	Optic disc pallor, Hepatomegaly, Occipital encephalocele, Pigmentary retinopathy, Prolonged neona...	OMIM:612291
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short 5th metacarpal	ORPHA:66518
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Madras Motor Neuron Disease	Sensorineural hearing impairment, Optic atrophy, Facial palsy, Tinnitus	ORPHA:137867
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re...	ORPHA:1215
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor...	OMIM:615219
Temple Syndrome	Cryptorchidism, Hydrocephalus, Small hand, Short foot, Clinodactyly, Decreased testicular size	OMIM:616222
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Posteriorly rotated ears, Preaxial hand polydactyly, Lar...	ORPHA:2211
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencepha...	OMIM:612284
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Hypopl...	OMIM:187600
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Cdags Syndrome	Sagittal craniosynostosis, Sensorineural hearing impairment, Large fontanelles, Short clavicles, ...	OMIM:603116
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Dela...	OMIM:271510
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr...	OMIM:616084
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Craniosynostosis, Osteoporosis, Widely patent corona...	ORPHA:2409
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Aplastic anemia, Optic disc hypoplasia, Absent thumb, Hydrocephalus, Bilateral ...	OMIM:300514
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Abnormal tibia morphology, Split hand, Hydrocephalus, Anenceph...	ORPHA:1335
Roifman-Chitayat Syndrome	Short metacarpal, Pneumonia, Optic atrophy, Short metatarsal, Cone-shaped epiphysis, Ventriculome...	OMIM:613328
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Thrombocytopenia, Splenomegaly, Metaphyseal widening, Optic a...	OMIM:617303
Achondroplasia	Respiratory distress, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, ...	OMIM:100800
Bardet-Biedl Syndrome 20	Papilledema, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, Asthma,...	OMIM:619471
Parietal Foramina 1	Wormian bones	OMIM:168500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Smal...	ORPHA:96334
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Osteopenia, Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia invol...	ORPHA:221016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt...	OMIM:614643
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men...	ORPHA:1908
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Joubert Syndrome 2	Central apnea, Encephalocele, Enlarged fossa interpeduncularis, Retinal dystrophy, Episodic tachy...	OMIM:608091
Osteogenesis Imperfecta, Type Xx	Posteriorly rotated ears, Multiple prenatal fractures, Low-set ears, Wormian bones, Crumpled ear	OMIM:618644
Triploidy	Hepatomegaly, Finger syndactyly, Cryptorchidism, Abnormality of the pancreas, Abnormality of the ...	ORPHA:3376
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundice, Asthma,...	OMIM:612714
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Hydrocephalus, Preaxial polydactyly, Retinal vascular t...	OMIM:243605
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse...	ORPHA:289157
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Optic atrophy, Coarse metaphyseal ...	ORPHA:2801
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Morning glory anomaly, Hydrocephalus, Meningocele, Optic at...	OMIM:614424
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Pneumonia, Nodular regenerative hyperplasia of liver...	ORPHA:247691
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormal long bone morphology, Abnormality of th...	ORPHA:228123
3-Methylglutaconic Aciduria, Type V	Postnatal growth retardation, Intrauterine growth retardation, Failure to thrive, Optic atrophy	OMIM:610198
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ...	OMIM:602557
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Short toe, Lymphadenopathy, Ab...	ORPHA:39041
3C Syndrome	Finger syndactyly, Ventriculomegaly, Hydrocephalus, Optic atrophy, Hand polydactyly, Abnormal hip...	ORPHA:7
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,...	OMIM:617952
X-Linked Intellectual Disability, Hedera Type	Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore...	ORPHA:93952
Menkes Disease	Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Wormian bones	OMIM:309400
Lymphangioleiomyomatosis	Retinal hamartoma, Dyspnea, Hydrocephalus, Abnormality of the lymphatic system, Optic atrophy, Pn...	ORPHA:538
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Bronchiectasis, Noncommunicating hydrocephalus, ...	OMIM:618699
Hennekam-Beemer Syndrome	Camptodactyly of finger, Lower limb asymmetry, Conductive hearing impairment, Microtia, Clinodact...	ORPHA:2135
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Short stature, Sensorineural hearing impa...	ORPHA:423479
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Op...	ORPHA:87
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Bilateral talipes equinovarus	OMIM:616521
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Respiratory distress, ...	OMIM:615512
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Erythrocytosis, Familial, 1	Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion...	OMIM:133100
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis	OMIM:207750
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate p...	OMIM:224120
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Central hypoventilation, Optic atrophy, Increased CSF lactate, Respiratory failure	OMIM:618233
Joubert Syndrome 1	Central apnea, Optic disc pallor, Enlarged fossa interpeduncularis, Retinal dystrophy, Episodic t...	OMIM:213300
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bo...	OMIM:618188
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, A...	ORPHA:235
Wildervanck Syndrome	Meningocele, Pseudopapilledema, Facial palsy	ORPHA:3456
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Apnea, Splenomegaly, Hydrocephalus, Lymphadenopathy, Abno...	ORPHA:667
Oculocerebrocutaneous Syndrome	Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal...	ORPHA:1647
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr...	ORPHA:93932
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Rocker bottom foot, Hydrocephalus, Pigmentary retinopathy, Hip dysplasia, Short 2nd to...	OMIM:612582
Periventricular Nodular Heterotopia 9	Prominent metopic ridge, Posteriorly rotated ears, Single transverse palmar crease, Tapered finge...	OMIM:618918
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Overlapping toe, Apnea, Optic atrophy, Hip dislocation, Elbow flexion contractur...	OMIM:617301
Craniometaphyseal Dysplasia, Autosomal Recessive	Metaphyseal dysplasia, Facial palsy, Flared metaphysis, Optic atrophy, Club-shaped distal femur, ...	OMIM:218400
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Long fingers, Clinodactyly, Ca...	OMIM:256520
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Optic atrophy, Clino...	ORPHA:3255
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Limited mobility of proximal interphal...	OMIM:222300
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Generalized j...	ORPHA:2962
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hyposegmentati...	OMIM:614800
Stankiewicz-Isidor Syndrome	Absent thumb, Cryptorchidism, Short thumb, 2-3 toe syndactyly, Pineal cyst, Abnormal optic disc m...	OMIM:617516
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Pulmonary arteria...	OMIM:616028
Combined Oxidative Phosphorylation Defect Type 39	Ankle clonus, Prominent calcaneus, Congenital foot contractures	ORPHA:565624
Gorlin Syndrome	Arachnodactyly, Palmar pits, Cryptorchidism, Hydrocephalus, Brachydactyly	ORPHA:377
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Immunodeficiency 49	Wormian bones, Posteriorly rotated ears	OMIM:617237
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Metaphyseal widening, Hydrocephalus, Optic atrophy, Diaphyseal sclerosis, Erlen...	OMIM:618476
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Hypoplastic scapulae, Increased bone mineral density, Aplast...	OMIM:119600
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Coxa valga, Hydrocephalus, Hip dislocation, Ventriculomegaly	OMIM:109120
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Hydrocephalus	OMIM:300558
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Knee flexion contracture, Triangular shaped distal phalanges of t...	OMIM:271665
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic neuropathy, Optic atrophy, Failure to thrive, Hearing impairment	OMIM:618249
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Pulmonary embolism, Abnormal retinal vascular mo...	ORPHA:3205
Aase-Smith Syndrome I	Slender finger, Hydrocephalus, Talipes equinovarus, Dandy-Walker malformation	OMIM:147800
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Ayme-Gripp Syndrome	Posteriorly rotated ears, Hearing impairment, Tapered finger, Sensorineural hearing impairment, R...	OMIM:601088
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Microcytic anemia, Cryptorchidism, Genu valgum, Abnormal optic dis...	ORPHA:293967
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Beckwith-Wiedemann Syndrome	Otosclerosis, Prominent metopic ridge, Accelerated skeletal maturation, Wide anterior fontanel, L...	ORPHA:116
Infantile Liver Failure Syndrome 3	Hepatomegaly, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, S...	OMIM:618641
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Trisomy 10P	Thumb contracture, Wide cranial sutures, Posteriorly rotated ears, Abnormality of the hand, Abnor...	ORPHA:171929
Kid Syndrome	Coxa valga, Equinus calcaneus, Prelingual sensorineural hearing impairment, Patellar hypoplasia, ...	ORPHA:477
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Hydrocephalus, Abnormal vitreous humor morphology, M...	ORPHA:1571
Pontocerebellar Hypoplasia, Type 7	Apnea, Single transverse palmar crease, Cryptorchidism, Hydrocephalus, Optic atrophy, Ventriculom...	OMIM:614969
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Respiratory insufficiency due to muscle weakness, Hydrocephalus, Retinal degeneration	OMIM:615249
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Short stature, Cachexia, Optic atrophy, Hearing impairment	ORPHA:702
Camurati-Engelmann Disease	Hepatomegaly, Abnormal morphology of the radius, Metaphyseal dysplasia, Facial palsy, Abnormal mo...	ORPHA:1328
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Lambdoidal craniosynostosis, Wormian bones...	OMIM:616294
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Branchiooculofacial Syndrome	Posteriorly rotated ears, Single transverse palmar crease, Proximal placement of thumb, Short thu...	OMIM:113620
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Epiphyseal dysplasia, Pneumonia, Splenomegaly, Metaphyseal widening, Split hand, Hy...	OMIM:253200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Hydrocephalus, Optic atrophy, Respiratory insufficiency, Holop...	OMIM:253800
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Palmoplantar cutis gyrata, Abnormality of the pancreas, Cryptorchidism, Hyd...	ORPHA:1555
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Optic atrop...	OMIM:220110
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Abnormality of retinal pigmentation, Thrombocytopenia, Hydrocephalus, Optic...	ORPHA:505248
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Asthma, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of...	OMIM:300578
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Metatarsus adductus, Splenomegaly, Hydrocephalus, Genu valgum, Narrow greater sciat...	OMIM:253220
Juvenile Glaucoma	Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho...	ORPHA:98977
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Asplenia, Bronchiectasis, Immotile cilia, Chronic rhiniti...	OMIM:244400
Schwartz-Jampel Syndrome	Micromelia, Coxa vara, Wrist flexion contracture, Low-set, posteriorly rotated ears, Increased bo...	ORPHA:800
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Respiratory insufficiency due to muscle weakness, Optic atrophy, Increased CSF lact...	ORPHA:436271
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Ventriculomegaly, Retinal neovascularization	OMIM:619074
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Decreased CSF biopterin level, Axon...	ORPHA:404454
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia involving...	ORPHA:3301
Dominant Beta-Thalassemia	Hypoparathyroidism, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpus...	ORPHA:231226
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Enlarged pol...	ORPHA:91348
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir...	ORPHA:91350
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Communicating hydrocephalus, Respiratory failure	ORPHA:1861
Rabin-Pappas Syndrome	Retinal detachment, Hypoventilation, Optic nerve hypoplasia, Retinal telangiectasia, Hydrocephalu...	OMIM:620155
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy...	ORPHA:436159
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Genitopalatocardiac Syndrome	Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Postaxial hand pol...	ORPHA:2075
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Polydactyly, Pigmentary retinopathy	OMIM:616562
Hemangioblastoma	Retinal capillary hemangioma, Hydrocephalus	ORPHA:252054
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Recurre...	OMIM:618935
Ritscher-Schinzel Syndrome 1	Syndactyly, Hydrocephalus, Decreased response to growth hormone stimulation test, Dandy-Walker ma...	OMIM:220210
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Poems Syndrome	Papilledema, Metaphyseal sclerosis, Respiratory insufficiency due to muscle weakness, Lymphadenop...	ORPHA:2905
Curry-Jones Syndrome	Bicoronal synostosis, Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndact...	OMIM:601707
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Bowing of the long bones, Increased bone mineral density, Mi...	ORPHA:1798
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Delayed cranial suture closure	ORPHA:1129
White-Sutton Syndrome	Joint laxity, Posteriorly rotated ears, Sensorineural hearing impairment, Bilateral sensorineural...	OMIM:616364
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Respiratory insufficiency	OMIM:618042
Osteopetrosis, Autosomal Recessive 9	Papilledema, Hyperparathyroidism, Anemia	OMIM:620366
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Splenomegaly, Dyspnea, Optic atrophy, Megalopapill...	OMIM:615636
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Spina b...	OMIM:613776
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm...	OMIM:214500
Marshall-Smith Syndrome	Large sternal ossification centers, Accelerated skeletal maturation, Distal widening of metacarpa...	OMIM:602535
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Finger syndactyly, Arachnodactyly, ...	ORPHA:193
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Hydrocephalus	OMIM:231005
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Peho Syndrome	Hydrocephalus, Optic atrophy, Ventriculomegaly, Tapered finger	ORPHA:2836
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Whipple Disease	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Hydrocephalus, Respiratory insufficiency...	ORPHA:3452
Rothmund-Thomson Syndrome Type 1	Osteopenia, Short metacarpal, Plantar hyperkeratosis, Metaphyseal sclerosis, Delayed skeletal mat...	ORPHA:221008
D-Bifunctional Protein Deficiency	Osteopenia, Delayed skeletal maturation, Split hand, Large fontanelles, Hammertoe, Talipes equino...	OMIM:261515
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormality of the spleen, Abnormality of the liver, Hydr...	ORPHA:1834
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic steatosis, Asthma, Hy...	OMIM:619377
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus	OMIM:312190
Mucopolysaccharidosis Type 3	Hepatomegaly, Ventriculomegaly, Adenoiditis, Cardiomegaly, Splenomegaly, Avascular necrosis of th...	ORPHA:581
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus, Preaxial polydactyly, Anence...	OMIM:616546
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Sandal gap, Brachydactyly	ORPHA:2180
Spastic Paraplegia 9A, Autosomal Dominant	Delayed skeletal maturation, Abnormal pelvic girdle bone morphology, Pes cavus, Carpal bone hypop...	OMIM:601162
Jacobsen Syndrome	Cryptorchidism, Hydrocephalus, Optic atrophy, Macular hypoplasia, Holoprosencephaly, Chorioretina...	OMIM:147791
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Episodic tachypnea, Apnea, Hydrocephalus, Hand polydactyly,...	ORPHA:475
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hallux valgus, Respiratory distress, Bowing of the long bones, Arachnodactyly, Phalangeal disloca...	ORPHA:536467
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuating splenomeg...	OMIM:610377
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Tapered finger, Accelerated skeletal maturation, 2-3 toe syndactyly, Low-set ear...	OMIM:618653
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade...	ORPHA:231214
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hallux valgus, Rhizomelia, Sandal gap, Spatulate thumbs, Cardiomegaly, Broad distal phalanges of ...	OMIM:245600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Ventriculomegaly, Optic nerve hypop...	OMIM:236670
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pleural effusion, Lymphadenopathy	ORPHA:85414
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Optic atrophy, Dandy-Walker malformation, Ventriculomegaly	OMIM:304340
H Syndrome	Hallux valgus, Microcytic anemia, Hydrocephalus, Bronchiectasis, Hepatosplenomegaly, Lymphadenopa...	ORPHA:168569
Williams-Beuren Region Duplication Syndrome	Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom...	OMIM:609757
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis	OMIM:238600
Mogs-Cdg	Respiratory distress, Hepatomegaly, Absent brainstem auditory responses, Hypoventilation, Apnea, ...	ORPHA:79330
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism, Respiratory insufficiency, Thrombocytopenia	ORPHA:1237
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Recurrent fractures, Joint hyperflexibility, Wormi...	ORPHA:2050
Dextrocardia	Congenital hip dislocation, Abnormality of the spleen, Hydrocephalus, Abnormality of abdominal si...	ORPHA:1666
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Down-sloping shoulders, Coxa valga, Joint stiffness, Flexion contracture, Elbow flexi...	OMIM:248370
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Cryptorchidis...	ORPHA:261344
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L...	OMIM:260920
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Aganglionic megacol...	OMIM:154400
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo...	OMIM:231070
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Macular coloboma, Megaloblastic anemia, Pulmonary embolism, Thrombocytopeni...	ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Retinal dystrophy, Hydrocephalus, Ventriculomegaly	OMIM:616538
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea	ORPHA:90037
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin...	ORPHA:314585
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Delayed cranial suture closure, Severe generalized osteoporosis, Talipes, Hypopl...	OMIM:210730
Cockayne Syndrome A	Hepatomegaly, Hip contracture, Retinal atrophy, Abnormal peripheral myelination, Abnormal auditor...	OMIM:216400
Mandibuloacral Dysplasia With Type B Lipodystrophy	Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phal...	OMIM:608612
Leber Optic Atrophy	Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy	OMIM:535000
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Pneu...	OMIM:614700
Pycnodysostosis	Persistent open anterior fontanelle, Increased bone mineral density, Aplastic clavicle, Osteolyti...	OMIM:265800
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Decreased response to growth hormone stimulation test, Tapered finger...	OMIM:616007
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Wide distal femoral metaphysis,...	OMIM:269150
Biotinidase Deficiency	Hepatomegaly, Apnea, Splenomegaly, Tachypnea, Optic atrophy	OMIM:253260
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Ventriculomegaly, Abn...	ORPHA:2072
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Drumstick terminal phalanges, Dandy-Walker malformation, Brachydac...	OMIM:612938
Tetrasomy 5P	Respiratory distress, Overlapping toe, Short hallux, Long fingers, Hydrocephalus, Talipes equinov...	ORPHA:3309
Holoprosencephaly	Encephalocele, Abnormality of the spleen, Cryptorchidism, Hydrocephalus, Optic atrophy, Panhypopi...	ORPHA:2162
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Left ventricular hypertro...	ORPHA:90065
Meckel Syndrome, Type 1	Occipital encephalocele, Asplenia, Dandy-Walker malformation, Accessory spleen, Syndactyly, Malfo...	OMIM:249000
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Hydrocephalus, Optic atrophy, Genu valgu...	OMIM:619321
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Mediastinal lymphadeno...	OMIM:181000
Fanconi Anemia, Complementation Group D2	Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxial hand polydactyly...	OMIM:227646
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Inspiratory stridor	OMIM:207950
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Anomaly of lower limb diaphyses, Pes planus, Arachnodacty...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Anomaly of lower limb diaphyses, Pes planus, Arachnodacty...	ORPHA:363958
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion ...	OMIM:616005
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Apnea, Optic atrophy, Increased hepatic echogenicity, Hepatic steatosis	OMIM:261680
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Wormian bones, Coronal craniosynos...	OMIM:112240
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Single transverse palmar crease, Metatarsus adduct...	OMIM:614866
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventriculomegaly, Macular atrophy, Microvesicular hepatic steatos...	OMIM:619418
Hydrolethalus	Micromelia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Anencephaly	ORPHA:2189
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor...	ORPHA:3472
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand polydactyly, Enlar...	OMIM:314390
Tetrasomy 15Q26	Hydrocephalus, Arachnodactyly, Dandy-Walker malformation, Camptodactyly	OMIM:614846
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Short stature, Optic nerve hypoplasia, Postnatal growth retardation, Sensorine...	OMIM:300749
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Peripheral axonal neuropathy, Splenomegaly, Hydrocephalu...	OMIM:115150
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Dysgerminoma	OMIM:123500
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:218350
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Hajdu-Cheney Syndrome	Osteopenia, Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Recurr...	ORPHA:955
Houge-Janssens Syndrome 1	Hydrocephalus, Congenital hip dislocation, Ventriculomegaly	OMIM:616355
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Hallux valgus, Thumb contracture, Retinal dystrophy, Tapered finger, Duplication of distal phalan...	ORPHA:324540
Intellectual Developmental Disorder, Autosomal Dominant 65	Single transverse palmar crease, Noncommunicating hydrocephalus, Short foot, Short palm, Clinodac...	OMIM:619320
Mend Syndrome	Broad hallux, Overlapping toe, Cryptorchidism, Long fingers, Hydrocephalus, 2-3 toe syndactyly, M...	OMIM:300960
Proteus Syndrome	Pulmonary embolism, Neoplasm of the thymus, Abnormal finger morphology, Chorioretinal coloboma, C...	ORPHA:744
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Rocker bottom foot, Crypto...	ORPHA:163979
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis	OMIM:615947
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Apnea, Hydrocephalus, Hand polydactyly, Abnormal pattern of...	ORPHA:220497
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Gapo Syndrome	Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Wide anterior fontane...	OMIM:230740
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Cholecystitis, Incre...	OMIM:250100
Wrinkly Skin Syndrome	Osteopenia, Pes planus, Scapular winging, Congenital hip dislocation, Joint hypermobility, Delaye...	OMIM:278250
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad hallux, Optic nerve hypoplasia, Facial palsy, Abnormality of the hand, Overlapping toe, Pre...	ORPHA:508498
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Stomatoc...	ORPHA:168577
Campomelic Dysplasia	Respiratory distress, Apnea, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hy...	OMIM:114290
Osteogenesis Imperfecta	Osteopenia, Micromelia, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Abnormal ...	ORPHA:666
Amish Lethal Microcephaly	Hepatomegaly, Ventriculomegaly, Optic atrophy, Spina bifida	ORPHA:99742
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Short foot, Hand polydactyly...	ORPHA:250989
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Sandal gap, Macrodactyly, Spinal dysraphism	OMIM:612918
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Asthma, Hydrocephalus, Small hand, Short foot, Hip dysplasia, Dilated third ventr...	ORPHA:500055
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Optic disc pallor, Neonatal respiratory distress, Rocker bottom foot, Acanthoc...	OMIM:618947
Arima Syndrome	Dilated fourth ventricle, Hepatomegaly, Retinal dystrophy, Dyspnea, Postaxial hand polydactyly, T...	OMIM:243910
Craniopharyngioma	Papilledema, Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hydrocephalus, Optic a...	ORPHA:54595
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Optic atrophy, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy	OMIM:601539
Diabetic Embryopathy	Abnormality of the pancreas, Hydrocephalus, Spinal dysraphism, Cryptorchidism	ORPHA:1926
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Postaxial polydactyly	OMIM:603387
1Q44 Microdeletion Syndrome	Hydrocephalus, Optic disc hypoplasia, Ventriculomegaly	ORPHA:238769
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Optic atrophy, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Joint laxity, Arachnodactyly, Posteriorly rotated ears, Hearing impairment, Ge...	OMIM:601776
Glutaric Acidemia I	Hepatomegaly, Symmetrical progressive peripheral demyelination, Hydrocephalus, Lateral ventricle ...	OMIM:231670
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Overlapping toe, Hydrocephalus, Optic atrophy, Palmoplantar cutis laxa, Lim...	OMIM:123790
Desmosterolosis	Micromelia, Metatarsus adductus, Splenomegaly, Hydrocephalus, Ventriculomegaly	ORPHA:35107
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Ab...	ORPHA:1187
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Promin...	OMIM:612863
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly, Brachydactyly	OMIM:620156
Maternal Uniparental Disomy Of Chromosome 4	Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Optic atrophy, Pig...	ORPHA:96180
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Rhizomelia, Hydrocephalus, Tibial bowing, Femoral bowing, Re...	OMIM:616482
Monosomy 18Q	Arachnodactyly, Abnormal palmar dermatoglyphics, Abnormal retinal morphology, Tapered finger, Bil...	ORPHA:1600
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Sinusitis, Splenomegaly, Lymphadenopathy, Anemia, Finger swelling, Lymphopenia, Thr...	OMIM:617591
Nestor-Guillermo Progeria Syndrome	Wide cranial sutures, Delayed closure of the anterior fontanelle, Limited elbow movement, Joint s...	OMIM:614008
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Exertional dyspnea	ORPHA:90033
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Optic disc pallor, Arachnodactyly, Coxa valga, Elbow dislocation, Cryptorchidism, Metaphyseal wid...	OMIM:620083
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the radius, Hip d...	ORPHA:3412
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Single transverse palmar crease, Intermittent thrombocytopenia, Erythroid hypoplasi...	OMIM:612541
Marfan Syndrome	Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Genu recurvatum, Protrusio a...	OMIM:154700
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Retinal dystrophy, Single transverse palmar crease, Decreased nerve conduction velo...	OMIM:614863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv...	OMIM:615287
Chops Syndrome	Splenomegaly, Cryptorchidism, Optic atrophy, Aspiration pneumonia, Tracheomalacia, Chronic lung d...	OMIM:616368
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Abnormal fibula morphology, Vent...	ORPHA:1812
Alg9-Cdg	Low-set, posteriorly rotated ears, Prominent metopic ridge, Ulnar deviation of the hand, Rhizomel...	ORPHA:79328
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Papilledema, Retinal calcification, Thickened cortex of long bones, Anemia, A...	OMIM:127000
Emanuel Syndrome	Ventriculomegaly, Congenital hip dislocation, Cryptorchidism, Hydrocephalus, Recurrent sinusitis,...	OMIM:609029
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Tracheomalacia, Hearing impairment, ...	ORPHA:444077
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Slender long bone, Hydrocephalus, Optic atrophy	OMIM:618590
Halperin-Birk Syndrome	Optic atrophy, Hip dislocation, Colpocephaly, Talipes equinovarus, Aspiration, Ventriculomegaly, ...	OMIM:618651
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Optic atrophy, Apnea, Ventriculomegaly	ORPHA:395
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Coffin-Siris Syndrome 12	Joint laxity, Overfolding of the superior helices, Posteriorly rotated ears, Hip subluxation, Sho...	OMIM:619325
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Small hand, Camptodactyly, Dandy-Walker malformation, Bilateral single transverse ...	ORPHA:459061
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Pes planus, Genu recurvatum, Hip dislocation, Talipes calcaneovalgus, P...	ORPHA:90348
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Single transverse palmar crease, Cryptorchidism, Hydrocephalus, Split h...	OMIM:305450
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Optic atrophy, Genu valg...	OMIM:612199
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tachypnea, Anemia, Metaphyseal ...	OMIM:239200
Gaucher Disease	Hepatomegaly, Pancytopenia, Ventriculomegaly, Thrombocytopenia, Splenomegaly, Hydrocephalus, Hepa...	ORPHA:355
Mandibuloacral Dysplasia	Contractures of the large joints, Osteolytic defects of the distal phalanges of the hand, Short c...	ORPHA:2457
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinod...	ORPHA:457284
Hallermann-Streiff Syndrome	Tracheomalacia, Abnormality of the hand, Metaphyseal widening, Slender long bone, Decreased numbe...	OMIM:234100
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Retinal dystrophy, Aqueductal stenosis, Cryptorchidism, Long fingers,...	OMIM:619512
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Metatarsus adductus, Small hand, Genu valgum, Short foot, Lateral ventric...	ORPHA:300570
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Optic atrophy, Clinodactyly, 3-4 toe syndactyly, Brachydactyly	OMIM:618727
Emanuel Syndrome	Ventriculomegaly, Congenital hip dislocation, Cryptorchidism, Hydrocephalus, Cough, Dandy-Walker ...	ORPHA:96170
Basal Cell Nevus Syndrome 2	Palmar pits, Hydrocephalus, Neurofibroma	OMIM:620343
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper...	OMIM:216340
Fanconi Anemia	Abnormal femur morphology, Leukopenia, Abnormality of the liver, Triphalangeal thumb, Clinodactyl...	ORPHA:84
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Chorioretin...	OMIM:305600
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Foot polydactyly, Chorioretinal coloboma, Short palm, Tracheomalacia	ORPHA:268249
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Dandy-Walk...	OMIM:606519
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Pseudotrisomy 13 Syndrome	Encephalocele, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Pos...	OMIM:264480
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Hydrocephalus, Optic atrophy	ORPHA:220295
Tarp Syndrome	Finger syndactyly, Extramedullary hematopoiesis, Apnea, Single transverse palmar crease, Rocker b...	ORPHA:2886
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Single transverse palmar crease, Flexion contractur...	OMIM:180849
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Craniosynostosis, Tapered finger, Small hand, Hip dysplasia, Microtia, Low-set ears, Delayed cran...	OMIM:620005
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Normochromic anemia, Cholelithiasis, Thrombocytopenia, Hyperventilation	OMIM:618775
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Dural Sinus Malformation	Myelopathy, Papilledema, Hydrocephalus	ORPHA:97339
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Aganglionic megacolon, Abnormality of the tonsils, Arachnodactyly, Spina bifi...	ORPHA:567
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Holoprosencephaly, Hepatic...	OMIM:270400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Hydrocephalus, Cubitus valgus	OMIM:104350
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand po...	OMIM:605627
Monosomy 9Q22.3	Ovarian fibroma, Palmar pits, Hydrocephalus, Polydactyly, Retinopathy, Ventriculomegaly	ORPHA:77301
Wrinkly Skin Syndrome	Osteopenia, Pes planus, Congenital hip dislocation, Delayed closure of the anterior fontanelle, G...	ORPHA:2834
Mitochondrial Trifunctional Protein Deficiency	Pes cavus, Decreased patellar reflex, Equinovarus deformity, Equinus calcaneus	ORPHA:746
Marbach-Rustad Progeroid Syndrome	Wormian bones, Femur fracture, Short clavicles, Reduced bone mineral density	OMIM:619322
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Postaxial polydactyly	OMIM:219730
Cockayne Syndrome B	Hepatomegaly, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased ner...	OMIM:133540
Mend Syndrome	Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Cryptorchidism, Long fingers,...	ORPHA:401973
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Tapered finger, Hydrocephalus, Hydrocele testis, Talipes equinovarus, Vent...	OMIM:613603
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ...	ORPHA:522077
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules	OMIM:139090
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Optic atrophy, Hepat...	OMIM:615688
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Cryptorchidism, Hydrocephalus, Optic atrophy, Genu valgum, Deep palm...	ORPHA:1340
Medulloblastoma	Vertigo, Bilateral sensorineural hearing impairment, Delayed cranial suture closure	ORPHA:616
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno...	OMIM:616914
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Retina...	ORPHA:93325
Blau Syndrome	Facial palsy, Camptodactyly of finger, Abnormal retinal vascular morphology, Retrobulbar optic ne...	ORPHA:90340
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Hydrocephalus, Pigmentary retinopathy, Neutropenia, Thrombocytopenia	OMIM:277400
Trisomy 17P	Clinodactyly of the 5th finger, Hydrocephalus, Tapered finger	ORPHA:261290
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Metatarsus adductus, Cryptorchidism, Metaphyseal widening, Hydrocephalus, Genu va...	OMIM:182212
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Optic disc pallor, Pancytopenia, Pneumonia, Genu valgum, Hepatosplen...	ORPHA:309282
Orofaciodigital Syndrome I	Syndactyly, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cyst, Short 2nd toe, Hepat...	OMIM:311200
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hydrocephalus	OMIM:614886
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Hydrocephalus, Tachypnea, Optic atrophy, Polycystic ovaries, Cough	ORPHA:137675
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Osteopathia Striata With Cranial Sclerosis	Arachnodactyly, Facial palsy, Apnea, Tracheomalacia, Hydrocephalus, Osteopathia striata, Spina bi...	OMIM:300373
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Hepatomegaly, Congenital hip dislocation, Cardiomegaly, Asplenia, Aqueducta...	OMIM:306955
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossi...	OMIM:109400
Icf Syndrome	Anemia, Lymphopenia, Communicating hydrocephalus, Abnormality of neutrophils	ORPHA:2268
Distal Triplication 15Q	Arachnodactyly, Hydrocephalus, Hydrocele testis, Camptodactyly, Dandy-Walker malformation	ORPHA:314588
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Duplication of thumb phalanx, Joint stiffness, Large fontanelles, Osteoc...	ORPHA:2995
Holoprosencephaly 9	Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimu...	OMIM:610829
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Neurofibroma, Tibial pseudarthrosis, Genu valgu...	OMIM:162200
Aicardi Syndrome	Retinal detachment, Proximal placement of thumb, Spina bifida, Chorioretinal lacunae, Optic disc ...	OMIM:304050
Tuberous Sclerosis Complex	Respiratory distress, Retinal astrocytic hamartoma, Retinal hamartoma, Pancreatic endocrine tumor...	ORPHA:805
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Hydrocephalus	ORPHA:31
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Simpson-Golabi-Behmel Syndrome, Type 1	Accelerated skeletal maturation, Narrow greater sciatic notch, Short palm, Posterior helix pit, S...	OMIM:312870
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio	OMIM:618880
Spondylocostal Dysostosis 4, Autosomal Recessive	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Myelomeningocele, ...	OMIM:613686
Tenorio Syndrome	Osteopenia, Joint laxity, Delayed cranial suture closure	OMIM:616260
Common Variable Immunodeficiency	Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden...	ORPHA:1572
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Hepatomegaly, Arachnodactyly, Pulmonary ...	ORPHA:394
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Neutropenia, Enlarged ...	OMIM:232220
Williams Syndrome	Osteopenia, Protruding ear, Clinodactyly of the 5th finger, Chronic otitis media, Joint laxity, L...	ORPHA:904
7Q11.23 Microduplication Syndrome	Single transverse palmar crease, Long fingers, Cryptorchidism, Hydrocephalus, Abnormal optic disc...	ORPHA:96121
Fuchs Heterochromic Iridocyclitis	Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor...	ORPHA:263479
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Supernumerary nipple, Retinal vascular...	OMIM:308300
Lhermitte-Duclos Disease	Hydrocephalus, Hand polydactyly, Ovarian neoplasm	ORPHA:65285
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Smal...	ORPHA:50
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Crani...	ORPHA:2785
Norrie Disease	Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia	OMIM:310600
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb...	OMIM:153670
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Holoprosencephaly	ORPHA:77298
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Respiratory insufficiency, Normal pressure hydrocephalus, Cong...	OMIM:620351
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, A...	ORPHA:2462
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Meningioma	Papilledema, Enlarged pituitary gland, Facial palsy, Reduced circulating prolactin concentration,...	ORPHA:2495
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Bone marrow hypocellul...	OMIM:614083
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Pes planus, Elbow dislocation, Abnormal foot morphology, Osteoarthritis, Limit...	ORPHA:285
Ramon Syndrome	Optic disc pallor, Short stature, Pigmentary retinopathy, Decreased body weight, Hearing impairment	OMIM:266270
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cryptorchidism, Hydrocephalus, Chronic myelogenous leukemia,...	ORPHA:636
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233710
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane...	ORPHA:63259
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Hydrocephalus, Hepatic calcification, ...	ORPHA:228308
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Sensorineural heari...	ORPHA:226307
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Retinal hemorrhage, Subependymal nodules	ORPHA:25
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Short sternum, Leukemia, Dandy-Walker malformation	OMIM:257300
Leptospirosis	Respiratory distress, Papilledema, Hepatomegaly, Jaundice, Retinal hemorrhage, Hepatitis, Lymphad...	ORPHA:509
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Camptodactyly of finger, Tapered finger, Cryptorchidism, Hydrocephalus, Optic dis...	ORPHA:261337
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233690
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Hypoplasia of the retina, Retina...	OMIM:253280
Wolfram Syndrome 2	Sensorineural hearing impairment, Optic atrophy, Optic neuropathy	OMIM:604928
Wolf-Hirschhorn Syndrome	Accessory spleen, Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hall...	OMIM:194190
Arachnoiditis	Hydrocephalus	ORPHA:137817
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Cranial nerve compression, Hydroce...	ORPHA:2356
Pagod Syndrome	Encephalocele, Spina bifida, Abnormality of the spleen, Meningocele, Optic atrophy, Abnormal test...	ORPHA:991
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:306400
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Epiphyseal dysplasia, Congenital hip dislocation, Optic atrophy	OMIM:617913
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Lower limb asymmetry, Joint stiffness...	ORPHA:1606
Fraser Syndrome 3	Short toe, Ascites, Hydrocephalus, Cutaneous syndactyly	OMIM:617667
Ogden Syndrome	Large posterior fontanelle, Prominent metopic ridge, Congenital hip dislocation, Broad hallux, Sa...	OMIM:300855
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Hydrocephalus, Hepatic calcification	ORPHA:157
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Optic neuropathy, Broad ischia, Optic atrophy, Diaphyseal dysplasia, Short...	OMIM:619727
Hydrolethalus Syndrome 1	Accessory spleen, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx o...	OMIM:236680
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus	OMIM:601499
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dyspl...	ORPHA:2556
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Thyr...	ORPHA:2166
Peters-Plus Syndrome	Single transverse palmar crease, Bilobate gallbladder, Limited elbow movement, Proximal placement...	OMIM:261540
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Joint stiffne...	OMIM:619127
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis, Hydrocephalus, Hypoplastic pelvis	OMIM:273395
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed skeletal maturation, Delayed proximal femoral epiphyseal ossi...	ORPHA:90674
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Joint laxity, Pes planus, Synostosis involving the 1st metacarpal, Clinodactyly of...	ORPHA:466791
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Delayed cranial suture closure	OMIM:613038
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent ...	OMIM:268300
Neurooculorenal Syndrome	Ectopic posterior pituitary, Short hallux, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Ta...	OMIM:620305
Desmosterolosis	Rhizomelia, Hydrocephalus, Bilateral talipes equinovarus, Joint contracture of the hand, Ventricu...	OMIM:602398
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thrombocytopenia, Hy...	ORPHA:77293
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Hydrocephalus, Single transverse palmar crease, Colpocephaly	OMIM:309801
Tetrasomy 9P	Absent gallbladder, Hypoplastic scapulae, Abnormal chorioretinal morphology, Cryptorchidism, Jaun...	ORPHA:3310
Alexander Disease	Facial palsy, Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal autonomic n...	ORPHA:58
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Hydrocephalus, Pneumothorax, Res...	OMIM:218040
Capillary Malformation-Arteriovenous Malformation	Chylothorax, Hydrocephalus, Abnormality of the lymphatic system, Epistaxis	ORPHA:137667
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Raine Syndrome	Bowing of the long bones, Micromelia, Hydrocephalus, Long hallux, Brachydactyly	OMIM:259775
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydacty...	OMIM:617088
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Short fifth metatarsal, Short fourth metatars...	OMIM:619841
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Wide anterior fontanel, Hip dislocation, Joint subluxation, Pathologic fracture, De...	ORPHA:90349
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P...	ORPHA:261537
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Pneumonia, Hypoplastic ilia, Cryptorchidism, Long fingers, ...	OMIM:264090
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Aqueductal stenosis, Hepatic fibrosis, Intrahepatic bile duct dila...	OMIM:619534
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Camptodactyly of finger, Metatarsus adductus, Cryptorchidism, Hydrocephalus, O...	OMIM:607872
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Cryptorchidism, Short toe, Hydrocephalus, Optic atrophy, ...	ORPHA:709
Kabuki Syndrome	Cryptorchidism, Hydrocephalus, Small hand, Hip dislocation, Short middle phalanx of finger, Short...	ORPHA:2322
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Hydrocephalus, Pleural effusion, Ascites, Enlarged kidney	OMIM:261740
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Pes planus, Recur...	ORPHA:2152
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Crypto...	OMIM:208150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, Abnormal abdomen morphology, Jaundice, Neurofibroma, Hydrocephal...	OMIM:619475
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bilateral talipes...	OMIM:600145
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Cryptorchidism, Myelomeningocele, Aplasia/Hypopla...	OMIM:219000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Peripapillary...	OMIM:175780
Isotretinoin-Like Syndrome	Hydrocephalus, Lymphopenia	ORPHA:2306
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Optic disc hypoplasia, Decreased response to growth hormone...	ORPHA:3455
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Syndactyly, Lateral ventricle dilatation, Polydactyly	OMIM:619869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Alobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocat...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocat...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocat...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocat...	ORPHA:220386
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Fontaine Progeroid Syndrome	Syndactyly, Absent nipple, Cryptorchidism, Hydrocephalus, Pneumothorax, Respiratory insufficiency...	OMIM:612289
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P...	ORPHA:261552
Diamond-Blackfan Anemia 1	Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of ...	OMIM:105650
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Spontaneous pneumothorax,...	OMIM:610168
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Hydrocephalus, Radioulnar synostosis	ORPHA:2461
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Flexion...	OMIM:601803
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Kabuki Syndrome 1	Hemolytic anemia, Congenital hip dislocation, Autoimmune thrombocytopenia, Cryptorchidism, Hydroc...	OMIM:147920
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Large hands, Arachnodactyly, Ventriculomegaly	OMIM:617011
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Narrow iliac wing, Anemia	ORPHA:3042
Microphthalmia, Isolated 4	Absent testis, Postaxial polydactyly	OMIM:613094
Hypoplasminogenemia	Hydrocephalus, Abnormality of the ovary, Dandy-Walker malformation	ORPHA:722
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Loeys-Dietz Syndrome 1	Arachnodactyly, Hydrocephalus, Postaxial hand polydactyly, Talipes equinovarus, Camptodactyly	OMIM:609192
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Schwannoma, Abnormal tibia morphology, Hydrocephalus, Genu valgum, Large hands, Subcut...	ORPHA:363700
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Oeis Complex	Congenital hip dislocation, Cryptorchidism, Myelomeningocele, Hydrocephalus, Talipes equinovarus	OMIM:258040
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Arachnodactyly, Ventriculomegaly	ORPHA:457359
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomenin...	ORPHA:573278
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia	OMIM:613703
Exstrophy-Epispadias Complex	Cryptorchidism, Hydrocephalus, Cystocele, Spina bifida	ORPHA:322
Craniofacial Microsomia 1	Occipital encephalocele, Partial duplication of thumb phalanx, Hydrocephalus, Genu valgum	OMIM:164210
Leber Congenital Amaurosis 17		OMIM:615360

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gdf6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gdf6.

No publications found that use IMPC mice or data for Gdf6.

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MGI Allele	Allele Type	Produced
Gdf6^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Gdf6^{tm181237(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Gdf6^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Gdf6^{em1(IMPC)Ccpcz}	Inter-exon deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gdf6 MGI:95689

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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