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, RodrÃguez 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 |
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Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of ... |
OMIM:105650 |
Loeys-Dietz Syndrome 2 |
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Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Spontaneous pneumothorax,... |
OMIM:610168 |
Marden-Walker Syndrome |
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Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Hydrocephalus, Radioulnar synostosis |
ORPHA:2461 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Communicating hydrocephalus |
ORPHA:1064 |
Pallister-Killian Syndrome |
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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 |
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Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Congenital hip dislocation, Autoimmune thrombocytopenia, Cryptorchidism, Hydroc... |
OMIM:147920 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, Large hands, Arachnodactyly, Ventriculomegaly |
OMIM:617011 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Narrow iliac wing, Anemia |
ORPHA:3042 |
Microphthalmia, Isolated 4 |
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Absent testis, Postaxial polydactyly |
OMIM:613094 |
Hypoplasminogenemia |
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Hydrocephalus, Abnormality of the ovary, Dandy-Walker malformation |
ORPHA:722 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Hydrocephalus |
ORPHA:2736 |
Loeys-Dietz Syndrome 1 |
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Arachnodactyly, Hydrocephalus, Postaxial hand polydactyly, Talipes equinovarus, Camptodactyly |
OMIM:609192 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Sinusitis, Schwannoma, Abnormal tibia morphology, Hydrocephalus, Genu valgum, Large hands, Subcut... |
ORPHA:363700 |
Thoracoabdominal Syndrome |
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Hydrocephalus, Anencephaly |
OMIM:313850 |
Thakker-Donnai Syndrome |
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Communicating hydrocephalus |
ORPHA:1780 |
Oeis Complex |
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Congenital hip dislocation, Cryptorchidism, Myelomeningocele, Hydrocephalus, Talipes equinovarus |
OMIM:258040 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Arachnodactyly, Ventriculomegaly |
ORPHA:457359 |
Split Cord Malformation |
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Cervical spina bifida, Hydrocephalus, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomenin... |
ORPHA:573278 |
Microphthalmia, Isolated, With Coloboma 6 |
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Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Exstrophy-Epispadias Complex |
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Cryptorchidism, Hydrocephalus, Cystocele, Spina bifida |
ORPHA:322 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Partial duplication of thumb phalanx, Hydrocephalus, Genu valgum |
OMIM:164210 |
Leber Congenital Amaurosis 17 |
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OMIM:615360 |