Hearing impairment
Symptom Information:
Symptom ID: | HPO:0000365 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the ear(HPO:0000598) Hearing abnormality(HPO:0000364) Hearing impairment(HPO:0000365) MedDRA: Ear and labyrinth disorders(MedDRA:10013993) Hearing disorders(MedDRA:10019243) Hearing impairment(HPO:0000365) Congenital, familial and genetic disorders(MedDRA:10010331) Ear and labyrinthine disorders congenital(MedDRA:10013995) Hearing disorders congenital(MedDRA:10019244) Hearing impairment(HPO:0000365) |
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Database Frequency: | 539 / 7739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
14q22q23 microdeletion syndrome | (Orphanet:264200) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
16q24.3 microdeletion syndrome | (Orphanet:261250) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
17q12 microdeletion syndrome | (Orphanet:261265) |
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
19q13.11 microdeletion syndrome | (Orphanet:217346) |
1p36 deletion syndrome | (Orphanet:1606) |
22q11.2 deletion syndrome | (Orphanet:567) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
3-methylglutaconic aciduria type 4 | (Orphanet:67048) |
3MC SYNDROME 2 | (OMIM:265050) |
3MC SYNDROME 3 | (OMIM:248340) |
3q29 microduplication | (Orphanet:251038) |
46,XX gonadal dysgenesis | (Orphanet:243) |
4q21 microdeletion syndrome | (Orphanet:238750) |
6p22 microdeletion syndrome | (Orphanet:251046) |
8p23.1 microduplication syndrome | (Orphanet:251076) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
ABCD SYNDROME | (OMIM:600501) |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:101800) |
AGAMMAGLOBULINEMIA, X-LINKED | (OMIM:300755) |
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | (OMIM:615510) |
ANUS, IMPERFORATE | (OMIM:301800) |
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY | (OMIM:208750) |
ATTRV122I amyloidosis | (Orphanet:85451) |
AUROCEPHALOSYNDACTYLY | (OMIM:109050) |
AXENFELD-RIEGER SYNDROME, TYPE 2 | (OMIM:601499) |
Ablepharon macrostomia syndrome | (Orphanet:920) |
Abruzzo-Erickson syndrome | (Orphanet:921) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acrocallosal syndrome | (Orphanet:36) |
Acrodysostosis | (Orphanet:950) |
Acrodysostosis with multiple hormone resistance | (Orphanet:280651) |
Acroosteolysis, dominant type | (Orphanet:955) |
Adrenomyeloneuropathy | (Orphanet:139399) |
Adult-onset autosomal dominant leukodystrophy | (Orphanet:99027) |
Albers-Schönberg osteopetrosis | (Orphanet:53) |
Albright hereditary osteodystrophy | (Orphanet:665) |
Alopecia - epilepsy - pyorrhea - intellectual deficit | (Orphanet:1008) |
Alopecia-intellectual deficit syndrome | (Orphanet:2850) |
Alpers syndrome | (Orphanet:726) |
Alpha-N-acetylgalactosaminidase deficiency | (Orphanet:3137) |
Alpha-N-acetylgalactosaminidase deficiency type 1 | (Orphanet:79279) |
Alpha-N-acetylgalactosaminidase deficiency type 2 | (Orphanet:79280) |
Alpha-mannosidosis | (Orphanet:61) |
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis | (Orphanet:86818) |
Alström syndrome | (Orphanet:64) |
Amish infantile epilepsy syndrome | (Orphanet:171714) |
Apert syndrome | (Orphanet:87) |
Arachnoiditis | (Orphanet:137817) |
Arnold-Chiari malformation type I | (Orphanet:268882) |
Arterial calcification, generalized, of infancy, 1 | (OMIM:208000) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Arthrogryposis-like hand anomaly - sensorineural deafness | (Orphanet:1144) |
Ataxia-deafness-retardation syndrome | (Orphanet:1188) |
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | (Orphanet:99947) |
Autosomal dominant Charcot-Marie-Tooth disease type 2J | (Orphanet:99943) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant aplasia and myelodysplasia | (Orphanet:314399) |
Autosomal dominant spastic paraplegia type 4 | (Orphanet:100985) |
Autosomal recessive Alport syndrome | (Orphanet:88919) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive cerebellar ataxia - blindness - deafness | (Orphanet:95433) |
Autosomal recessive facio-digito-genital syndrome | (Orphanet:1974) |
Autosomal recessive malignant osteopetrosis | (Orphanet:667) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | (Orphanet:331176) |
Autosomal recessive spastic ataxia with leukoencephalopathy | (Orphanet:314603) |
Autosomal recessive spastic paraplegia type 46 | (Orphanet:320391) |
Autosomal recessive spastic paraplegia type 48 | (Orphanet:306511) |
Autosomal recessive spastic paraplegia type 7 | (Orphanet:99013) |
Axenfeld-Rieger syndrome | (Orphanet:782) |
BARAITSER-WINTER SYNDROME 2 | (OMIM:614583) |
BOR syndrome | (Orphanet:107) |
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS | (OMIM:610023) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
BRANCHIOOTIC SYNDROME 2 | (OMIM:120502) |
BRANCHIOOTORENAL SYNDROME 1 | (OMIM:113650) |
BRANCHIOOTORENAL SYNDROME 2 | (OMIM:610896) |
BRESEK syndrome | (Orphanet:85284) |
BRITTLE CORNEA SYNDROME 1 | (OMIM:229200) |
BRITTLE CORNEA SYNDROME 2 | (OMIM:614170) |
Barber-Say syndrome | (Orphanet:1231) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 1 | (OMIM:209900 ) |
Bardet-Biedl syndrome 10 | (OMIM:615987) |
Bardet-Biedl syndrome 12 | (OMIM:615989) |
Bardet-Biedl syndrome 5 | (OMIM:615983) |
Bardet-Biedl syndrome 6 | (OMIM:605231) |
Benign recurrent intrahepatic cholestasis | (Orphanet:65682) |
Beta-mannosidosis | (Orphanet:118) |
Beta-thalassemia major | (Orphanet:231214) |
Biotinidase deficiency | (Orphanet:79241) |
Blepharonasofacial malformation syndrome | (Orphanet:1252) |
Blepharophimosis-intellectual deficit syndrome, MKB type | (Orphanet:293707) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Bohring-Opitz syndrome | (Orphanet:97297) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Brachytelephalangic chondrodysplasia punctata | (Orphanet:79345) |
Branchio-otic syndrome | (Orphanet:52429) |
Branchiogenic deafness syndrome | (Orphanet:50815) |
Brittle cornea syndrome | (Orphanet:90354) |
Buschke-Ollendorff syndrome | (Orphanet:1306) |
CADASIL | (Orphanet:136) |
CAMPOMELIC DYSPLASIA | (OMIM:114290) |
CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS | (OMIM:212100) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE | (OMIM:302700) |
CEREBROOCULOFACIOSKELETAL SYNDROME 2 | (OMIM:610756) |
CHARGE syndrome | (Orphanet:138) |
CHILD syndrome | (Orphanet:139) |
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE | (OMIM:302950) |
CHST3-related skeletal dysplasia | (Orphanet:263463) |
CILIARY DYSKINESIA, PRIMARY, 2 | (OMIM:606763) |
CINCA syndrome | (Orphanet:1451) |
CLEIDOCRANIAL DYSPLASIA | (OMIM:119600) |
COCKAYNE SYNDROME, TYPE III | (OMIM:216411) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
COFS syndrome | (Orphanet:1466) |
CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS | (OMIM:121450) |
CORNELIA DE LANGE SYNDROME 5 | (OMIM:300882) |
COWDEN SYNDROME 5 | (OMIM:615108) |
COWDEN SYNDROME 6 | (OMIM:615109) |
CRYSTALLIN, MU | (OMIM:123740) |
CYCLIC VOMITING SYNDROME | (OMIM:500007) |
Campomelic dysplasia | (Orphanet:140) |
Camptodactyly - tall stature - scoliosis - hearing loss | (Orphanet:85164) |
Camurati-Engelmann disease | (Orphanet:1328) |
Canavan disease | (Orphanet:141) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carney-Stratakis syndrome | (Orphanet:97286) |
Cat-eye syndrome | (Orphanet:195) |
Cenani-Lenz syndrome | (Orphanet:3258) |
Central nervous system calcification - deafness - tubular acidosis - anemia | (Orphanet:3240) |
Char syndrome | (Orphanet:46627) |
Charcot-Marie-Tooth disease type 1A | (Orphanet:101081) |
Charcot-Marie-Tooth disease type 4C | (Orphanet:99949) |
Charcot-Marie-Tooth disease type 4D | (Orphanet:99950) |
Chondrodysplasia with joint dislocations, gPAPP type | (Orphanet:280586) |
Cleft lip/palate - deafness - sacral lipoma | (Orphanet:2003) |
Cleidocranial dysplasia | (Orphanet:1452) |
Cochleosaccular degeneration - cataract | (Orphanet:3233) |
Cockayne syndrome | (Orphanet:191) |
Coffin-Siris syndrome | (Orphanet:1465) |
Cogan syndrome | (Orphanet:1467) |
Combined oxidative phosphorylation defect type 11 | (Orphanet:324535) |
Combined oxidative phosphorylation defect type 14 | (Orphanet:319519) |
Combined oxidative phosphorylation defect type 17 | (Orphanet:369913) |
Congenital cataract-hearing loss-severe developmental delay syndrome | (Orphanet:300313) |
Congenital hereditary facial paralysis with variable hearing loss | (Orphanet:306530) |
Congenital hypothyroidism | (Orphanet:442) |
Congenital non-bullous ichthyosiform erythroderma | (Orphanet:79394) |
Congenital toxoplasmosis | (Orphanet:858) |
Congenital velopharyngeal incompetence | (Orphanet:2291) |
Connective tissue disorder due to lysyl hydroxylase-3 deficiency | (Orphanet:300284) |
Corneal dystrophy - perceptive deafness | (Orphanet:1490) |
Cowden syndrome | (Orphanet:201) |
Coxoauricular syndrome | (Orphanet:1508) |
Craniodiaphyseal dysplasia | (Orphanet:1513) |
Craniofacial-ulnar-renal syndrome | (Orphanet:293843) |
Craniosynostosis - anal anomalies - porokeratosis | (Orphanet:85199) |
Crigler-Najjar syndrome | (Orphanet:205) |
Crigler-Najjar syndrome type 1 | (Orphanet:79234) |
Crouzon disease | (Orphanet:207) |
DEAFNESS, AUTOSOMAL DOMINANT 15 | (OMIM:602459) |
DEAFNESS, AUTOSOMAL DOMINANT 2A | (OMIM:600101) |
DEAFNESS, AUTOSOMAL DOMINANT 4B | (OMIM:614614) |
DEAFNESS, AUTOSOMAL DOMINANT 51 | (OMIM:613558) |
DEAFNESS, AUTOSOMAL DOMINANT 52 | (OMIM:607683) |
DEAFNESS, AUTOSOMAL DOMINANT 54 | (OMIM:615649) |
DEAFNESS, AUTOSOMAL DOMINANT 56 | (OMIM:615629) |
DEAFNESS, AUTOSOMAL DOMINANT 58 | (OMIM:615654) |
DEAFNESS, AUTOSOMAL RECESSIVE 15 | (OMIM:601869) |
DEAFNESS, AUTOSOMAL RECESSIVE 18B | (OMIM:614945) |
DEAFNESS, AUTOSOMAL RECESSIVE 1B | (OMIM:612645) |
DEAFNESS, AUTOSOMAL RECESSIVE 20 | (OMIM:604060) |
DEAFNESS, AUTOSOMAL RECESSIVE 25 | (OMIM:613285) |
DEAFNESS, AUTOSOMAL RECESSIVE 29 | (OMIM:614035) |
DEAFNESS, AUTOSOMAL RECESSIVE 32 | (OMIM:608653) |
DEAFNESS, AUTOSOMAL RECESSIVE 6 | (OMIM:600971) |
DEAFNESS, AUTOSOMAL RECESSIVE 63 | (OMIM:611451) |
DEAFNESS, AUTOSOMAL RECESSIVE 65 | (OMIM:610248) |
DEAFNESS, AUTOSOMAL RECESSIVE 70 | (OMIM:614934) |
DEAFNESS, AUTOSOMAL RECESSIVE 74 | (OMIM:613718) |
DEAFNESS, AUTOSOMAL RECESSIVE 77 | (OMIM:613079) |
DEAFNESS, AUTOSOMAL RECESSIVE 84A | (OMIM:613391) |
DEAFNESS, AUTOSOMAL RECESSIVE 84B | (OMIM:614944) |
DEAFNESS, AUTOSOMAL RECESSIVE 86 | (OMIM:614617) |
DEAFNESS, AUTOSOMAL RECESSIVE 88 | (OMIM:615429) |
DEAFNESS, AUTOSOMAL RECESSIVE 89 | (OMIM:613916) |
DEAFNESS, AUTOSOMAL RECESSIVE 93 | (OMIM:614899) |
DEAFNESS, AUTOSOMAL RECESSIVE 96 | (OMIM:614414) |
DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES | (OMIM:300719) |
DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY | (OMIM:220300) |
DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM | (OMIM:220900) |
DEAFNESS, NEURAL, CONGENITAL MODERATE | (OMIM:221500) |
DEAFNESS, X-LINKED 6 | (OMIM:300914) |
DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE | (OMIM:223500) |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 | (OMIM:613990) |
Deafness , X-linked 1 | (OMIM:304500) |
Deafness - enamel hypoplasia - nail defects | (Orphanet:3220) |
Deafness - epiphyseal dysplasia - short stature | (Orphanet:3218) |
Deafness - intellectual deficit, Martin-Probst type | (Orphanet:85321) |
Deafness - vitiligo - achalasia | (Orphanet:3239) |
Deafness, autosomal dominant 41 | (OMIM:608224) |
Deafness-craniofacial syndrome | (Orphanet:3241) |
Diabetic embryopathy | (Orphanet:1926) |
Diastrophic dwarfism | (Orphanet:628) |
Disorder of sex development - intellectual deficit | (Orphanet:2983) |
Distal monosomy 3p | (Orphanet:1620) |
Distal monosomy 6p | (Orphanet:96125) |
Distal trisomy 14q | (Orphanet:1705) |
Duane retraction syndrome | (Orphanet:233) |
Dubowitz syndrome | (Orphanet:235) |
Dyschromatosis universalis | (Orphanet:241) |
Dyskeratosis congenita | (Orphanet:1775) |
Dysosteosclerosis | (Orphanet:1782) |
Dystrophic epidermolysis bullosa | (Orphanet:303) |
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1 | (OMIM:129900) |
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3 | (OMIM:604292) |
EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE | (OMIM:608763) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | (OMIM:601776) |
EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS | (OMIM:226950) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Ectodermal dysplasia - blindness | (Orphanet:1806) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Emanuel syndrome | (Orphanet:96170) |
Embryofetopathy due to oral anticoagulant therapy | (Orphanet:1914) |
Encephalopathy due to hydroxykynureninuria | (Orphanet:79155) |
Epidermolysis bullosa simplex with anodontia/hypodontia | (Orphanet:2325) |
Erythrokeratodermia variabilis | (Orphanet:317) |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 | (OMIM:158901) |
FANCONI ANEMIA, COMPLEMENTATION GROUP A | (OMIM:227650) |
FANCONI ANEMIA, COMPLEMENTATION GROUP C | (OMIM:227645) |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | (OMIM:227646) |
FANCONI ANEMIA, COMPLEMENTATION GROUP E | (OMIM:600901) |
FANCONI ANEMIA, COMPLEMENTATION GROUP P | (OMIM:613951) |
FEINGOLD SYNDROME 1 | (OMIM:164280) |
Fabry disease | (Orphanet:324) |
Familial amyloid polyneuropathy | (Orphanet:85447) |
Familial dementia, Danish type | (Orphanet:97346) |
Fanconi anemia | (Orphanet:84) |
Fatal infantile lactic acidosis with methylmalonic aciduria | (Orphanet:17) |
Feingold syndrome | (Orphanet:1305) |
Fetal iodine syndrome | (Orphanet:1910) |
Fetal methylmercury syndrome | (Orphanet:1917) |
Fibrodysplasia ossificans progressiva | (Orphanet:337) |
Fibrous dysplasia of bone | (Orphanet:249) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Fragile X-associated tremor/ataxia syndrome | (Orphanet:93256) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Friedreich ataxia 1 | (OMIM:229300) |
Fucosidosis | (Orphanet:349) |
GAPO syndrome | (Orphanet:2067) |
GRACILE syndrome | (Orphanet:53693) |
Galactosialidosis | (Orphanet:351) |
Gaucher disease | (Orphanet:355) |
Gaucher disease - ophthalmoplegia - cardiovascular calcification | (Orphanet:2072) |
Geleophysic dysplasia | (Orphanet:2623) |
Genitopatellar syndrome | (Orphanet:85201) |
Giant cell arteritis | (Orphanet:397) |
Glycogen storage disease due to acid maltase deficiency | (Orphanet:365) |
Glycogen storage disease due to acid maltase deficiency, late-onset | (Orphanet:420429) |
Goldenhar syndrome | (Orphanet:374) |
Gordon syndrome | (Orphanet:376) |
Growth hormone insensitivity syndrome | (Orphanet:181393) |
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 | (OMIM:616006) |
HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS | (OMIM:144300) |
HYPEROSTOSIS CORTICALIS GENERALISATA | (OMIM:239100) |
HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA | (OMIM:615266) |
HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA | (OMIM:615267) |
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA | (OMIM:615269) |
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA | (OMIM:615271) |
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA | (OMIM:244200) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hereditary acrokeratotic poikiloderma, Weary type | (Orphanet:2907) |
Hidrotic ectodermal dysplasia, Halal type | (Orphanet:1809) |
Hirschsprung disease - deafness - polydactyly | (Orphanet:2155) |
Holoprosencephaly - radial heart renal anomalies | (Orphanet:3186) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hyperostosis corticalis generalisata | (Orphanet:3416) |
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome | (Orphanet:293958) |
Hypertrichosis lanuginosa congenita | (Orphanet:2222) |
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation | (Orphanet:324525) |
Hypomyelination with atrophy of basal ganglia and cerebellum | (Orphanet:139441) |
Hypophosphatemic rickets, autosomal recessive, 2 | (OMIM:613312) |
Hypospadias - hypertelorism - coloboma and deafness | (Orphanet:157788) |
IVIC syndrome | (Orphanet:2307) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Infantile Refsum disease | (Orphanet:772) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Infantile onset spinocerebellar ataxia | (Orphanet:1186) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit, X-linked, Abidi type | (Orphanet:85273) |
Intellectual deficit, X-linked, Schimke type | (Orphanet:85285) |
Isolated CoQ-cytochrome C reductase deficiency | (Orphanet:1460) |
Isolated Klippel-Feil syndrome | (Orphanet:2345) |
Isolated brachycephaly | (Orphanet:35099) |
Isolated plagiocephaly | (Orphanet:35098) |
Joubert syndrome 21 | (OMIM:615636) |
Juvenile Paget disease | (Orphanet:2801) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KBG syndrome | (Orphanet:2332) |
KID syndrome | (Orphanet:477) |
KRABBE DISEASE | (OMIM:245200) |
Kabuki syndrome | (Orphanet:2322) |
Kearns-Sayre syndrome | (Orphanet:480) |
Kenny-Caffey syndrome | (Orphanet:2333) |
Keratoderma hereditarium mutilans | (Orphanet:494) |
Keutel syndrome | (Orphanet:85202) |
Kleefstra syndrome | (Orphanet:261494) |
Kleefstra syndrome due to 9q34 microdeletion | (Orphanet:96147) |
Kniest dysplasia | (Orphanet:485) |
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | (Orphanet:2698) |
Krabbe disease | (Orphanet:487) |
L-2-hydroxyglutaric aciduria | (Orphanet:79314) |
Langer-Giedion syndrome | (Orphanet:502) |
Lassa fever | (Orphanet:99824) |
Lathosterolosis | (Orphanet:46059) |
Leber congenital amaurosis | (Orphanet:65) |
Leber plus disease | (Orphanet:99718) |
Leigh syndrome | (Orphanet:506) |
Lethal ataxia with deafness and optic atrophy | (Orphanet:1187) |
Lhermitte-Duclos disease | (Orphanet:65285) |
Locked-in syndrome | (Orphanet:2406) |
MEIER-GORLIN SYNDROME 1 | (OMIM:224690) |
MELAS | (Orphanet:550) |
MERRF | (Orphanet:551) |
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:608716) |
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE | (OMIM:612947) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
MICROPHTHALMIA, SYNDROMIC 7 | (OMIM:309801) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | (OMIM:615157) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | (OMIM:613662) |
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY | (OMIM:616277) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MURCS association | (Orphanet:2578) |
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC | (OMIM:616040) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Mandibuloacral dysplasia with type A lipodystrophy | (Orphanet:90153) |
Marshall-Smith syndrome | (Orphanet:561) |
McCune-Albright syndrome | (Orphanet:562) |
Meniere disease | (Orphanet:45360) |
Mesomelia-synostoses syndrome | (Orphanet:2496) |
Metaphyseal chondrodysplasia, Jansen type | (Orphanet:33067) |
Metaphyseal chondrodysplasia, Schmid type | (Orphanet:174) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microcephaly - deafness - intellectual deficit | (Orphanet:2533) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Microphthalmia with linear skin defects syndrome | (Orphanet:2556) |
Microphthalmia, Lenz type | (Orphanet:568) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial DNA depletion syndrome, myopathic form | (Orphanet:254875) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Moebius syndrome | (Orphanet:570) |
Mohr-Tranebjaerg syndrome | (Orphanet:52368) |
Monosomy 22q13 | (Orphanet:48652) |
Monosomy 5p | (Orphanet:281) |
Mosaic trisomy 8 | (Orphanet:96061) |
Muckle-Wells syndrome | (Orphanet:575) |
Mucopolysaccharidosis type 1 | (Orphanet:579) |
Mucopolysaccharidosis type 2 | (Orphanet:580) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Mucopolysaccharidosis type 3 | (Orphanet:581) |
Mucopolysaccharidosis type 4 | (Orphanet:582) |
Mucopolysaccharidosis type 4A | (Orphanet:309297) |
Mucopolysaccharidosis type 4B | (Orphanet:309310) |
Mucopolysaccharidosis type 6 | (Orphanet:583) |
Mucopolysaccharidosis type 7 | (Orphanet:584) |
Multiple carboxylase deficiency | (Orphanet:148) |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | (Orphanet:300496) |
Multiple sulfatase deficiency | (Orphanet:585) |
Mycophenolate mofetil embryopathy | (Orphanet:268249) |
Myhre syndrome | (Orphanet:2588) |
Myoclonus - cerebellar ataxia - deafness | (Orphanet:2589) |
N syndrome | (Orphanet:2608) |
NARP syndrome | (Orphanet:644) |
Nager syndrome | (Orphanet:245) |
Nail-patella syndrome | (Orphanet:2614) |
Nathalie syndrome | (Orphanet:2663) |
Necrotizing encephalomyelopathy, subacute, of Leigh, adult | (OMIM:161700) |
Nephrosis - deafness - urinary tract - digital malformations | (Orphanet:2669) |
Neurofibromatosis type 1 | (Orphanet:636) |
Neurofibromatosis type 2 | (Orphanet:637) |
Neutral lipid storage disease | (Orphanet:165) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
OPTICOCOCHLEODENTATE DEGENERATION | (OMIM:258700) |
OSTEOGENESIS IMPERFECTA, TYPE III | (OMIM:259420) |
OSTEOGENESIS IMPERFECTA, TYPE IV | (OMIM:166220) |
OSTEOGENESIS IMPERFECTA, TYPE XVI | (OMIM:616229) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | (OMIM:259700) |
OTOSCLEROSIS 3 | (OMIM:608244) |
OTOSCLEROSIS 7 | (OMIM:611572) |
OTOSCLEROSIS 8 | (OMIM:612096) |
Ocular albinism with congenital sensorineural deafness | (Orphanet:352740) |
Oculo-palato-cerebral syndrome | (Orphanet:2714) |
Oculocerebral hypopigmentation syndrome, Preus type | (Orphanet:2720) |
Oculocerebrocutaneous syndrome | (Orphanet:1647) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Olivopontocerebellar atrophy - deafness | (Orphanet:2732) |
Orofaciodigital syndrome type 1 | (Orphanet:2750) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
Osteogenesis imperfecta | (Orphanet:666) |
Osteogenesis imperfecta type 1 | (Orphanet:216796) |
Osteogenesis imperfecta type 3 | (Orphanet:216812) |
Osteogenesis imperfecta type 4 | (Orphanet:216820) |
Osteopetrosis | (Orphanet:2781) |
Osteosclerosis - developmental delay - craniosynostosis | (Orphanet:178377) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 1 | (Orphanet:90650) |
Otopalatodigital syndrome type 2 | (Orphanet:90652) |
PAGET DISEASE OF BONE 1 | (OMIM:167250) |
PAGET DISEASE OF BONE 4 | (OMIM:606263) |
PELIZAEUS-MERZBACHER DISEASE | (OMIM:312080) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C | (OMIM:616081) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 | (OMIM:613077) |
PULMONIC STENOSIS AND DEAFNESS | (OMIM:178651) |
Palmoplantar keratoderma-deafness syndrome | (Orphanet:2202) |
Partial acquired lipodystrophy | (Orphanet:79087) |
Pelizaeus-Merzbacher disease | (Orphanet:702) |
Pelvis-shoulder dysplasia | (Orphanet:2839) |
Perinatal lethal hypophosphatasia | (Orphanet:247623) |
Perrault Syndrome | (Orphanet:2855) |
Pfeiffer syndrome type 1 | (Orphanet:93258) |
Pfeiffer syndrome type 3 | (Orphanet:93260) |
Piebald trait - neurologic defects | (Orphanet:2885) |
Piebaldism | (Orphanet:2884) |
Pili torti | (Orphanet:2889) |
Polyarteritis nodosa, childhood-onset | (OMIM:615688) |
Polyostotic fibrous dysplasia | (Orphanet:93276) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Progeria - short stature - pigmented nevi | (Orphanet:2959) |
Prolidase deficiency | (Orphanet:742) |
Proteus-like syndrome | (Orphanet:2969) |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | (Orphanet:3390) |
RAPADILINO syndrome | (Orphanet:3021) |
RAPP-HODGKIN SYNDROME | (OMIM:129400) |
RETINAL VENOUS BEADING | (OMIM:180080) |
Ramon syndrome | (Orphanet:3019) |
Rasmussen-Johnsen-Thomsen syndrome | (Orphanet:3023) |
Recessive dystrophic epidermolysis bullosa inversa | (Orphanet:79409) |
Recombinant 8 syndrome | (Orphanet:96167) |
Renal coloboma syndrome | (Orphanet:1475) |
Renal cysts and diabetes syndrome | (Orphanet:93111) |
Renal tubulopathy - encephalopathy - liver failure | (Orphanet:254902) |
Renal-genital-middle ear anomalies | (Orphanet:1092) |
Renpenning syndrome | (Orphanet:3242) |
Reticular dysgenesis | (Orphanet:33355) |
Richards-Rundle syndrome | (Orphanet:1399) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rubinstein-Taybi syndrome | (Orphanet:783) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SCLEROSTEOSIS 2 | (OMIM:614305) |
SEBASTIAN SYNDROME | (OMIM:605249) |
Saethre-Chotzen syndrome | (Orphanet:794) |
Sandhoff disease | (Orphanet:796) |
Sanfilippo syndrome type A | (Orphanet:79269) |
Sanfilippo syndrome type B | (Orphanet:79270) |
Sanfilippo syndrome type C | (Orphanet:79271) |
Sanfilippo syndrome type D | (Orphanet:79272) |
Sclerosteosis | (Orphanet:3152) |
Severe Canavan disease | (Orphanet:314911) |
Severe X-linked intellectual deficit, Gustavson type | (Orphanet:3078) |
Severe combined immunodeficiency due to adenosine deaminase deficiency | (Orphanet:277) |
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia | (Orphanet:632) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Sinoatrial node dysfunction and deafness | (Orphanet:324321) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Smith-Magenis syndrome | (Orphanet:819) |
Sneddon syndrome | (Orphanet:820) |
Spastic paraparesis - deafness | (Orphanet:2815) |
Spastic tetraplegia - retinitis pigmentosa - intellectual deficit | (Orphanet:3011) |
Split hand-split foot malformation | (Orphanet:2440) |
Spondyloepiphyseal dysplasia congenita | (Orphanet:94068) |
Stern-Lubinsky-Durrie syndrome | (Orphanet:3194) |
Stickler syndrome | (Orphanet:828) |
Symphalangism with multiple anomalies of hands and feet | (Orphanet:3246) |
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE | (OMIM:274300) |
TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS | (OMIM:275230) |
TUNE DEAFNESS | (OMIM:191200) |
Tay-Sachs disease | (Orphanet:845) |
Tetrasomy 12p | (Orphanet:884) |
Thalidomide embryopathy | (Orphanet:3312) |
Thanatophoric dysplasia | (Orphanet:2655) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Thanatophoric dysplasia type 2 | (Orphanet:93274) |
Tietz syndrome | (Orphanet:42665) |
Toriello-Carey syndrome | (Orphanet:3338) |
Townes-Brocks syndrome | (Orphanet:857) |
Transketolase deficiency | (ORPHA:488618) |
Trisomy 17p | (Orphanet:261290) |
USHER SYNDROME, TYPE ID | (OMIM:601067) |
USHER SYNDROME, TYPE IID | (OMIM:611383) |
USHER SYNDROME, TYPE IIIB | (OMIM:614504) |
Upper limb defect - eye and ear abnormalities | (Orphanet:2489) |
Viral hemorrhagic fever | (Orphanet:341) |
Von Hippel-Lindau disease | (Orphanet:892) |
W syndrome | (Orphanet:2804) |
Waardenburg syndrome | (Orphanet:3440) |
Waardenburg syndrome type 1 | (Orphanet:894) |
Waardenburg syndrome type 2 | (Orphanet:895) |
Waardenburg syndrome type 3 | (Orphanet:896) |
Waardenburg-Shah syndrome | (Orphanet:897) |
Waldenström macroglobulinemia | (Orphanet:33226) |
Warsaw breakage syndrome | (Orphanet:280558) |
Weaver-Williams syndrome | (Orphanet:3448) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wildervanck syndrome | (Orphanet:3456) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wolfram syndrome 1 | (OMIM:222300) |
Wolfram syndrome 2 | (OMIM:604928) |
Wolfram syndrome, mitochondrial form | (OMIM:598500) |
Woodhouse-Sakati syndrome | (Orphanet:3464) |
Wyburn-Mason syndrome | (Orphanet:53719) |
X-linked Charcot-Marie-Tooth disease type 1 | (Orphanet:101075) |
X-linked Charcot-Marie-Tooth disease type 4 | (Orphanet:101078) |
X-linked Charcot-Marie-Tooth disease type 5 | (Orphanet:99014) |
X-linked cerebral adrenoleukodystrophy | (Orphanet:139396) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked hereditary sensory and autonomic neuropathy with deafness | (Orphanet:139583) |
X-linked hypophosphatemia | (Orphanet:89936) |
X-linked mandibulofacial dysostosis | (Orphanet:1131) |
XFE PROGEROID SYNDROME | (OMIM:610965) |
XYLOSIDASE DEFICIENCY | (OMIM:278900) |
Xeroderma pigmentosum | (Orphanet:910) |
Xeroderma pigmentosum complementation group F | (Orphanet:276264) |
Xeroderma pigmentosum/Cockayne syndrome complex | (Orphanet:220295) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zimmermann-Laband syndrome | (Orphanet:3473) |
Zunich-Kaye syndrome | (Orphanet:3474) |