cataract-ataxia-deafness syndrome
http://purl.obolibrary.org/obo/MONDO_0008928
Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. [ Orphanet:1368 ]
Term info
- MESH:C538283 (Orphanet:1368/e)
- UMLS:C0796123 (Orphanet:1368/e)
- Orphanet:1368 (OMIM:212710)
- OMIM:212710 (Orphanet:1368/e)
- GARD:0001141 (MONDO:equivalentTo)
ordo_disease
Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
http://identifiers.org/mesh/C538283, https://omim.org/entry/212710, http://purl.obolibrary.org/obo/Orphanet_1368, http://linkedlifedata.com/resource/umls/id/C0796123
Begeer syndrome, cataract ataxia deafness, polyneuropathy, cataract, deafness syndrome, polyneuropathy-cataract-deafness syndrome, cataract-ataxia-deafness-retardation syndrome, cataract ataxia deafness syndrome
MONDO:0008928