Preferred Label : Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses;
Type : Other, mainly phenotypes with suspected mendelian basis;
Prefixed ID : 300184;
Origin ID : 300184;
UMLS CUI : C1970936;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)