Preferred Label : Hypomyelinating Leukodystrophy-7;
NCIt synonyms : HLD7;
NCIt definition : An autosomal recessive condition caused by mutation(s) in the POLR3A gene, encoding
DNA-directed RNA polymerase III subunit RPC1. It is characterized by neurological,
dental, ophthalmological, and endocrine alterations, including cognitive impairment,
ataxia, hypogonadotropic hypogonadism, and eye abnormalities.;
Origin ID : C210817;
Has associated anatomic sites
- concept_is_in_subset
- disease_has_finding
