Hypomyelinating Leukodystrophy-7

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - HLD7