label: Hypomyelinating Leukodystrophy-7
label_lc: hypomyelinating leukodystrophy-7
description: 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.