Leukodystrophy, Hypomyelinating, 4 (HLD4)

Leukodystrophy, Hypomyelinating, 4, also known as mitochondrial hsp60 chaperonopathy, is related to pelizaeus-merzbacher-like disease and spastic paraplegia 13, autosomal dominant, and has symptoms including apnea, seizures and shallow breathing. An important gene associated with Leukodystrophy, Hypomyelinating, 4 is HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1). Affiliated tissues include brain and peripheral nerve, and related phenotypes are hyperreflexia and hypotonia