label: Hypomyelinating Leukodystrophy-22
label_lc: hypomyelinating leukodystrophy-22
description: An autosomal dominant condition caused by mutation(s) in the CLDN11 gene, encoding claudin-11.  It is characterized by global developmental delay, mild impaired intellectual development, limited ability to walk, and hypomyelinating leukodystrophy on MRI.