hypomyelinating leukodystrophy 22 (DOID:0070402)
Alliance: disease page
Synonyms: HLD22
Alt IDs: OMIM:619328
Definition: A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26.