Term Name: hypomyelinating leukodystrophy 22
Synonyms: HLD22
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.
Ontology: Human Disease [DOID:0070402]   ( DOID:0070402 )

Relationships
is a type of: autosomal dominant disease hypomyelinating leukodystrophy