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 ) |