| Term Name: | hypomyelinating leukodystrophy 10 |
|---|---|
| Synonyms: | HLD10 |
| Definition: | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. |
| Ontology: | Human Disease [DOID:0060788] ( DOID:0060788 ) |