Term Name: | hypomyelinating leukodystrophy 10 |
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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 ) |