| Metadata | |
|---|---|
| ID | DOID:0060788 |
| Name | hypomyelinating leukodystrophy 10 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/25865492, https://www.ncbi.nlm.nih.gov/pubmed/27130255 |
| Xrefs | |
| Synonyms |
HLD10 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |