Metadata | |
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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 |