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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

OMIM:616420

Synonyms

HLD10 [EXACT]

Parent Relationships

is_a hypomyelinating leukodystrophy

is_a autosomal recessive disease

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