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Human Disease
hypomyelinating leukodystrophy 10
- Term ID
- DOID:0060788
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0060788 )
- is a type of
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