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Metadata
ID DOID:0060786
Name hypomyelinating leukodystrophy
Definition A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging.
https://pubmed.ncbi.nlm.nih.gov/24916848/, https://pubmed.ncbi.nlm.nih.gov/25649058/, https://pubmed.ncbi.nlm.nih.gov/27234264/
Xrefs

OMIM:PS312080

Synonyms

HLD [EXACT]

Parent Relationships

is_a leukodystrophy

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