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Metadata
ID DOID:0060791
Name hypomyelinating leukodystrophy 9
Definition A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34.
https://www.ncbi.nlm.nih.gov/pubmed/24777941
Xrefs

ICD10CM:E75.2

OMIM:616140

ORDO:438114

Synonyms

HLD9 [EXACT]

RARS-related autosomal recessive hypomyelinating leukodystrophy [EXACT]

Parent Relationships

is_a hypomyelinating leukodystrophy

is_a autosomal recessive disease

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