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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
Subsets	DO_rare_slim
Synonyms	HLD9 [EXACT] RARS-related autosomal recessive hypomyelinating leukodystrophy [EXACT]
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease