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DO Term : hypomyelinating leukodystrophy 9 [DOID:0060791] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • HLD9,
  • OMIM:616140,
  • 616140,
  • ICD10CM:E75.2,
  • ORDO:438114,
  • RARS-related autosomal recessive hypomyelinating leukodystrophy
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