Visualize Submit Comment

Metadata
ID	DOID:0060792
Name	hypomyelinating leukodystrophy 11
Definition	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/26151409
Xrefs	ICD10CM:G11.1 MIM:616494
Synonyms	HLD11 [EXACT]
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance