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Metadata
ID	DOID:0070407
Name	hypomyelinating leukodystrophy 21
Definition	A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. https://pubmed.ncbi.nlm.nih.gov/30584594/
Xrefs	MIM:619310
Synonyms	HLD21 [EXACT]
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance