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Metadata
ID	DOID:0060795
Name	hypomyelinating leukodystrophy 13
Definition	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. https://www.ncbi.nlm.nih.gov/pubmed/26545878
Xrefs	MIM:616881
Synonyms	HLD13 [EXACT]
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance