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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

OMIM:616881

Synonyms

HLD13 [EXACT]

Parent Relationships

is_a hypomyelinating leukodystrophy

is_a autosomal recessive disease

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