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Human Disease

hypomyelinating leukodystrophy 13

Term ID
DOID:0060795
Synonyms
  • HLD13
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
References
Ontology
Human Disease   ( DOID:0060795 )
Relationships
is a type of
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Genes Involved
Zebrafish Models