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

• OMIM:616881

Ontology

Human Disease   ( DOID:0060795 )