Human genes for hypomyelinating leukodystrophy 13
Hypomyelinating leukodystrophy 13 [DOID:0060795]
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.
Synonyms: hypomyelinating leukodystrophy 13, DOID:0060795, HLD13