Human genes for hypomyelinating leukodystrophy 10
Hypomyelinating leukodystrophy 10 [DOID:0060788]
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42.
Synonyms: hypomyelinating leukodystrophy 10, DOID:0060788, HLD10