Term Name: hypomyelinating leukodystrophy 10
Synonyms: HLD10
Definition: 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.
Ontology: Human Disease [DOID:0060788]   ( DOID:0060788 )

Relationships
is a type of: autosomal recessive disease hypomyelinating leukodystrophy