Term Name: hypomyelinating leukodystrophy 20
Synonyms: HLD20
Definition: A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.
Ontology: Human Disease [DOID:0112153]   ( DOID:0112153 )

Relationships
is a type of: autosomal recessive disease hypomyelinating leukodystrophy