Term Name: hypomyelinating leukodystrophy 25
Synonyms: HLD25
Definition: A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21.
Ontology: Human Disease [DOID:0070401]   ( DOID:0070401 )

Relationships
is a type of: autosomal dominant disease hypomyelinating leukodystrophy