Term Name: hypomyelinating leukodystrophy 16
Synonyms: HLD16
Definition: A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21.
Ontology: Human Disease [DOID:0070405]   ( DOID:0070405 )

Relationships
is a type of: autosomal dominant disease hypomyelinating leukodystrophy