Term Name: congenital hypomyelinating neuropathy 2
Synonyms: CHN2
Definition: A congenital hypomyelinating neuropathy that has_material_basis_in heterozygous mutation in the MPZ gene on chromosome 1q23.
Ontology: Human Disease [DOID:0070679]   ( DOID:0070679 )

Relationships
is a type of: autosomal dominant disease congenital hypomyelinating neuropathy