Term Name: hypermanganesemia with dystonia 2
Synonyms:
Definition: A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21.
Ontology: Human Disease [DOID:0080537]   ( DOID:0080537 )

Relationships
is a type of: hypermanganesemia with dystonia