Term Name: hypermanganesemia with dystonia 1
Synonyms:
Definition: A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41.
Ontology: Human Disease [DOID:0080536]   ( DOID:0080536 )

Relationships
is a type of: hypermanganesemia with dystonia