Term Name: dystonia 37, early-onset with striatal lesions
Synonyms:
Definition: A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21.
Ontology: Human Disease [DOID:0060956]   ( DOID:0060956 )

Relationships
is a type of: autosomal recessive disease dystonia