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myoclonus, familial, 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.
Uniprot Description An autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness.
Mondo Term and Equivalent IDs
MONDO:0100093:  myoclonus, familial, 1