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myoclonus, intractable, neonatal

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy.
Mondo Term and Equivalent IDs
MONDO:0014979:  myoclonus, intractable, neonatal
UMLS:C4310658: