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GENATLAS PHENOTYPE

last update : 29-08-2023

Symbol	NEIMY
Location	12q13.3
Name	myoclonus, intractable, neonatal
Corresponding gene	KIF5A
Main clinical features	severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth, with intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress brain imaging shows a progressive leukoencephalopathy early death
Genetic determination	autosomal dominant
Function/system disorder	multisystem/generalized
	neurology
Type	disease

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