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GENATLAS PHENOTYPE

last update : 04-01-2022

Symbol	NDDEDV
Location	10q11.23
Name	neurodevelopmental delay, epilepsy, deafness, visual defect
Corresponding gene	OGDHL
Main clinical features	epilepsy, gait ataxia, hearing loss, visual impairment, malformations of cortical development, microcephaly, hypoplastic corpus callosum, and dysmorphic signs mitochondrial disease with mainly neurological phenotypes
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
	ear
	eye
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/loss of function

Remark(s)