Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 01-12-2020

Symbol	NEDVIBA
Location	10q22.1
Name	neurodevelopmental disorder with visual defects and brain anomalies
Corresponding gene	HK1
Main clinical features	global developmental delay with impaired intellectual development and speech delay, variable visual defects, including retinitis pigmentosa and optic atrophy, hypotonia or hypertonia, and variable structural brain abnormalities brain imaging showed variable abnormalities, cerebral and cerebellar atrophy, thin corpus callosum, periventricular leukomalacia, brainstem abnormalities, and enlarged ventricles
Genetic determination	autosomal dominant
Function/system disorder	eye
	neurology
Type	disease

Remark(s)