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GENATLAS PHENOTYPE

last update : 15-09-2021

Symbol	NEDHYBA
Location	4q33
Name	neurodevelopmental disorder with hypotonia and brain abnormalities
Corresponding gene	CLCN3
Main clinical features	characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood, also feeding difficulties, seizures, behavioral abnormalities, and nonspecific dysmorphic facial features brain imaging shows variable abnormalities, including corpus callosum defects, cerebellar defects, and decreased white matter volume
Genetic determination	autosomal dominant
Function/system disorder	neurology
	mental retardation
Type	disease

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