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GENATLAS PHENOTYPE

last update : 16-11-2021

Symbol	NDHSAL
Location	2q32.3
Name	neurodevelopmental disorder with hypotonia, seizures, and absent language
Corresponding gene	HECW2
Main clinical features	severe developmental delay, absent speech, epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, and macrocephaly
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)