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GENATLAS PHENOTYPE

last update : 16-11-2022

Symbol	NDPLHS
Location	9q22.33
Name	neurodevelopmental disorder with poor language and loss of hand skills
Corresponding gene	GABBR2
Main clinical features	developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability also stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet mimicking atypical Rett syndrome
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

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