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GENATLAS PHENOTYPE

last update : 27-11-2018

Symbol	MACID
Location	9p22.3
Name	Macrocephaly, acquired, with impaired intellectual development
Corresponding gene	NFIB
Main clinical features	mild intellectual disability or learning disability and speech delay; also motor delay and muscular hypotonia associated to macrocephaly attention deficit disorder and variable behavioral anomalies including autistic behavior, anxiety, psychotic episodes, and aggression often associated brain imaging, including dysgenesis of the corpus callosum as the most common
Genetic determination	autosomal dominant
	other
Function/system disorder	mental retardation
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		haploinsufficiency

Remark(s)