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GENATLAS PHENOTYPE

last update : 18-10-2017

Symbol	MCACCH
Location	7p22.1
Name	microcephaly, cerebellar abnormalities, corpus callosum hypoplasia
Other name(s)	Mental retardation, autosomal dominant 48
Corresponding gene	RAC1
Other symbol(s)	MRD48
Main clinical features	facial dysmorphism and brain abnormalities, cerebellar abnormalities, corpus callosum hypoplasia, mental retardation arched eyebrows, dysplastic ears, prominent nasal bridge, and overhanging columella at brain MRI, dysgenetic vermis, enlarged cisterna magna, hypoplastic cerebellar vermis, slightly enlarged lateral ventricles (middle), hypoplastic corpus callosum moderate to severe intellectual disability and variable degrees of neurological involvement including hypotonia, epilepsy, behavioral problems, and stereotypic movements
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

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