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GENATLAS PHENOTYPE

last update : 26-11-2019

Symbol	MCLIS1
Location	10q26.3
Name	microcephaly with lissencephaly 1
Corresponding gene	TUBGCP2
Main clinical features	microcephaly and developmental delay; at MRI, varying degrees of cortical malformations including pachygyria and subcortical band heterotopia, thin corpus callosum, cerebellar volume loss speech delay and dyslexia, truncal hypotonia, motor developmental delay, seizures, and micrognathia
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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