Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 03-12-2009

Symbol	PMGOH
Location	22q11
Name	polymicrogyria with optic nerve hypoplasia
Corresponding gene	TUBA8
Main clinical features	malformation of the cerebral cortex in which the usual gyral pattern is replaced by numerous small infoldings, separated by sulci, which fuse inferiorly, reflecting abnormal late neuronal migration and cortical organization severe developmental delay, hypotonia, and seizures
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)