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GENATLAS PHENOTYPE

last update : 4/09/2006

Symbol	PPMX
Location	Xq28
Name	mental retardation with manic-depressive psychosis, pyramidal signs, and macroorchidism
Other name(s)	methyl CpG binding protein 2
Corresponding gene	MECP2
Main clinical features	parkinsonian features
Genetic determination	sex linked
Function/system disorder	mental retardation
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown			A140V, hot spot of mutation resulting in moderate to severe MR in males