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GENATLAS PHENOTYPE

last update : 09-01-2010

Symbol	MORM
Location	9q34.3
Name	MORM syndrome
Corresponding gene	INPP5E
Main clinical features	moderate mental retardation, truncal obesity, congenital non progressive retinal dystrophy and micropenis in males
Genetic determination	autosomal recessive
Function/system disorder	multisystem/generalized
Type	MCA/MR

Remark(s)

a single unreported change, c.1879C>T in the terminal exon of INPP5E, predicted to cause premature truncation of the protein with the omission of the terminal 18 amino acids and thus causes loss of the C-terminal CaaX domain (Jacoby 2009)