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GENATLAS PHENOTYPE

last update : 26-04-2023

Symbol	PFM1
Location	11p11.2
Name	parietal foramina permagna 1
Other name(s)	parietal foramina, symmetric catlin marks cranium bifidum occultum, hereditary
Corresponding gene	ALX4
Other symbol(s)	FBMR, FPP
Main clinical features	skull vault defect, with enlarged parietal foramina and cranium bifidum
Genetic determination	autosomal dominant
Related entries	EXT2, DEL11PP
Function/system disorder	osteo-articular
Type	MCA/MR

Gene product

Name	aristaless-like homeobox 4

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	disruption of protein stability, DNA binding or nuclear localization

Remark(s)

component of Potocki-Shaffer syndrome