Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 27-10-2011

Symbol	MGORS1
Location	1p32.3
Name	Meier-Gorlin syndrome 1
Corresponding gene	ORC1
Main clinical features	severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

. ORC1 mutations impair replication licensing, slowing cell cycle progression and consequently impeding growth during development, particularly at times of rapid proliferation (PMID: 21358633))