Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 02-11-2011

Symbol	DEL2P25
Location	2p25pter
Name	chromosome 2p distal deletion
Other name(s)	monosomy 2pter, subtelomeric 2p deletion
Corresponding gene	MYT1L
Main clinical features	depending on breakpoints a ~1 Mb deletion encompassing SOX11, with autism, moderate mental retardation, secondary microcephaly, agenesis of right optic nerve and dysmorphic features (Lo Castro 2009) talipes equinovarus, pulmonary valve stenosis and nasal polyps, overeating behaviour with obesity (Becker 2010) ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features PMID: 21990140
Genetic determination	chromosomal
Function/system disorder
Type	MCA/MR

Remark(s)