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GENATLAS PHENOTYPE

last update : 4/01/2006

Symbol	DUP1P36
Location	1p36.3
Name	chromosome 1p subtelomeric duplication
Other name(s)	partial trisomy 1p36
Main clinical features	metopic synostosis, microcephaly, atrial septal defect, rectal stenosis, delayed gross motor development
Genetic determination	chromosomal
Prevalence	<5 cases reported
Function/system disorder	multisystem/generalized
	mental retardation
Type	MCA/MR

Gene product

Name	MMP23 is a candidate gene for craniosynostosis opposite to the large, late closing anterior fontanels observed in del1p36