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GENATLAS PHENOTYPE

last update : 26/06/2006

Symbol	DUP3QD
Location	3q26.31
Name	chromosome 3q distal duplication, including 3q26-q27
Other name(s)	duplication 3q syndrome Cornelia de Lange-like syndrome
Corresponding gene	NAALADL2
Other symbol(s)	CDLL, CDLSL
Main clinical features	hirsutism, synophrys, broad nasal root, anteverted nares, down-turned corners of the mouth, malformed ears, congenital heart defect, genito urinary malformations and mental and growth retardation Cornelia de Lange-like syndrome
Genetic determination	chromosomal
Function/system disorder	multisystem/generalized
	mental retardation
Type	MCA/MR

Remark(s)

Genotype/Phenotype correlations

phenotypic overlap between the duplication 3p syndrome and mild CdLS