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References OMIM Gene GeneReviews HGMD HGNC
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