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GENATLAS PHENOTYPE
last update : 01-02-2011
Symbol DUP14QP
Location 14q11.2q13.1
Name chromosome 14q proximal duplication
Corresponding gene FOXG1
Main clinical features
  • idiopathic developmental delay and cognitive impairment, severe speech delay, and developmental epilepsy ( PMID: 20736978)).
  • West syndrome
    • Genetic determination chromosomal
    Function/system disorder neurology
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication   a 4.45 Mb microduplication in chromosome band 14q12 including FOXG1
      duplication   variable size
    Remark(s)