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GENATLAS PHENOTYPE
last update : 26/07/2006
Symbol DEL18P
Location 18p11.31
Name chromosome 18p complete or partial deletions
Other name(s) monosomy 18p,18p- syndrome, del(18p) syndrome
Corresponding gene TGIF1
Main clinical features
  • short stature, variable degrees of mental retardation, speech delay, hypotonia, IgA deficiency
  • broad flat nose, carp-shaped mouth, large protruding ears, epicanthal folds, ptosis
  • other common findings are a short, webbed neck, a broad chest with widely spaced nipples, relatively small hands and feet, small penis and/or cryptorchidism, dystonia in some older patients
  • in about 15 percent of cases, severe holoprosencephaly usually lethal
  • Genetic determination chromosomal
    Prevalence more than 100 cases reported, female to male ratio 2/1
    Related entries HPE4, TGIF
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency breakpoint at 18p11.1 or 18p11.2
    Remark(s)