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GENATLAS PHENOTYPE
last update : 3/05/2006
Symbol DEL14QD
Location 14q32
Name chromosome 14q terminal deletion
Other name(s) 14q monosomy
Corresponding gene CRIP2 , MTA1 , TMEM121
Other symbol(s) RG14
Main clinical features
  • specific dysmorphic face with microcephaly, a high and prominent forehead with lateral hypertrichosis, blepharophimosis, epicanthic folds, a broad and flat nasal bridge, a short bulbous nose, a broad philtrum, a thin upper lip, a small and carp-shaped mouth, a highly arched palate, an abnormal dentition, low-set ears with malformed helices and micrognathia, single palmar creases ;
  • genitourinary malformations, ocular coloboma, microcephaly, congenital heart defect, intellectual disability/developmental delay, muscular hypotonia, postnatal
  • growth retardation
  • major congenital malformations are rare except for congenital heart defects
  • one case reported with autism
  • Genetic determination chromosomal
    Prevalence ~20 cases described
    Related entries RG14
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   visible or cryptic deletion
      deletion haploinsufficiency a 250 kb phenocritical region which contains only seven RefSeq genes amongst them three potential candidate genes for intellectual disability: CRIP2, MTA1, and TMEM121 PMID: 22367666
    Remark(s) terminal linear 14q deletions are rarer than terminal deletions due to ring formation
    Genotype/Phenotype correlations in addition to other features, seizures and retinitis pigmentosa have been found only in patients with ring 14 chromosomes