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GENATLAS PHENOTYPE
last update : 12-09-2016
Symbol IDFH
Location 2p16.1
Name intellectual developmental disorder with persistence of fetal hemoglobin
Corresponding gene BCL11A
Main clinical features
  • delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF)
  • cognitive dysfunction varied from mild to severe, and about 30p100 of patients had autism spectrum disorder with variable dysmorphic features, including joint laxity , strabismus, microcephaly , downslanting palpebral fissures, thin upper lip, everted lower lip, flat midface, small nares, and external ear abnormalities
    • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease
    Remark(s)
  • three missense mutations identified in affected individuals are associated with persistence of HbF and show consistent deleterious effects on multiple aspects of BCL11A molecular function, including localization, dimerization, and transcriptional regulatory activity (PMID: 27453576))