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GENATLAS PHENOTYPE
last update : 01-03-2017
Symbol IDDDFP
Location 3p25.3
Name intellectual developmental disorder with dysmorphic facies and ptosis
Corresponding gene BRPF1
Main clinical features
  • intellectual developmental disorder with dysmorphic facies and ptosis, characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis
  • most patients had hypotonia and delayed gross and fine motor skills with delayed walking, seizures,and abnormal EEG
  • brain imaging, showed abnormalities including white matter abnormalities, decreased white matter volume suggesting abnormal myelination, and thin corpus callosum
    • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)
  • mutation in the chromatin regulator gene BRPF1 cause histone H3 acetylation deficiency and a intellectual disability syndrome (PMID: 27939640))