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GENATLAS PHENOTYPE
last update : 20-02-2018
Symbol GDACCF
Location 3q21.2
Name global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Corresponding gene ZNF148
Main clinical features
  • intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech
  • brain imaging shows aplasia or hypoplasia of the corpus callosum
  • associated with frequent dysplastic, cystic kidneys or mild cardiac defects, short stature, feeding problems, facial dysmorphisms
  • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    cardiovascular
    mental retardation
    neurology
    Type disease
    Remark(s)