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GENATLAS PHENOTYPE
last update : 21-08-2015
Symbol ICS32
Location 1q41
Name immotile cilia syndrome 32
Corresponding gene CENPF
Other symbol(s) CILD31
Main clinical features
  • hydrocephalus, cerebellar hypoplasia, agenesis of the corpus callosum, duodenal atresia, gastrointestinal malrotation, and renal hypodysplasia with abnormal craniofacial features
  • moderate form with microcephaly and mild to moderate learning disabilities
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    digestive tract/gastrointestinal
    Type disease
    Remark(s)