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last update : 25-10-2019
Symbol ACOGS
Location 18q12.1
Name ACOG syndrome (agenesis of corpus callosum, axon pathfinding, cardiac, ocular, and genital defects)
Corresponding gene CDH2
Main clinical features
  • syndromic neurodevelopmental disorder with global developmental delay (GDD) and/or ID; corpus callosum agenesis or hypoplasia; craniofacial dysmorphisms; and ocular, cardiac, and genital anomalies
  • also Duane anomaly, craniofacial dysmorphic features : prominent forehead and frontal bossing, downslanting palpebral fissures, a thin upper lip, and low-set and thick helices, cryptorchidism, cardiac anomalies
  • Genetic determination not applicable
    Function/system disorder neurology
    mental retardation
    Type disease
    Remark(s) . de novo heterozygous variants in CDH2 impair the adhesive activity of N-cadherin, resulting in a multisystemic developmental disorder