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GENATLAS PHENOTYPE

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
	eye
	sex-genitalia
Type	disease

Remark(s)

. de novo heterozygous variants in CDH2 impair the adhesive activity of N-cadherin, resulting in a multisystemic developmental disorder