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GENATLAS PHENOTYPE

last update : 07-06-2023

Symbol	NDCFL
Location	2p11.2
Name	neurodevelopmental abnormalities and structural cardiac defects, with craniofacial anomalies and variable limb defects
Corresponding gene	POLR1A
Main clinical features	structural cardiac defects, in combination with highly prevalent craniofacial anomalies and variable limb defects hypertelorism, micrognathia, developmental delay, congenital heart disease, also neurologic abnormalities, epilepsy
Genetic determination	not applicable
Function/system disorder	cardiovascular
	mental retardation
	neurology
Type	MCA/MR

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