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GENATLAS PHENOTYPE

last update : 26-04-2023

Symbol	NNL4
Location	2p14
Name	Noonan-like 4
Other name(s)	Noonan syndrome 14
Corresponding gene	SPRED2
Other symbol(s)	NS14
Main clinical features	Facial features mimicking Noonan, bitemporal narrowing, hypertelorism, down-slanting palpebral fissures, ptosis, low-set/posteriorly rotated ears with evident antitragus, wide nasal bridge, and low posterior hairline with a webbed/short neck also typical chest anomalies (superior pectus carinatum and inferior pectus excavatum), congenital heart defect, growth retardation, hypotonia was a common feature during childhood
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	osteo-articular
Type	disease

Remark(s)

. bi-allelic SPRED2 variants result in inactive proteins unable to efficiently downmodulate signal flow through the RAS-MAPK cascade (PMID:34626534))