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GENATLAS PHENOTYPE

last update : 23-06-2020

Symbol	NS10
Location	22q11.21
Name	Noonan syndrome 10
Corresponding gene	LZTR1
Main clinical features	short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects downslanting palpebral fissures, hypertelorism, ptosis, and short neck, and cardiac abnormalities, mainly pulmonary stenosis and mitral valve defect
Genetic determination	autosomal dominant
	autosomal recessive
Related entries	including autosomal recessive Noonan syndrome form (PMID: 605275)
Function/system disorder	cardiovascular
	mental retardation
Type	disease

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