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GENATLAS PHENOTYPE

last update : 06-10-2014

Symbol	NELAS2
Location	9q21.31
Name	Neu-Laxova syndrome 2
Corresponding gene	PSAT1
Main clinical features	characteristic facies with shortened eyelids, proptosis, and a round gaping mouth, as well as microcephaly, intrauterine growth restriction (IUGR), skin abnormalities (ichthyosis and hyperkeratosis), and flexion deformities, mental retardation also limb malformations and significant edema of the hands and feet, CNS malformations, such as abnormal gyration, hypoplasia of the corpus callosum, or neural-tube defects
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	osteo-articular
	dermatology
Type	disease

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