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GENATLAS PHENOTYPE

last update : 18-06-2014

Symbol	NELAS
Location	1p12
Name	Neu-Laxova syndrome
Corresponding gene	PHGDH
Other symbol(s)	NLS
Main clinical features	lethal multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, central nervous system anomalies (lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum), limb deformities, hypoplastic lungs lethal dysplasia-malformation syndrome with abnormalities of placentation, severe intrauterine growth retardation, edema, ectodermal dysplasia
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	dermatology
	neurology
	osteo-articular
Type	disease

Remark(s)

serine depletion in NELAS and the encouraging results of serine supplementation to treat individuals with PHGDH deficiency raise interesting possibilities about the potential benefit of serine supplementation during pregnancy to treat NELAS or at least mitigate the severity of its associated developmental defects