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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