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Summary Literature (0)
DOID:0080075 - Neu-Laxova syndrome 2


Disease Ontology Definition:A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine.

Synonyms:

Xenbase Genes : psat1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014466 - Neu-Laxova syndrome 2


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): serine deficiency (is_a)