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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:
Echinobase Genes
:
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
serine deficiency (is_a)