Neu-Laxova syndrome 2

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: psat1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014466 - Neu-Laxova syndrome 2

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)