Neu-Laxova syndrome 2

Term ID

DOID:0080075

Synonyms

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. https://www.omim.org/entry/616038

References

• MIM:616038

Ontology

Human Disease   ( DOID:0080075 )