Human genes for Neu-Laxova syndrome 2
Neu-Laxova syndrome 2 [DOID:0080075]
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: Neu-Laxova syndrome 2, DOID:0080075, NeuLaxova syndrome 2