Neu-Laxova syndrome 2

Definition

Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.

Also known as Neu-Laxova syndrome 2, Neu-Laxova syndrome caused by mutation in PSAT1, Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency, Neu-Laxova syndrome type 2, phosphoserine aminotransferase deficiency, prenatal form, PSAT1 Neu-Laxova syndrome — per MONDO

Also identified as

• DOID 0080075 per MONDO
• OMIM 616038 per MONDO
• Orphanet 583602 per MONDO
• UMLS C4015019 per MONDO