Neu-Laxova syndrome 2
MONDO:0014466Mondo
Findings
No curated finding names Neu-Laxova syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014466), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased fetal movementHPOHP:0001558
- 7 of 7 reported patients
- IchthyosisHPOHP:0008064
- 12 of 12 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 12 of 12 reported patients
- MicrocephalyHPOHP:0000252
- 12 of 12 reported patients
- MicrognathiaHPOHP:0000347
- 12 of 12 reported patients
- Rocker bottom footHPOHP:0001838
- 12 of 12 reported patients
- Sloping foreheadHPOHP:0000340
Show the remaining 15
- EdemaHPOHP:0000969
- 8 of 11 reported patients
- Toe syndactylyHPOHP:0001770
- 7 of 12 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 3 of 6 reported patients
- LissencephalyHPOHP:0001339
- 3 of 7 reported patients
- Wide intermamillary distanceHPOHP:0006610
- 3 of 7 reported patients
- VentriculomegalyHPOHP:0002119
- 2 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PSAT1HGNC:19129
- Strong · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: Neu-Laxova syndrome 2
- Also called
- Neu-Laxova syndrome caused by mutation in PSAT1Neu-Laxova syndrome due to phosphoserine aminotransferase deficiencyNeu-Laxova syndrome type 2phosphoserine aminotransferase deficiency, prenatal formPSAT1 Neu-Laxova syndrome