Neu-Laxova syndrome 1
MONDO:0009736Mondo
Findings
No curated finding names Neu-Laxova syndrome 1 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 PHGDH gene.
Definition from the Mondo Disease Ontology (MONDO:0009736), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
21 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.
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Primary microcephalyHPOHP:0011451
- 3 of 3 reported patients
- Short neckHPOHP:0000470
- 3 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
- Generalized edemaHPOHP:0007430
- 2 of 3 reported patients
- IchthyosisHPOHP:0008064
- 2 of 3 reported patients
- AblepharonHPOHP:0011224
Show the remaining 9
- Long fingersHPOHP:0100807
- 1 of 3 reported patients
- Low-set earsHPOHP:0000369
- 1 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 3 reported patients
- PolyhydramniosHPOHP:0001561
- 1 of 3 reported patients
- ProptosisHPOHP:0000520
- 1 of 3 reported patients
- Rocker bottom footHPOHP:0001838
- 1 of 3 reported patients
Genes
2 genes
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.
Where it sits
- A kind of
Other names
6 names
Resolves to: Neu-Laxova syndrome 1
- Also called
- 3-Phosphoglycerate dehydrogenase deficiency, neonatal form3-phosphoglycerate dehydrogenase deficiency, prenatal formNeu-Laxova syndrome caused by mutation in PHGDHNeu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiencyNeu-Laxova syndrome type 1PHGDH Neu-Laxova syndrome