PSPH deficiency
Findings
No curated finding names PSPH deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.
Definition from the Mondo Disease Ontology (MONDO:0013531), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
22 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.
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- HyposerinemiaHPOHP:0012279
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Postnatal growth retardationHPOHP:0008897
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Show the remaining 10
- EsophagitisHPOHP:0100633
- Occasional (5% to 29% of cases)
- Full cheeksHPOHP:0000293
- Occasional (5% to 29% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Occasional (5% to 29% of cases)
- HypertoniaHPOHP:0001276
- Occasional (5% to 29% of cases)
- HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- 1 of 7 reported patients
- Occasional (5% to 29% of cases)
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.
- PSPHHGNC:9577
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: PSPH deficiency
- Also called
- phosphoserine phosphatase deficiencyPSPHD