pseudo-TORCH syndrome 3
MONDO:0030044Mondo
Findings
No curated finding names pseudo-TORCH syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
20 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.
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 2 of 2 reported patients
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- ApneaHPOHP:0002104
- 2 of 2 reported patients
- CardiomegalyHPOHP:0001640
- 1 of 1 reported patient
- Cerebral calcificationHPOHP:0002514
- 3 of 3 reported patients
- Cerebral hemorrhageHPOHP:0001342
- 2 of 2 reported patients
- Elevated circulating D-dimer concentrationHPOHP:0033106
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Increased total leukocyte countHPOHP:0001974
- 1 of 1 reported patient
- LymphadenitisHPOHP:0002840
- 1 of 1 reported patient
- Premature birthHPOHP:0001622
- 2 of 2 reported patients · Congenital onset
- ProteinuriaHPOHP:0000093
- 2 of 2 reported patients
Show the remaining 8
- Respiratory insufficiencyHPOHP:0002093
- 1 of 1 reported patient
- Acute kidney injuryHPOHP:0001919
- 1 of 2 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 2 reported patients
- Congenital thrombocytopeniaHPOHP:0001905
- 1 of 2 reported patients · Congenital onset
- Recurrent feverHPOHP:0001954
- 1 of 2 reported patients
- SeizureHPOHP:0001250
- 1 of 2 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.
- STAT2HGNC:11363
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Limited · G2P · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: pseudo-TORCH syndrome 3
- Also called
- PTORCH3