pseudo-TORCH syndrome 1
MONDO:0020789Mondo
Findings
No curated finding names pseudo-TORCH syndrome 1 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
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
11 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.
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- SeizureHPOHP:0001250
- 5 of 5 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 5 reported patients
- Increased CSF protein concentrationHPOHP:0002922
- 4 of 5 reported patients
- HypotoniaHPOHP:0001252
- 3 of 5 reported patients
- DystoniaHPOHP:0001332
- 2 of 5 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 2 of 5 reported patients
- Cleft lipHPOHP:0410030
- 1 of 5 reported patients
- Patent foramen ovaleHPOHP:0001655
- 1 of 5 reported patients
- Umbilical herniaHPOHP:0001537
- 1 of 5 reported patients
- Cerebral calcificationHPOHP:0002514
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.
- OCLNHGNC:8104
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: pseudo-TORCH syndrome 1
- Also called
- pseudo-TORCH syndrome type 1PTORCH1