Houge-Janssens syndrome 4
MONDO:0978293Mondo
Findings
No curated finding names Houge-Janssens syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
115 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.
- Cavum septum pellucidumHPOHP:0002389
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 3 of 3 reported patients
- ClumsinessHPOHP:0002312
- 1 of 1 reported patient
- Decreased patellar reflexHPOHP:0011808
- 2 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 2 reported patients
- DiarrheaHPOHP:0002014
- 2 of 2 reported patients
- Easy fatigabilityHPOHP:0003388
- 1 of 1 reported patient
- Enlarged cisterna magnaHPOHP:0002280
- 1 of 1 reported patient
- Gait imbalanceHPOHP:0002141
- 2 of 2 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- HemangiomaHPOHP:0001028
- 1 of 1 reported patient
- Hippocampal sclerosisHPOHP:0033715
- 2 of 2 reported patients
Show the remaining 103
- HyperactivityHPOHP:0000752
- 2 of 2 reported patients
- HypercalcemiaHPOHP:0003072
- 1 of 1 reported patient
- HypercalciuriaHPOHP:0002150
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Impaired tandem gaitHPOHP:0031629
- 1 of 1 reported patient
- Inability to walkHPOHP:0002540
- 1 of 1 reported patient
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.
- PPP2R5CHGNC:9311
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of