Houge-Janssens syndrome 3
MONDO:0032697Mondo
Findings
No curated finding names Houge-Janssens syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
37 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
- 16 of 16 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 10 of 14 reported patients
- HypotoniaHPOHP:0001252
- 11 of 16 reported patients
- Feeding difficultiesHPOHP:0011968
- 9 of 15 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 6 of 16 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 16 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 5 of 16 reported patients
- VentriculomegalyHPOHP:0002119
- 4 of 16 reported patients
- Broad nasal tipHPOHP:0000455
- 3 of 16 reported patients
- PlagiocephalyHPOHP:0001357
- 3 of 16 reported patients
- Short philtrumHPOHP:0000322
- 3 of 16 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 16 reported patients
Show the remaining 25
- Broad foreheadHPOHP:0000337
- 2 of 16 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 16 reported patients
- Developmental regressionHPOHP:0002376
- 2 of 16 reported patients
- Frontal bossingHPOHP:0002007
- 2 of 16 reported patients
- High palateHPOHP:0000218
- 2 of 16 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 16 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.
- PPP2CAHGNC:9299
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
Where it sits
Other names
2 names
Resolves to: Houge-Janssens syndrome 3
- Also called
- NEDLBAneurodevelopmental disorder and language delay with or without structural brain abnormalities