Houge-Janssens syndrome 2
MONDO:0014605Mondo
Findings
No curated finding names Houge-Janssens syndrome 2 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
47 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.
- Gait ataxiaHPOHP:0002066
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- 5 of 5 reported patients
- Absent speechHPOHP:0001344
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 6 of 8 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 6 of 8 reported patients
- Frequent (30% to 79% of cases)
- PlagiocephalyHPOHP:0001357
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- 5 of 8 reported patients
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- 3 of 5 reported patients
- Frequent (30% to 79% of cases)
- Cerebral visual impairmentHPOHP:0100704
- 2 of 5 reported patients
- Frequent (30% to 79% of cases)
- Delayed myelinationHPOHP:0012448
- Frequent (30% to 79% of cases)
Show the remaining 35
- Facial hypotoniaHPOHP:0000297
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Inability to walkHPOHP:0002540
- 3 of 5 reported patients
- Open mouthHPOHP:0000194
- Frequent (30% to 79% of cases)
- Poor speechHPOHP:0002465
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- 2 of 5 reported patients
- Frequent (30% to 79% 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.
- PPP2R1AHGNC:9302
- Definitive · Illumina · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Houge-Janssens syndrome 2
- Also called
- autosomal dominant intellectual disability 36intellectual disability, autosomal dominant type 36mental retardation, autosomal dominant type 36microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeMRD36