Vissers-Bodmer syndrome
MONDO:0033618Mondo
Findings
No curated finding names Vissers-Bodmer syndrome 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
17 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
- 34 of 37 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 29 of 35 reported patients
- Motor delayHPOHP:0001270
- 29 of 35 reported patients
- Generalized hypotoniaHPOHP:0001290
- 26 of 35 reported patients
- Intellectual disabilityHPOHP:0001249
- 23 of 32 reported patients
- Short statureHPOHP:0004322
- 18 of 33 reported patients
- DysarthriaHPOHP:0001260
- 10 of 29 reported patients
- Sleep disturbanceHPOHP:0002360
- 10 of 31 reported patients
- SeizureHPOHP:0001250
- 9 of 36 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 8 of 35 reported patients
- Decreased head circumferenceHPOHP:0040195
- 7 of 34 reported patients
- Decreased body weightHPOHP:0004325
- 6 of 31 reported patients
Show the remaining 5
- Premature birthHPOHP:0001622
- 6 of 38 reported patients
- HoloprosencephalyHPOHP:0001360
- 4 of 31 reported patients
- Tapered fingerHPOHP:0001182
- 3 of 35 reported patients
- Tall statureHPOHP:0000098
- 2 of 33 reported patients
- Abnormal facial shapeHPOHP:0001999
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.
- CNOT1HGNC:7877
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: Vissers-Bodmer syndrome
- Also called
- VIBOS