Ververi-Brady syndrome 1
MONDO:0060707Mondo
Findings
No curated finding names Ververi-Brady syndrome 1 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
- Congenital onset
HPO, annotations 2026-09-02
Features
34 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.
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- MacrotiaHPOHP:0000400
- 2 of 2 reported patients
- Metaphyseal irregularityHPOHP:0003025
- 2 of 2 reported patients
- Prominent noseHPOHP:0000448
- 3 of 3 reported patients
- ScoliosisHPOHP:0002650
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 4 of 5 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 4 of 5 reported patients
- Wide mouthHPOHP:0000154
- 4 of 5 reported patients
- Mildly elevated creatine kinaseHPOHP:0008180
- 2 of 3 reported patients · Childhood onset
- Bulbous noseHPOHP:0000414
- 1 of 2 reported patients
Show the remaining 22
- Delayed skeletal maturationHPOHP:0002750
- 1 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
- High palateHPOHP:0000218
- 1 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 2 reported patients
- Single umbilical arteryHPOHP:0001195
- 1 of 2 reported patients
- Transposition of the great arteriesHPOHP:0001669
- 1 of 2 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.
- QRICH1HGNC:24713
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Illumina · Autosomal dominant · 2020
Where it sits
Other names
1 name
Resolves to: Ververi-Brady syndrome 1
- Also called
- VERBRAS1