autosomal dominant Robinow syndrome 2
Findings
No curated finding names autosomal dominant Robinow syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014591), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
64 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.
- Calvarial osteosclerosisHPOHP:0005450
- 4 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 9 of 9 reported patients
- Frontal bossingHPOHP:0002007
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Hip dislocationHPOHP:0002827
- 1 of 1 reported patient
- Hypoplasia of the radiusHPOHP:0002984
Show the remaining 52
- Mixed hearing impairmentHPOHP:0000410
- 3 of 3 reported patients
- OligodontiaHPOHP:0000677
- 3 of 3 reported patients
- Short noseHPOHP:0003196
- 15 of 15 reported patients
- Thick upper lip vermilionHPOHP:0000215
- 1 of 1 reported patient
- Thin corpus callosumHPOHP:0033725
- 1 of 1 reported patient
- Triangular mouthHPOHP:0000207
- 10 of 10 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.
- DVL1HGNC:3084
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: autosomal dominant Robinow syndrome 2
- Also called
- autosomal dominant Robinow syndrome caused by mutation in DVL1autosomal dominant Robinow syndrome type 2DRS2DVL1 autosomal dominant Robinow syndromeRobinow syndrome, autosomal dominant type 2