autosomal dominant Robinow syndrome 3
Findings
No curated finding names autosomal dominant Robinow syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014819), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
52 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.
- Anteverted naresHPOHP:0000463
- 4 of 4 reported patients
- Bifid tongueHPOHP:0010297
- 3 of 3 reported patients
- BrachydactylyHPOHP:0001156
- 4 of 4 reported patients
- ClinodactylyHPOHP:0030084
- 4 of 4 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Gingival overgrowthHPOHP:0000212
- 3 of 3 reported patients
- MesomeliaHPOHP:0003027
Show the remaining 40
- Cleft palateHPOHP:0000175
- 3 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 3 of 4 reported patients
- Long philtrumHPOHP:0000343
- 3 of 4 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 4 reported patients
- ProptosisHPOHP:0000520
- 3 of 4 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 3 of 4 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.
- DVL3HGNC:3087
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: autosomal dominant Robinow syndrome 3
- Also called
- autosomal dominant Robinow syndrome type 3DRS3DVL3 Robinow syndromeRobinow syndrome caused by mutation in DVL3Robinow syndrome, autosomal dominant 3Robinow syndrome, autosomal dominant type 3