autosomal dominant Robinow syndrome 1
Findings
No curated finding names autosomal dominant Robinow syndrome 1 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 WNT5A gene.
Definition from the Mondo Disease Ontology (MONDO:0024455), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 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.
- BrachydactylyHPOHP:0001156
- 6 of 6 reported patients
- Short noseHPOHP:0003196
- 6 of 6 reported patients
- Short statureHPOHP:0004322
- 6 of 6 reported patients · Infantile onset
- Short long boneHPOHP:0003026
- 5 of 6 reported patients
- Anteverted naresHPOHP:0000463
- 3 of 6 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 3 of 6 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
Show the remaining 12
- Posteriorly rotated earsHPOHP:0000358
- 3 of 6 reported patients
- ProptosisHPOHP:0000520
- 3 of 6 reported patients
- Sacral dimpleHPOHP:0000960
- 3 of 6 reported patients
- Short lingual frenulumHPOHP:0000200
- 3 of 6 reported patients
- Wide anterior fontanelHPOHP:0000260
- 3 of 6 reported patients
- Dislocated radial headHPOHP:0003083
- 2 of 6 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.
- WNT5AHGNC:12784
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Illumina · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
5 names
Resolves to: autosomal dominant Robinow syndrome 1
- Also called
- autosomal dominant Robinow syndrome caused by mutation in WNT5ADRS1dysostosis acral with facial and genital abnormalitiesRobinow syndrome, autosomal dominant 1WNT5A autosomal dominant Robinow syndrome