Cohen-Gibson syndrome
MONDO:0060510Mondo
Findings
No curated finding names Cohen-Gibson 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
22 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.
- Accelerated skeletal maturationHPOHP:0005616
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Chin with horizontal creaseHPOHP:0011823
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Flared metaphysisHPOHP:0003015
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Large handsHPOHP:0001176
- 1 of 1 reported patient
Show the remaining 10
- MacrocephalyHPOHP:0000256
- 1 of 1 reported patient
- MacrotiaHPOHP:0000400
- 1 of 1 reported patient
- Melanocytic nevusHPOHP:0000995
- 1 of 1 reported patient
- MyopiaHPOHP:0000545
- 1 of 1 reported patient
- OvergrowthHPOHP:0001548
- 1 of 1 reported patient
- RetrognathiaHPOHP:0000278
- 1 of 1 reported patient
- Scoliosis
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.
- EEDHGNC:3188
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · ClinGen · Autosomal dominant · 2022
Where it sits
- A kind of