Cornelia de Lange syndrome 6
MONDO:0957921Mondo
Findings
No curated finding names Cornelia de Lange syndrome 6 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 · Infantile onset · Third trimester onset · Second trimester onset
HPO, annotations 2026-09-02
Features
40 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.
- ArachnodactylyHPOHP:0001166
- 1 of 1 reported patient
- Atrioventricular canal defectHPOHP:0006695
- 1 of 1 reported patient
- Cleft lipHPOHP:0410030
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 2 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Down-sloping shoulderHPOHP:0200021
- 1 of 1 reported patient
- Frontal upsweep of hairHPOHP:0002236
- 4 of 4 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 15 of 15 reported patients
- Hair-pullingHPOHP:0012167
- 1 of 1 reported patient
- Hip dysplasiaHPOHP:0001385
- 2 of 2 reported patients
Show the remaining 28
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- Macrodontia of permanent maxillary central incisorHPOHP:0000675
- 4 of 4 reported patients
- Pectus carinatumHPOHP:0000768
- 1 of 1 reported patient
- Posterior rib fusionHPOHP:0000913
- 1 of 1 reported patient
- Posteriorly rotated earsHPOHP:0000358
- 1 of 1 reported patient
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.
- BRD4HGNC:13575
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of