CHD7-related CHARGE syndrome
MONDO:1010178Mondo
Findings
No curated finding names CHD7-related CHARGE syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A CHARGE syndrome in which the cause of the disease is a variation in the CHD7 gene.
Definition from the Mondo Disease Ontology (MONDO:1010178), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
39 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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 47 of 47 reported patients
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Postnatal growth retardationHPOHP:0008897
- 19 of 19 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Ventricular septal defectHPOHP:0001629
- 3 of 3 reported patients
- Iris colobomaHPO
Show the remaining 27
- Unilateral microphthalmosHPOHP:0011480
- 2 of 3 reported patients
- Facial asymmetryHPOHP:0000324
- 36 of 56 reported patients
- Aplasia of the semicircular canalHPOHP:0011381
- 1 of 2 reported patients
- External genital hypoplasiaHPOHP:0003241
- 11 of 22 reported patients
- Choanal atresiaHPOHP:0000453
- 34 of 69 reported patients
- Bifid femurHPOHP:0010443
- 1 of 3 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.
- SEMA3EHGNC:10727
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: CHD7-related CHARGE syndrome
- Also called
- CHARGE syndrome due to CHD7 deficiency