Chopra-Amiel-Gordon syndrome
MONDO:0859186Mondo
Findings
No curated finding names Chopra-Amiel-Gordon 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
34 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
- 31 of 34 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 29 of 32 reported patients
- Motor delayHPOHP:0001270
- 20 of 29 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 12 of 24 reported patients
- EEG abnormalityHPOHP:0002353
- 10 of 23 reported patients
- Triangular faceHPOHP:0000325
- 10 of 24 reported patients
- Feeding difficultiesHPOHP:0011968
- 11 of 27 reported patients
- Short statureHPOHP:0004322
- 12 of 31 reported patients
- Flared nostrilsHPOHP:0000454
- 9 of 24 reported patients
- Thick nasal alaeHPOHP:0009928
- 9 of 24 reported patients
- Almond-shaped palpebral fissureHPOHP:0007874
- 8 of 24 reported patients
- Recurrent infectionsHPOHP:0002719
- 11 of 33 reported patients
Show the remaining 22
- Joint hypermobilityHPOHP:0001382
- 9 of 29 reported patients
- Postnatal growth retardationHPOHP:0008897
- 9 of 30 reported patients
- SeizureHPOHP:0001250
- 9 of 33 reported patients
- StrabismusHPOHP:0000486
- 6 of 23 reported patients
- Periorbital fullnessHPOHP:0000629
- 6 of 24 reported patients
- Autistic behaviorHPOHP:0000729
- 8 of 34 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.
- ANKRD17HGNC:23575
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of