Ayme-Gripp syndrome
MONDO:0010992Mondo
Findings
No curated finding names Ayme-Gripp 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
18 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.
- Hearing impairmentHPOHP:0000365
- 15 of 15 reported patients
- Intellectual disabilityHPOHP:0001249
- 15 of 15 reported patients
- Midface retrusionHPOHP:0011800
- 15 of 15 reported patients
- Developmental cataractHPOHP:0000519
- 14 of 15 reported patients
- Short noseHPOHP:0003196
- 13 of 15 reported patients
- BrachydactylyHPOHP:0001156
- 12 of 15 reported patients
- SeizureHPOHP:0001250
- 8 of 10 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 11 of 15 reported patients
- High foreheadHPOHP:0000348
- 11 of 15 reported patients
- Long philtrumHPOHP:0000343
- 11 of 15 reported patients
- Narrow mouthHPOHP:0000160
- 10 of 15 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 10 of 15 reported patients
Show the remaining 6
- HypertelorismHPOHP:0000316
- 9 of 15 reported patients
- Broad eyebrowHPOHP:0011229
- 8 of 15 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 6 of 15 reported patients
- PericarditisHPOHP:0001701
- 6 of 15 reported patients
- CamptodactylyHPOHP:0012385
- Occasional (5% to 29% of cases)
- Pectus excavatumHPOHP:0000767
- 3 of 15 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.
- MAFHGNC:6776
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025