Ramon syndrome
MONDO:0009954Mondo
Findings
No curated finding names Ramon syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
17 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.
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
- Gingival fibromatosisHPOHP:0000169
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Narrow palateHPOHP:0000189
- Very frequent (80% to 99% of cases)
- OsteolysisHPOHP:0002797
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Frequent (30% to 79% of cases)
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
- Generalized hirsutismHPOHP:0002230
- Frequent (30% to 79% of cases)
- Abnormal anterior chamber morphologyHPOHP:0000593
- Occasional (5% to 29% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Occasional (5% to 29% of cases)
Show the remaining 5
- Conductive hearing impairmentHPOHP:0000405
- Occasional (5% to 29% of cases)
- Diabetes mellitusHPOHP:0000819
- Occasional (5% to 29% of cases)
- HyperkeratosisHPOHP:0000962
- Occasional (5% to 29% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Occasional (5% to 29% of cases)
- Telangiectasia of the skinHPOHP:0100585
- Occasional (5% to 29% of cases)
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.
- ELMO2HGNC:17233
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Ramon syndrome
- Also called
- cherubism-gingival fibromatosis-intellectual disability syndrome