symptomatic form of Coffin-Lowry syndrome in female carriers
MONDO:0017193Mondo
Findings
No curated finding names symptomatic form of Coffin-Lowry syndrome in female carriers yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
21 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.
- Large handsHPOHP:0001176
- Very frequent (80% to 99% of cases)
- Tapered fingerHPOHP:0001182
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- AnodontiaHPOHP:0000674
- Occasional (5% to 29% of cases)
- Bipolar affective disorderHPOHP:0007302
- Occasional (5% to 29% of cases)
- DepressionHPOHP:0000716
- Occasional (5% to 29% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Occasional (5% to 29% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Occasional (5% to 29% of cases)
- Frontal bossingHPOHP:0002007
- Occasional (5% to 29% of cases)
- HypertelorismHPOHP:0000316
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
- KyphosisHPOHP:0002808
- Occasional (5% to 29% of cases)
Show the remaining 9
- ObesityHPOHP:0001513
- Occasional (5% to 29% of cases)
- OligodontiaHPOHP:0000677
- Occasional (5% to 29% of cases)
- Pectus carinatumHPOHP:0000768
- Occasional (5% to 29% of cases)
- Pectus excavatumHPOHP:0000767
- Occasional (5% to 29% of cases)
- PsychosisHPOHP:0000709
- Occasional (5% to 29% of cases)
- ScoliosisHPOHP:0002650
- 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.
- RPS6KA3HGNC:10432
- Supportive · Orphanet · Autosomal dominant · 2021