symptomatic form of Coffin-Lowry syndrome in female carriers
ORPHA: 276630
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with symptomatic form of Coffin-Lowry syndrome in female carriers, sourced from HPO and Orphanet clinical annotations.
Large handsTapered fingerEverted lower lip vermilionHypertelorismWide noseDownslanted palpebral fissuresAnodontiaOligodontiaPsychosisDepressionPectus excavatumPectus carinatumSeizureHypotoniaObesityFrontal bossingScoliosisKyphosisShort statureBipolar affective disorderAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:276630symptomatic form of Coffin-Lowry syndrome in female carriers
| Orphanet | ORPHA:276630 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO