AICA-ribosiduria
MeSH: C563876ORPHA: 250977
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 AICA-ribosiduria, sourced from HPO and Orphanet clinical annotations.
Fused labia minoraWide mouthThin upper lip vermilionBrachycephalyLow-set earsSeizureCongenital blindnessClitoral hypertrophySevere intellectual disabilityProminent forehead
Classification & Codes
MeSH Code
C563876Orphanet Code
ORPHA:250977AICA-ribosiduria
| MeSH | C563876 |
| Orphanet | ORPHA:250977 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO