Ermine phenotype
MeSH: C535508ORPHA: 999
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 Ermine phenotype, sourced from HPO and Orphanet clinical annotations.
MicrocephalyAbnormality of the noseSensorineural hearing impairmentAstigmatismPhotophobiaNystagmusHypopigmented skin patchesOcular albinismHypotoniaMild intellectual disabilityToe syndactylyClinodactyly of the 5th fingerShort statureHypopigmentation of hairIrregular hyperpigmentationIris hypopigmentation
Classification & Codes
MeSH Code
C535508Orphanet Code
ORPHA:999Ermine phenotype
| MeSH | C535508 |
| Orphanet | ORPHA:999 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO