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

C535508

Orphanet Code

ORPHA:999
Ermine phenotype
MeSHC535508
OrphanetORPHA:999
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO