ermine phenotype
Findings
No curated finding names ermine phenotype yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.
Definition from the Mondo Disease Ontology (MONDO:0009196), read 2026-09-29. CC BY 4.0.
Features
22 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.
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Spotty hyperpigmentationHPOHP:0005585
- 1 of 1 reported patient
- VitiligoHPOHP:0001045
- 1 of 1 reported patient
- White eyebrowHPOHP:0002226
- 1 of 1 reported patient
- White eyelashesHPOHP:0002227
- 1 of 1 reported patient
Show the remaining 10
- AstigmatismHPOHP:0000483
- Occasional (5% to 29% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
- Iris hypopigmentationHPOHP:0007730
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: ermine phenotype
- Also called
- O'Doherty syndromepigmentary disorder with hearing loss