albinism-hearing loss syndrome
Findings
No curated finding names albinism-hearing loss syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.
Definition from the Mondo Disease Ontology (MONDO:0010403), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Very frequent (80% to 99% of cases)
- Irregular hyperpigmentationHPOHP:0007400
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Partial albinismHPOHP:0007443
- Frequent (30% to 79% of cases)
- Piebald skin depigmentationHPOHP:0007544
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: albinism-hearing loss syndrome
- Also called
- Woolf's syndromeZiprkowski–Margolis syndrome