deaf blind hypopigmentation syndrome, Yemenite type
Findings
No curated finding names deaf blind hypopigmentation syndrome, Yemenite type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.
Definition from the Mondo Disease Ontology (MONDO:0011133), 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.
- Delayed eruption of teethHPOHP:0000684
- Very frequent (80% to 99% of cases)
- FrecklingHPOHP:0001480
- Very frequent (80% to 99% of cases)
- Hyperpigmentation of the skinHPOHP:0000953
- Very frequent (80% to 99% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Very frequent (80% to 99% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Very frequent (80% to 99% of cases)
- MacrodontiaHPOHP:0001572
- Very frequent (80% to 99% of cases)
- Multiple cafe-au-lait spotsHPOHP:0007565
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
- Anterior synechiae of the anterior chamberHPOHP:0011483
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
Show the remaining 10
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
- Iris colobomaHPOHP:0000612
- Frequent (30% to 79% of cases)
- Iris hypopigmentationHPOHP:0007730
- Frequent (30% to 79% of cases)
- MicrocorneaHPOHP:0000482
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Abnormal size of the palpebral fissuresHPOHP:0200007
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SOX10HGNC:11190
- Definitive · G2P · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: deaf blind hypopigmentation syndrome, Yemenite type
- Also called
- Warburg-Thomsen syndromeYemenite deaf-blind hypopigmentation syndrome