autosomal dominant deafness - onychodystrophy syndrome
Findings
No curated finding names autosomal dominant deafness - onychodystrophy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.
Definition from the Mondo Disease Ontology (MONDO:0007420), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
26 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.
- Absent fifth fingernailHPOHP:0200104
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Absent middle phalanx of 5th fingerHPOHP:0009162
- 3 of 3 reported patients
- Absent thumbnailHPOHP:0012554
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Absent toenailHPOHP:0001802
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 1 of 1 reported patient
- Bilateral triphalangeal thumbsHPOHP:0005707
- 1 of 1 reported patient
Show the remaining 14
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the nailsHPOHP:0008386
- Frequent (30% to 79% of cases)
- OligodontiaHPOHP:0000677
- Frequent (30% to 79% of cases)
- Triphalangeal thumbHPOHP:0001199
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Occasional (5% to 29% of cases)
- Aplasia cutis congenitaHPOHP:0001057
- 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.
- ATP6V1B2HGNC:854
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: autosomal dominant deafness - onychodystrophy syndrome
- Also called
- autosomal dominant deafness-onychodystrophy syndromeDDOD syndromedeafness-onychodystrophy syndrome, autosomal dominant