X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
MONDO:0044702Mondo
Findings
No curated finding names X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- Atresia of the external auditory canalHPOHP:0000413
- 4 of 4 reported patients
- Hearing impairmentHPOHP:0000365
- 6 of 6 reported patients
- TelecanthusHPOHP:0000506
- 4 of 4 reported patients
- PtosisHPOHP:0000508
- 3 of 4 reported patients
- Thick eyebrowHPOHP:0000574
- 3 of 4 reported patients
- Wide nasal bridgeHPOHP:0000431
- 3 of 4 reported patients
- Stenosis of the external auditory canalHPOHP:0000402
- 2 of 4 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 1 of 4 reported patients
- Unilateral microphthalmosHPOHP:0011480
- 1 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 0 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 4 reported patients
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.
- GPRASP2HGNC:25169
- Supportive · Orphanet · X-linked · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
2 names
Resolves to: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
- Also called
- deafness, X-linked 7DFNX7