otofacial neurodevelopmental syndrome
MONDO:0975705Mondo
Findings
No curated finding names otofacial neurodevelopmental syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
30 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 semicircular canal morphologyHPOHP:0011380
- 2 of 2 reported patients
- Abnormality of superior crus of antihelixHPOHP:0011245
- 4 of 4 reported patients
- Angulated antihelixHPOHP:0011236
- 2 of 2 reported patients
- Low-set earsHPOHP:0000369
- 4 of 4 reported patients
- MicrotiaHPOHP:0008551
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 7 of 7 reported patients
- Overfolded helixHPOHP:0000396
- 3 of 3 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 4 of 4 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Small earlobeHPOHP:0000385
- 1 of 1 reported patient
- Underdeveloped superior crus of antihelixHPOHP:0011246
- 1 of 1 reported patient
- Unilateral deafnessHPOHP:0009900
- 1 of 1 reported patient
Show the remaining 18
- Hearing impairmentHPOHP:0000365
- 2 of 3 reported patients
- MicropenisHPOHP:0000054
- 2 of 3 reported patients
- Visual impairmentHPOHP:0000505
- 3 of 5 reported patients
- Facial asymmetryHPOHP:0000324
- 4 of 7 reported patients
- Cleft palateHPOHP:0000175
- 1 of 2 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 2 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.
- ZSCAN10HGNC:12997
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024