auroneurodental syndrome
MONDO:0970998Mondo
Findings
No curated finding names auroneurodental 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
- Infantile onset
HPO, annotations 2026-09-02
Features
27 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.
- Axial muscle weaknessHPOHP:0003327
- 2 of 2 reported patients
- Chronic constipationHPOHP:0012450
- 2 of 2 reported patients
- EpicanthusHPOHP:0000286
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Highly arched eyebrowHPOHP:0002553
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
- Loud snoringHPOHP:0025372
- 2 of 2 reported patients
- Low posterior hairlineHPOHP:0002162
- 2 of 2 reported patients
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients
- Narrow mouthHPOHP:0000160
- 2 of 2 reported patients
Show the remaining 15
- Peg-shaped maxillary lateral incisorsHPOHP:0006342
- 2 of 2 reported patients
- Protruding earHPOHP:0000411
- 2 of 2 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 2 of 2 reported patients
- PtosisHPOHP:0000508
- 2 of 2 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 2 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.
- NAA80HGNC:30252
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of