odontochondrodysplasia 2 with hearing loss and diabetes
MONDO:0031010Mondo
Findings
No curated finding names odontochondrodysplasia 2 with hearing loss and diabetes 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
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.
- AsthmaHPOHP:0002099
- 4 of 4 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 4 of 4 reported patients
- Delayed eruption of permanent teethHPOHP:0000696
- 4 of 4 reported patients
- Dentinogenesis imperfectaHPOHP:0000703
- 4 of 4 reported patients
- Growth delayHPOHP:0001510
- 4 of 4 reported patients
- Large kneeHPOHP:0030866
- 4 of 4 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 4 reported patients
- ObesityHPOHP:0001513
- 4 of 4 reported patients
- PlatyspondylyHPOHP:0000926
- 4 of 4 reported patients
- Prominent nasal bridgeHPOHP:0000426
- 4 of 4 reported patients
- Proportionate short statureHPOHP:0003508
- 4 of 4 reported patients
- PruritusHPOHP:0000989
- 4 of 4 reported patients
Show the remaining 14
- Sensorineural hearing impairmentHPOHP:0000407
- 4 of 4 reported patients
- Short phalanx of fingerHPOHP:0009803
- 4 of 4 reported patients
- Type I diabetes mellitusHPOHP:0100651
- 4 of 4 reported patients
- Cone-shaped epiphyses of the phalanges of the handHPOHP:0010230
- 3 of 4 reported patients
- OsteopeniaHPOHP:0000938
- 2 of 4 reported patients
- PeriodontitisHPOHP:0000704
- 2 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.
- MIA3HGNC:24008
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: odontochondrodysplasia 2 with hearing loss and diabetes
- Also called
- ODCD2ondontochondrodysplasia 2 with hearing loss and diabetes