otospondylomegaepiphyseal dysplasia, autosomal recessive
MONDO:0044206Mondo
Findings
No curated finding names otospondylomegaepiphyseal dysplasia, autosomal recessive 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
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.
- Anteverted naresHPOHP:0000463
- 3 of 3 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 3 of 3 reported patients
- Lumbar hyperlordosisHPOHP:0002938
- 3 of 3 reported patients
- Midface retrusionHPOHP:0011800
- 3 of 3 reported patients
- Premature osteoarthritisHPOHP:0003088
- 3 of 3 reported patients
- Prominent supraorbital ridgesHPOHP:0000336
- 3 of 3 reported patients
- ProptosisHPOHP:0000520
- 3 of 3 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 3 of 3 reported patients
- Short 5th metacarpalHPOHP:0010047
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Cleft palateHPOHP:0000175
- 0 of 3 reported patients
Genes
2 genes
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.
- COL11A2HGNC:2187
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2015
- COL2A1HGNC:2200
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of