oculodentodigital dysplasia, autosomal recessive
Findings
No curated finding names oculodentodigital dysplasia, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive form of oculodentodigital dysplasia.
Definition from the Mondo Disease Ontology (MONDO:0009768), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
17 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.
- Delayed eruption of teethHPOHP:0000684
- 2 of 2 reported patients
- Fine hairHPOHP:0002213
- 2 of 2 reported patients
- Large fontanellesHPOHP:0000239
- 2 of 2 reported patients
- Microdontia of primary teethHPOHP:0006347
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- Underdeveloped nasal alaeHPOHP:0000430
- 2 of 2 reported patients
- 3-4 finger cutaneous syndactylyHPOHP:0011939
Show the remaining 5
- Global developmental delayHPOHP:0001263
- 1 of 2 reported patients
- MicrophthalmiaHPOHP:0000568
- 1 of 2 reported patients
- Persistent pupillary membraneHPOHP:0009917
- 1 of 2 reported patients
- Sparse hairHPOHP:0008070
- 1 of 2 reported patients
- Wide cranial suturesHPOHP:0010537
- 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.
- GJA1HGNC:4274
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
1 name
Resolves to: oculodentodigital dysplasia, autosomal recessive
- Also called
- autosomal recessive oculodentodigital dysplasia