CODAS syndrome
Findings
No curated finding names CODAS syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.
Definition from the Mondo Disease Ontology (MONDO:0010879), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
66 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
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Caudate atrophyHPOHP:0002340
- 1 of 1 reported patient
- Cerebellar cortical atrophyHPOHP:0008278
- 1 of 1 reported patient
- ChoreoathetosisHPOHP:0001266
- 1 of 1 reported patient
- Delayed epiphyseal ossificationHPOHP:0002663
- 7 of 7 reported patients
Show the remaining 54
- Pes valgusHPOHP:0008081
- 2 of 2 reported patients
- PtosisHPOHP:0000508
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- 10 of 11 reported patients
- Genu valgumHPOHP:0002857
- 9 of 10 reported patients
- Abnormal dental enamel morphologyHPOHP:0000682
- Very frequent (80% to 99% of cases)
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.
- LONP1HGNC:9479
- Strong · Ambry Genetics · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: CODAS syndrome
- Also called
- cerebrooculodentoauriculoskeletal syndrome