microcornea-myopic chorioretinal atrophy
MONDO:0014195Mondo
Findings
No curated finding names microcornea-myopic chorioretinal atrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Chorioretinal atrophyHPOHP:0000533
- 8 of 8 reported patients
- MicrocorneaHPOHP:0000482
- 8 of 8 reported patients
- MyopiaHPOHP:0000545
- 8 of 8 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 8 of 8 reported patients
- TelecanthusHPOHP:0000506
- 8 of 8 reported patients
- Broad nasal tipHPOHP:0000455
- 3 of 8 reported patients
- Wide noseHPOHP:0000445
- 2 of 8 reported patients
- Posterior subcapsular cataractHPOHP:0007787
- 1 of 8 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.
- ADAMTS18HGNC:17110
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: microcornea-myopic chorioretinal atrophy
- Also called
- microcornea-myopic chorioretinal atrophy-telecanthus syndromeMMCAT syndrome