nanophthalmos 2
MONDO:0012299Mondo
Findings
No curated finding names nanophthalmos 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.
Definition from the Mondo Disease Ontology (MONDO:0012299), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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.
- High hypermetropiaHPOHP:0008499
- 5 of 5 reported patients
- MicrophthalmiaHPOHP:0000568
- 5 of 5 reported patients
- Reduced visual acuityHPOHP:0007663
- 5 of 5 reported patients
- Angle closure glaucomaHPOHP:0012109
- 1 of 5 reported patients
- Retinal detachmentHPOHP:0000541
- 1 of 5 reported patients
- Abnormality of corneal sizeHPOHP:0001120
- 0 of 5 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.
- MFRPHGNC:18121
- Definitive · G2P · Autosomal recessive · 2017
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: nanophthalmos 2
- Also called
- MFRP nanophthalmiananophthalmia caused by mutation in MFRPnanophthalmos type 2