nanophthalmos 4
MONDO:0014426Mondo
Findings
No curated finding names nanophthalmos 4 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 TMEM98 gene.
Definition from the Mondo Disease Ontology (MONDO:0014426), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 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.
- HypermetropiaHPOHP:0000540
- 9 of 9 reported patients
- MicrophthalmiaHPOHP:0000568
- 9 of 9 reported patients · Congenital onset
- Reduced visual acuityHPOHP:0007663
- 9 of 9 reported patients
- Angle closure glaucomaHPOHP:0012109
- 3 of 9 reported patients · Middle age onset
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.
- TMEM98HGNC:24529
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2017
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: nanophthalmos 4
- Also called
- nanophthalmia caused by mutation in TMEM98nanophthalmos type 4TMEM98 nanophthalmia