microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
MONDO:0009633Mondo
Findings
No curated finding names microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
7 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.
- MicrospherophakiaHPOHP:0030961
- 5 of 5 reported patients
- Ectopia lentisHPOHP:0001083
- 3 of 5 reported patients
- GlaucomaHPOHP:0000501
- 2 of 5 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 0 of 5 reported patients
- Abnormality of the skinHPOHP:0000951
- 0 of 5 reported patients
- BuphthalmosHPOHP:0000557
- 0 of 5 reported patients
- MegalocorneaHPOHP:0000485
- 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.
- LTBP2HGNC:6715
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
- Narrower terms (1)