retinal dystrophy and microvillus inclusion disease
MONDO:0859170Mondo
Findings
No curated finding names retinal dystrophy and microvillus inclusion disease 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
- Death in infancy · Neonatal onset
HPO, annotations 2026-09-02
Features
9 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.
- Chronic diarrheaHPOHP:0002028
- 10 of 10 reported patients · Neonatal onset
- Severely reduced visual acuityHPOHP:0001141
- 8 of 10 reported patients · Juvenile onset
- NystagmusHPOHP:0000639
- 5 of 10 reported patients
- Optic disc pallorHPOHP:0000543
- 5 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 10 reported patients
- BronchiectasisHPOHP:0002110
- 1 of 10 reported patients
- OsteopeniaHPOHP:0000938
- 1 of 10 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 10 reported patients
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 1 of 10 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.
- STX3HGNC:11438
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of