muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014022), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- Cerebellar dysplasiaHPOHP:0007033
- 9 of 9 reported patients
- Retinal dysplasiaHPOHP:0007973
- 6 of 6 reported patients
- Type II lissencephalyHPOHP:0007260
- 9 of 9 reported patients
- Gonadal dysgenesisHPOHP:0000133
- 5 of 8 reported patients
- Neural tube defectHPOHP:0045005
- 5 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.
- RXYLT1HGNC:13530
- Definitive · G2P · Autosomal recessive · 2010
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
- Also called
- muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1RXYLT1 muscular dystrophy-dystroglycanopathy, type A