muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
Definition from the Mondo Disease Ontology (MONDO:0013158), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
20 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.
- Aplasia of the inferior half of the cerebellar vermisHPOHP:0007063
- 2 of 2 reported patients
- AreflexiaHPOHP:0001284
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Cerebellar hypoplasiaHPO
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.
- LARGE1HGNC:6511
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
- Also called
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6