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Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.
Features include always present findings: Type II lissencephaly, Cerebellar dysplasia, and Retinal dysplasia; and common findings: Gonadal dysgenesis and Neural tube defect.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Retinal dysplasia |
RXYLT1 function has not been fully characterized.
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 is associated with mutations in the RXYLT1 gene on chromosome 12.
Genetic testing for RXYLT1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 2 common features.
No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10.
2 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Sharaf-Eldin W (2025). [PMID: 39998573](https://pubmed.ncbi.nlm.nih.gov/39998573/). *J Mol Neurosci*. [Review / Meta-Analysis]
Aref F (2024). [PMID: 39253050](https://pubmed.ncbi.nlm.nih.gov/39253050/). *Radiol Case Rep*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 4:54 AM UTC
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