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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13

MONDO:0014120

Also known as:MDDGA13Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13

Overview

GeneticsAutosomal recessive · B4GAT1 (chr 11)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Seizure, Gray matter heterotopia, Enlarged brain ventricles (ventriculomegaly), and Cerebellar hypoplasia; and common findings: Type II lissencephaly, Retinal dysplasia, and Communicating hydrocephalus. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Hypoplasia of the brainstem, Seizure, Hydrocephalus

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

B4GAT1 encodes beta-1,4-glucuronyltransferase 1 (415 aa). Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1). Highest expression in Brain Frontal Cortex BA9 (263.9 TPM) and Brain Cerebellar Hemisphere (223.6 TPM).

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 has been associated with mutations in the B4GAT1 gene on chromosome 11.

The B4GAT1 protein participates in B4GAT1:LARGE mutants pathway.

B4GAT1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for B4GAT1 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 3 common features.

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 2:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615287

GARD

Genetic and Rare Diseases Info Center

GARD:15938

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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