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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

MONDO:0009364

Also known as:muscle-eye-brain-POMT1 relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1MDDGA1

Overview

An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.

GeneticsAutosomal recessive · POMT1 (chr 9)

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: Cloudy or opaque cornea (corneal opacity), Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Seizure, and Absent speech and others; and common findings: Kinked brainstem, Hydrocephalus, Microcephaly, and Damage to the optic nerve (optic atrophy) and others. 57 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10

Genetic Landscape

POMT1 function has not been fully characterized.

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 is associated with mutations in the POMT1 gene on chromosome 9.

Diagnosis

Genetic testing for POMT1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 17 always present features, 7 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:236670

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Muscular Dystrophy Association Marks Rare Disease Day by Spotlighting Community Stories Driving Progress in Research, Care, and Advocacy | Muscular Dystrophy Association

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Muscular Dystrophy Association Marks Rare Disease Day by Spotlighting Community Stories Driving Progress in Research, Care, and Advocacy | Muscular Dystrophy Association