muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

Rare Disease

MONDO:0014101

Also known as:

POMK muscular dystrophy-dystroglycanopathy, type Amuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.

Genes

Clinical Trials

–

Newborn Screening

–

Patient Groups

–

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Report Generation Failed

We couldn't automatically generate the report. This may be due to temporary service issues.

Need this data in your product?

Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.

Explore API Start Free

← Back to All Diseases

Companies Active in muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

3 companies

Organizations with orphan designations or approved therapies for this disease

Atsena Therapeutics, Inc.

Other

Designated

Opus Genetics, Inc.

Other

Designated

ProQR Therapeutics IV B.V.

Other

Designated

View all companies