Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Definition

An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.

Also known as MDDGA2, muscle-eye-brain-POMT2 related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Musculature Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculature Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0