muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013154), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CataractHPOHP:0000518
- 3 of 3 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- HydrocephalusHPOHP:0000238
- 3 of 3 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Muscular dystrophyHPOHP:0003560
- 1 of 1 reported patient
- Type II lissencephalyHPOHP:0007260
- 2 of 2 reported patients
- BuphthalmosHPO
Show the remaining 3
- Partial absence of cerebellar vermisHPOHP:0002951
- 1 of 3 reported patients
- Persistent pupillary membraneHPOHP:0009917
- 1 of 3 reported patients
- Peters anomalyHPOHP:0000659
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- POMT2HGNC:19743
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
5 names
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
- Also called
- MDDGA2muscle-eye-brain-POMT2 relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related