muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013904), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
10 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.
- Cerebellar hypoplasiaHPOHP:0001321
- 6 of 6 reported patients
- Muscular dystrophyHPOHP:0003560
- 6 of 6 reported patients
- Type II lissencephalyHPOHP:0007260
- 6 of 6 reported patients
- VentriculomegalyHPOHP:0002119
- 6 of 6 reported patients
- HypotoniaHPOHP:0001252
- 3 of 5 reported patients
- GlaucomaHPOHP:0000501
- 2 of 6 reported patients
- Retinal dysplasiaHPOHP:0007973
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.
- POMGNT2HGNC:25902
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
- Also called
- muscle-eye-brain-POMGNT2 relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2POMGNT2 muscular dystrophy-dystroglycanopathy, type A