muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 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 POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
Definition from the Mondo Disease Ontology (MONDO:0009667), read 2026-09-29. CC BY 4.0.
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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 2 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients · Congenital onset
- GlaucomaHPOHP:0000501
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HydrocephalusHPOHP:0000238
- 2 of 2 reported patients
- Midface retrusionHPO
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.
- POMGNT1HGNC:19139
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
2 names
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
- Also called
- muscle-eye-brain-POMGNT1 relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3