muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 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 B3GALNT2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014071), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 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
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- HydrocephalusHPOHP:0000238
- 4 of 7 reported patients
- Severe muscular hypotoniaHPOHP:0006829
- 4 of 7 reported patients
- Type II lissencephalyHPOHP:0007260
- 4 of 7 reported patients
- LeukoencephalopathyHPO
Show the remaining 8
- PolymicrogyriaHPOHP:0002126
- 2 of 7 reported patients
- BlindnessHPOHP:0000618
- 1 of 7 reported patients
- CataractHPOHP:0000518
- 1 of 7 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 7 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 1 of 7 reported patients
- MyopiaHPOHP:0000545
- 1 of 7 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.
- B3GALNT2HGNC:28596
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
- Also called
- B3GALNT2 muscular dystrophy-dystroglycanopathy, type Amuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2