muscular dystrophy-dystroglycanopathy type B6
Findings
No curated finding names muscular dystrophy-dystroglycanopathy type B6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
Definition from the Mondo Disease Ontology (MONDO:0012138), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
21 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.
- Abnormal periventricular white matter morphologyHPOHP:0002518
- 1 of 1 reported patient
- Abnormality of neuronal migrationHPOHP:0002269
- 1 of 1 reported patient
- Achilles tendon contractureHPOHP:0001771
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Bimanual synkinesiaHPOHP:0001335
- 1 of 1 reported patient
- Calf muscle hypertrophyHPOHP:0008981
- 1 of 1 reported patient
- Decreased light- and dark-adapted electroretinogram amplitude
Show the remaining 9
- Horizontal nystagmusHPOHP:0000666
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient · Infantile onset
- Lower limb hyperreflexiaHPOHP:0002395
- 1 of 1 reported patient
- PachygyriaHPOHP:0001302
- 1 of 1 reported patient
- Profound intellectual disabilityHPOHP:0002187
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
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.
- LARGE1HGNC:6511
- Definitive · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: muscular dystrophy-dystroglycanopathy type B6
- Also called
- MDC1DMDDGB6muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6