muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.
Definition from the Mondo Disease Ontology (MONDO:0013160), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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 vermis hypoplasiaHPOHP:0001320
- 4 of 4 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients · Congenital onset
- Inability to walkHPOHP:0002540
- 4 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- Severe intellectual disabilityHPO
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
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
- Also called
- congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2congenital muscular dystrophy-POMT2 related