muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
MONDO:0013159Mondo
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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
- 5 of 5 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 5 of 5 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 5 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 2 of 2 reported patients
- Inability to walkHPOHP:0002540
- 5 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 5 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 5 of 5 reported patients
- Calf muscle hypertrophyHPOHP:0008981
- 4 of 5 reported patients
- MacroglossiaHPOHP:0000158
- 2 of 3 reported patients
- HydrocephalusHPOHP:0000238
- 3 of 5 reported patients
- MyopiaHPOHP:0000545
- 3 of 5 reported patients
- Focal cortical dysplasiaHPOHP:0032046
- 1 of 2 reported patients
Show the remaining 4
- Absent speechHPOHP:0001344
- 2 of 5 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 5 reported patients
- MicrophthalmiaHPOHP:0000568
- 0 of 5 reported patients
- Retinal dystrophyHPOHP:0000556
- 0 of 5 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.
- POMT1HGNC:9202
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
- Also called
- congenital muscular dystrophy-POMT1 related