muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
MONDO:0013156Mondo
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
5 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 cerebral white matter morphologyHPOHP:0002500
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Generalized muscle weaknessHPOHP:0003324
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Muscular dystrophyHPOHP:0003560
Where it sits
Other names
1 name
Resolves to: muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
- Also called
- congenital muscular dystrophy-FKTN related