muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
MONDO:0033556Mondo
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 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
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.
- Abnormal periventricular white matter morphologyHPOHP:0002518
- 1 of 1 reported patient
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 1 reported patient
- Delayed ability to standHPOHP:0025335
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Generalized non-motor (absence) seizureHPOHP:0002121
- 1 of 1 reported patient
- Highly elevated creatine kinaseHPOHP:0030234
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- MyopathyHPOHP:0003198
- 1 of 1 reported patient