muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
MONDO:0014141Mondo
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 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
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
24 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Muscle weaknessHPOHP:0001324
- 4 of 4 reported patients
- Decreased fetal movementHPOHP:0001558
- 3 of 4 reported patients
- StrabismusHPOHP:0000486
- 3 of 4 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 2 of 4 reported patients
- HypotoniaHPOHP:0001252
- 2 of 4 reported patients
- Poor head controlHPOHP:0002421
- 2 of 4 reported patients
- PtosisHPOHP:0000508
- 2 of 4 reported patients
- SeizureHPOHP:0001250
- 2 of 4 reported patients
- CataractHPOHP:0000518
- 1 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 4 reported patients
Show the remaining 12
- HypertoniaHPOHP:0001276
- 1 of 4 reported patients
- Ileal atresiaHPOHP:0011102
- 1 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 4 reported patients
- Motor delayHPOHP:0001270
- 2 of 8 reported patients
- NystagmusHPOHP:0000639
- 1 of 4 reported patients
- Prolonged QT intervalHPOHP:0001657
- 1 of 4 reported patients
Where it sits
Other names
1 name
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
- Also called
- congenital muscular dystrophy-GMPPB related