Phenotype #0000236371
| Individual ID |
00311115 |
| Associated disease |
MDDG |
| Phenotype details |
onset infantile, non-progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity normal; muscle weakness proximal upper limb and lower limb; no contractures; no scapular winging; no scoliosis; serum creatine kinase 586-1,012 U/L; muscle biopsy dystrophic; EMG myopathic |
| Diagnosis/Initial |
dystroglycanopathy |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
26y (26 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
α-DG deficiency |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-09-18 13:35:42 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|