Individual ID |
00385751 |
Associated disease |
CDG |
Diagnosis/Initial |
congenital disorder of glycosylation |
Diagnosis/Definite |
CDG1W |
Phenotype details |
no intrauterine growth retardation; 75th pc; no long face; high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; thin upper lip vermilion; no prognathism; no inverted nipples; abnormal fat-distribution; no motor developmental delay; no speech delay; no learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy |
Inheritance |
Familial, autosomal dominant |
Age/Examination |
3y (3 years) |
Age/Diagnosis |
3m |
Age/Onset |
- |
Phenotype/Onset |
- |
Protein |
- |
Owner name |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-10-14 19:11:47 +02:00 (CEST) |
Date last edited |
N/A |