Phenotype #0000311206
| Individual ID |
00419939 |
| Associated disease |
CDG |
| Diagnosis/Initial |
congenital disorder of glycosylation |
| Diagnosis/Definite |
CDG2B |
| Phenotype details |
see paper; ..., no short palperal fissure; no broad nasal tip or nasal arch; no high-arched palate; no smooth philtrum; no retrognathia; hand or finger deformities; no limb and foot defomities; developmental delay; intellectual disability; hypotonia; 6m-onset seizures; EEG-epileptic cerebral dysfunction (both central regions); no scoliosis; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; aminoaciduria; no hydronephrosis; no hypoplastic genitalia; low TSH and low limit of normal T4; pancreatic dysfunction, eczema, FTT |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
3y5m (3 years, 5 months) |
| Age/Diagnosis |
- |
| 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 |
2022-10-27 12:30:38 +02:00 (CEST) |
| Date last edited |
N/A |
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