Phenotype #0000311208
| Individual ID |
00419941 |
| Associated disease |
CDG |
| Diagnosis/Initial |
congenital disorder of glycosylation |
| Diagnosis/Definite |
CDG2B |
| Phenotype details |
see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; no retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment; no nystagmus; no strabismus; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; no seisures; EEG-abnormal; no dental abnormalties; no bone abnormalties; no scoliosis; hypogammagloblinemia, transient; no recurrent infections; noctural hypoxemia; no apnea; cardiac abnormalities; constipation; hepatomegaly; no hypoalbuminemia; mild transient elevated AST and ALT; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia; laryngomalacia, G-tube, swallow dysfunction, mild pectus excavatum |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
1y11m (1 year, 11 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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