Phenotype #0000311209
| Individual ID |
00419942 |
| Associated disease |
CDG |
| Diagnosis/Initial |
congenital disorder of glycosylation |
| Diagnosis/Definite |
CDG2B |
| Phenotype details |
see paper; ..., no brachycephaly; no short palperal fissure; long eyelashes; no broad nasal tip or nasal arch; ; no visual impairment; no nystagmus; no strabismus; hyperopia; developmental delay; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; no seisures; EEG-normal; no dental abnormalties; no bone abnormalties; no scoliosis; low level of IgG, IgA, IgM; no recurrent infections; no hypoventilation; central and obstructive apnea; cardiac abnormalities; no constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; no hypoplastic genitalia; laryngomalacia, central apnea |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
1y4m (1 year, 4 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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