Phenotype #0000311211
| Individual ID |
00419944 |
| Associated disease |
CDG |
| Diagnosis/Initial |
congenital disorder of glycosylation |
| Diagnosis/Definite |
CDG2B |
| Phenotype details |
see paper; ..., no brachycephaly; no short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; no high-arched palate; smooth philtrum; no downturned corner of mouth; retrognathia; hirsutism; no hand or finger deformities; no limb and foot defomities; cortical visual impairment; nystagmus; strabismus; hypermetropic astigmatism; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; 2w-onset seizures, tonic seizures, epileptic spasm, focal status; EEG-1m-burst supression and multifocal epileptiform activity; large overbite; no bone abnormalties; no scoliosis; normal IgM, low IgG, IgA; no recurrent infections; no hypoventilation; no apnea; perimembranous ventricular septal defect (closed by 17m); constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild transient elevated AST; no aminoaciduria; |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
5y2m (5 years, 2 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 |
|
