Phenotype #0000311202
| Individual ID |
00419935 |
| Associated disease |
CDG |
| Diagnosis/Initial |
congenital disorder of glycosylation |
| Diagnosis/Definite |
CDG2B |
| Phenotype details |
see paper; ..., no short palperal fissure; long eyelashes; broad nasal tip or nasal arch; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; no hand or finger deformities; limb and foot defomities; cortical visual impairment; nystagmus; strabismus; exotropia, dry eye; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; <2m-onset seizures, tonic seizures with eye deviation; EEG-1m-suppression-burst pattern; osteopenia; scoliosis; mildly low level of IgG 645 (698-1560), IgA 37, IgM 28; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; hepatomegaly; no hypoalbuminemia; mild elevated AST and ALT; aminoaciduria; no hydronephrosis; no hypoplastic genitalia; VitD deficiency, premature adrenarche; FXI 52% (74-157), FV 52% (53-136), protein S 50% (55-134); |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
11y1m (11 years, 1 month) |
| 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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