Phenotype #0000311201
| Individual ID |
00419934 |
| 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; -; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment, optic nerve atrophy; nystagmus; strabismus; astigmatism, exotropia, dry eye; developmental delay; intellectual disability; hypotonia; neuropathy; sensorineural hearing impairment; 2d-onset seizures, focal seizures; EEG-alternating epileptiform activity in both hemisphere; hyperdontia; osteopenia; scoliosis; low level of IgG (142), IgA (17), IgM (21); recurrent infections; no hypoventilation; no apnea; dilated aortic root; constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; no aminoaciduria; hydronephrosis; no hypoplastic genitalia; premature adrenarche, hyperinsulinemia; |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
10y11m (10 years, 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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