Phenotype #0000311203
| Individual ID |
00419936 |
| 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; cleft palate; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment, optic nerve atrophy; no nystagmus; strabismus; developmental delay; intellectual disability; hypotonia; sensorineural hearing impairment; 2m-onset seizures, focal tonic seizures; EEG-multifocal spikes arising from both central regions; microdontia, Riga-Fede; osteopenia; no scoliosis; low level of IgG; 367 (16m), 487 (20m), normal IgA, IgM; recurrent infections; hypoventilation; apnea; atrial septal defect, PFO, PDA; bicuspid aortic valve; constipation; gastroesophageal reflux; hepatomegaly; hypoalbuminemia; mild elevated AST and ALT; hydronephrosis; no hypoplastic genitalia; congenital hypothyroidism secondary to an ectopic thyroid gland treatment; line associated thrombus, thrombocytopenia, APTT 43 sec (25-35), ATIII 135 % (75-125), F8 163 (50-150); GI bleeding, gut dysmotility |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
1y6m (1 year, 6 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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