PedAM
Pediatric Disease Annotations & Medicines
| Disease | epilepsy |
| Phenotype | C0410528|skeletal dysplasia |
| Sentences | 1 |
| PubMedID- 21362473 | We found a distinctive spectrum of congenital disorders of glycosylation type 2-associated anomalies including sudden hearing loss, brain malformations, wrinkled skin, and epilepsy in combination with skeletal dysplasia, dilated cardiomyopathy, sudden cardiac arrest, abnormal copper and iron metabolism, and endocrine abnormalities in our patients. |
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