PedAM
Pediatric Disease Annotations & Medicines
| Disease | hypotonia |
| Phenotype | C0028738|nystagmus |
| Sentences | 2 |
| PubMedID- 24701066 | On admission she was confused and physical examination revealed restricted ocular movements, bilateral convergent, and horizontal nystagmus with hypotonia of all four limbs. |
| PubMedID- 24974158 | Method: a male patient showed pendular nystagmus, infantile hypotonia, an abnormal pattern of brain auditory evoked potential, and hypomyelination on brain magnetic resonance imaging, which suggested pelizaeus-merzbacher disease (pmd) as the candidate diagnosis; however, no abnormality was found in the proteolipid protein 1 gene (plp1) that is responsible for pmd. |
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