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PedAM

Pediatric Disease Annotations & Medicines




Disease encephalopathy
Phenotype C0035309|retinopathy
Sentences 4
PubMedID- 23383853 Cm is a neurological syndrome comprising a potentially reversible diffuse encephalopathy, associated with retinopathy and variably with convulsions and localizing neurological signs, which are poor prognostic features [3].
PubMedID- 25390512 Purpose: to report a case of subretinal deposits, paramacular atrophy, and pigmentary retinopathy associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.
PubMedID- 20236110 He had severe epileptic encephalopathy with retinopathy, autistic features and choreoathetosis.
PubMedID- 26200388 A review of systems revealed hearing difficulties and neurologic symptoms that further raised a suspicion for retinopathy associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes syndrome.

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