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PedAM

Pediatric Disease Annotations & Medicines




Disease encephalopathy
Phenotype C0027819|neuroblastoma
Sentences 1
PubMedID- 24811761 A syndromic presentation associating congenital neuroblastoma with severe encephalopathy and an abnormal shape of the brainstem has been described in patients harbouring de novo germline f1174v and f1245v alk mutations.

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