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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease encephalopathy
Comorbidity C0027819|neuroblastoma
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PubMedID- 24811761 Yet, a syndromic presentation associating congenital neuroblastoma with severe encephalopathy and abnormal shape of the brainstem has now been described in two sporadic cases harbouring de novo germline f1174v and f1245v alk mutations [9].

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