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. |
Page: 1