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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease microcephaly
Comorbidity C1704423|congenital lymphedema
Sentences 2
PubMedID- 22284827 Mutations in kif11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
PubMedID- 25764055 Autosomal dominant microcephaly associated with congenital lymphedema and chorioretinopathy due to a novel mutation in kif11.

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