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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease holoprosencephaly
Comorbidity C0025958|microcephaly
Sentences 1
PubMedID- 25257745 He showed microform holoprosencephaly with microcephaly, distinctive facial features, severe intellectual disabilities, behavior problems, seizures, short stature, penoscrotal transposition, and ulnar ray deficiency.

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