Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay

Mindy H. Li*, Kelly Arndt, Soma Das, Elliott M. Weiss, Yaning Wu, Kriti Gwal, Karuna V. Shekdar, Elaine H. Zackai

*Corresponding author for this work

Research output: Contribution to journalLetterpeer-review

3 Scopus citations
Original languageEnglish (US)
Pages (from-to)1414-1417
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number6
StatePublished - Jun 1 2015


  • Autosomal recessive primary microcephaly (MCPH)
  • CDK5RAP2
  • Developmental delay
  • Failure to thrive
  • Microcephaly
  • Speech delay

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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