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J Med Genet 39:718-721 doi:10.1136/jmg.39.10.718
  • Original article

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

Table 3

Mean head circumference measurement for families linked to each MCPH locus. The mean head circumference is corrected for age and sex. Only families with >1 affected member are included to reduce the effect of incorrect clinical diagnosis. MCPH4 is not shown as none of the study families were linked. “Unknown MCPH” includes all families not linked to a known MCPH locus

MCPH locus No of multi-affected families Mean head circumference 
 (SD (range))
MCPH1 2 −8.5 (−7 to −10)
MCPH2 6 −6.5 (−4 to −9)
MCPH3 1 −7
MCPH5 19 −7.5 (−4 to −11)
Unknown MCPH 14 −5.5 (−4 to −9)

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