MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Clinical study information & forms

Research study documents

Inclusion criteria for our study:

  • a head circumference of less than 4 standard deviations below the mean (-4 SD)

Please use the growth charts below to work out standard deviations.

Our priority is particularly patients with microcephaly and short stature (height < -2 SD, ideally < -4 SD) but we screen all microcephaly patients that we receive for novel disease genes as we find them.

Exclusion criteria includes:

  • a known diagnosis
  • cytogenetic abnormality on CGH
  • a clear environmental factor (eg. birth hypoxia, congenital viral infections, etc.)

 

Pdf packs 

(containing patient information, consent forms, sample sending instructions and growth charts)

 

Growth charts

 

GDPR information

 

Access to genotype data