University of Cape Town
06 Rare _ Developmental Disorders Toolkit (738.33 kB)

H3Africa PHWG Data Collection Toolkit - Rare & Developmental Disorders v2.0

Download (738.33 kB)
posted on 2022-11-14, 14:19 authored by Emma Wiener, Judit Kumuthini, Nihad Alsayed, Lyndon ZassLyndon Zass, Katherine JohnstonKatherine Johnston, Taryn Allie


The Rare & Developmental (R&D) Disorder toolkit can be used to collect essential phenotypes associated with R&D related research, including: Birth History, Neurodevelopmental History, Epilepsy and System Anomalies. 


The phenotype protocols contained in the toolkit range from Interviewer/Self-administered questionnaires and clinically-administered assessments. The toolkit is applicable to human participants of all life stages, though some phenotype protocols are age-specific. For more information on administration of the toolkit, see the toolkit guideline.


The toolkit consists of both existing and novel data collection standards, and was based on several existing resources. These resources are listed below:

  1. H3Africa DDD-Africa Case Report Forms
  2. H3Africa Rare Diseases WG Case Report Forms
  3. Protocol - Epilepsy Screener - Adult (
  4. Protocol - Epilepsy Screener - Child/Proxy (


H3ABioNet: a sustainable African Bioinformatics Network for H3Africa

National Human Genome Research Institute

Find out more...



Computational Biology, University of Cape Town