Table 1.

WDR62 Primary Microcephaly: Frequency of MRI Findings by Cohort

MRI FindingCohort 1
[Ruaud et al 2022] 1		Cohort 2
Literature review 2
All types of malformations of cortical development 313/15 (87%)41/51 (80%)
• Pachygyria10/15 (67%)12/51 (24%)
• Simplified gyral pattern8/15 (53%)15/51 (29%)
• Severe malformations of cortical development 45/15 (33%)18/52 (35%)
  ◦ Polymicrogyria3/15 (20%)9/51 (18%)
  ◦ Schizencephaly1/15 (7%)5/51 (10%)
  ◦ Lissencephaly1/15 (7%)3/51 (6%)
  ◦ Neuronal heterotopia1/15 (7%)6/51 (12%)
Hypoplastic/dysgenetic corpus callosum3/15 (20%)22/51 (43%)
Unilateral/bilateral ventricular enlargement3/15 (20%)9/51 (18%)
1.

Ruaud et al [2022] described 17 individuals from 14 families newly diagnosed with WDR62 primary microcephaly. The table provides information on the 15 individuals for whom data are available.

2.
3.

Including pachygyria, simplified gyral pattern, and severe malformations of cortical development

4.

Including polymicrogyria, schizencephaly, lissencephaly, and neuronal heterotopia

From: WDR62 Primary Microcephaly

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