Neurological outcome in WDR62 primary microcephaly.
Lyse RuaudSéverine DrunatMonique Elmaleh-BergèsAnais ErnaultSophie Guilmin-Créponnull nullVincent El GhouzziStėphane AuvinAlain VerloesSandrine PassemardPublished in: Developmental medicine and child neurology (2021)
WDR62-related cognitive consequences may be less severe than expected because 3 out of 11 of the assessed patients had only mild intellectual disability and relatively preserved abilities of autonomy in daily life. We identified progressive ataxia in the second decade of life in one patient, which should encourage clinicians to follow up patients in the long term.