Table 3

Neuroimaging features in subjects with CC2D2A-related JS

Feature	CC2D2A	Poretti 2011 JS35	Poretti 2011 OFD35
Supratentorial findings
Ventriculomegaly	13/17	4/71	2/4
Agenesis of the corpus callosum	1/13	1/71	0/4
Dysgenesis of the corpus callosum	6/13	5/71	0/4
Polymicrogyria	3/12^*	1/71	3/4
Periventricular nodular heterotopias	2/13	2/71	1/4
Transmantle heterotopias	1/13	0/71	0/4
White matter increased T2/FLAIR signal	3/12	ND	ND
Infratentorial findings
Asymmetrical cerebral peduncles	2/13	10/71	2/4
Occipital cephalocele	1/13	8/71	1/4
Retrocerebellar fluid collection	2/13	14/71	3/4
Brainstem and midbrain heterotopias	3/13^†	3/71	0/4
Foramen magnum cephalocele	2/13	5/71	1/4
Prominence at cervicomedullary junction	2/13	2/71	1/4

↵* Imaging was not sufficient to identify or exclude polymicrogyria in one imaging study.
↵† One interpeduncular, one cerebral peduncle, one pontomedullary.
JS, Joubert syndrome; OFD, oral-facial-digital syndrome.