Table 2:

Neuroradiologic findings identified in a cohort of 7 unrelated individuals with ZTTK syndrome

	Individuals
	1	2	3	4	5	6	7
PVNH	Sparse; bilateral; FH	Sparse; bilateral; FH, midbody, peritrigonal	Sparse; bilateral; FH, TH	Sparse; bilateral; FH, midbody	Sparse; bilateral; FH, TH, peritrigonal	Single; unilateral; right FH	Sparse; unilateral; left FH
Vermis height (centile)²¹	50–97	>97	>97	>97	>97	50	50
Vermis diameter (centile)²¹	>97	50–97	>97	>97	>97	>97	>97
Cerebellar tonsils	Normal	Normal	Normal	Herniated	Normal	Herniated	Normal
Posterior fossa	Abnormal shape	Abnormal shape; cyst	Normal	Abnormal shape; cyst	Abnormal shape	Abnormal shape; cyst	Normal
Corpus callosum diameter (centile)²⁰	<3	50–97	<3	50–97	50–97	<3	50–97
Genu diameter (centile)²⁰	3–50	<3	<3	<3	50–97	<3	<3
Pituitary gland	Small	Small	Small	Small	Small	Normal	Normal
Pituitary stalk	Normal	Elongated	Elongated	Elongated	Elongated	Normal	Elongated
Caudate nuclei	Dysmorphic	Dysmorphic	Dysmorphic	Dysmorphic	Dysmorphic	Normal	Small
Caudate heads	Malrotated	Malrotated	Malrotated	Malrotated	Malrotated	Large	Normal
Hippocampi	Small and malrotated	Small and malrotated	Small and malrotated	Small and malrotated	Normal sized; LIA	Normal sized; LIA	Small; LIA
Lentiform nucleus	Normal-sized	Small globus pallidus	Normal-sized	Small globus pallidus	Small	Small globus pallidus	Normal-sized
Lateral ventricles	Dysmorphic; large FH; small OH	Dysmorphic; large FH and OH	Dysmorphic; large FH	Dysmorphic; large FH	Dysmorphic; large FH	Dysmorphic; large OH	Large FH
Third ventricle	Small	Dilated	Small	Dilated	Small	Normal	Small
Fourth ventricle	Small	Small	Small	Small	Small	Small	Small
Cortex malformations	Abnormal temporal lobe sulcation	Bilateral PS-PMG; thick PS cortex	Bilateral PS-dysgyria; thick PS cortex	Bilateral PS-PMG	Bilateral PS-PMG	Bilateral PS-dysgyria; thick PS cortex	Thick PS cortex
WM volume	Normal	Decreased	Decreased	Decreased	Normal	Normal	Decreased
Myelination	Normal	Normal	Delayed	Normal	Delayed	Normal	Delayed

Note:—FH indicates frontal horns; TH, temporal horns; OH, occipital horns; PS, perisylvian; PMG, polymicrogyria; LIA, lack of internal architecture.