Table 1.

CHAMP1 variants and clinical presentation.

Patients	Sex	Mutation	Muscle hypotonia	Microcephaly	Delay in walking (>18m)	Impaired speech development	Eye anomalies	Brain MRI	Seizure	Abnormal behavior	Dysmorphic facial features	Reference
1	F	c.542_543delCT p.Ser181*	−	+	+	+	Strabismus	N/A	Febrile seizures	Skin-picking, rituals, food-foraging	N/A	Tanaka et al.2
2	F	c.635delC p. Pro212*	+	+	−	+	Hyperopia, astigmatism	Normal	−	Friendly, hand stereotypy, tacle hypersensitivity, sexual self-stimulation	+	Hempel et al.1
3	F	c.958_959delCC, p.Pro320*	N/A	−	+	+	N/A	non specific patchy signal abnormalities in right parieto-occipital subcortical white matter, bulky corpus callosum autistic behavior	−	+	+	Isdor et al.3
4	M	c.1002G>A p.Trp334*	N/A	−	+	+	Hyperopia, strabismus	Normal	−	-	−	Isdor et al.3
5	F	c.1043G>A, p.Trp348*	N/A	+	+	+	Hyperopia, astigmatism	thickening of the corpus callosum, subtle hypoplasia of the left temporal lobe	−	+	+	Isdor et al.3
6	F	c.1044delG p.Trp348*	+	+	−	+	−	Hypoplastic corpus callosum	−	Aggressive, occasionally self injurious	N/A	Tanaka et al.2
7	M	c.1192C>T p.Arg398*	+	+	+	+	Strabismus, hyperopia	Normal	−	Friendly	+	Hempel et al.1
8	F	c.1192C>T p.Arg398*	+	−	−	+	Hyperopia, astigmatism	Normal	−	Friendly	+	Hempel et al.1
9	F	c.1465C>T, p.Gln489*	−	+	+	+	−	mild atrophy of the cerebrum and cerebellum	−	Friendly	−	This case
10	F	c.1489C>T, p.Arg497*	N/A	−	+	+	Amblyopia	N/A	N/A	−	+	Isdor et al.3
11	M	c.1768C>T p.Gln590*	+	+	+	+	Impaired	delayed myelination	Fromtotemporal epilepsy	Hand stereotypy, friendly	+	Hempel et al.1
12	M	c.1866_1867delCA p.Asp622*	+	+	+	+	Strabismus, hyperopia	Mild brain atrophy and cerebellar cortical dysplasia	−	Hand stereotypy, friendly	+	Hempel et al.1
13	F	c.1876_1877delAG; p.Ser626*	N/A	+	+	+	Hyperopia, astigmatism	arachnoid cyst	+	+	+	Isdor et al.3
14	M	c.1880C>G p.Ser627*	N/A	+	+	+	Hyperopia, astigmatism, strabismus	Normal	−	−	+	Isdor et al.3
15	F	c.1945C>T p.Gln649*	+	−	+	+	Ocuular albinism	Normal	−	ADD/ADHD	N/A	Tanaka et al.2
16	F	c.1969C>T p.Gln657*	+	+	+	+	Strabismus	Mild decreased white matter	Seizure at 3 yo	Inapropriate laughter	N/A	Tanaka et al.2
17	F	c.2029G>T p.Glu677*	+	+	+	+	Strabismus	Mild cerebellar atrophy	−	Hyperactivity	N/A	Tanaka et al.2

+ present, − absent, N/A not available, ADD/ADHD attention deficit disorder/attention deficit hyperactivity disorder.