Table 3.

Other characteristics of the nine patients with the recurrent de novo p.Glu590Lys variant of CUX2

Patient n°	Brain MRI (age)	Head circumference (age)	Intellectual disability	Other neurological features
Patient 1 5	Normal (8 mo)	50 cm (7 years, 50th centile)	Severe	Non verbal, Movement disorder: stereotypies (hand flapping)
Patient 2	Normal (8 mo)	51 cm (13 years, 25th centile)	Never normal, Regression at 7 months and at 12 years. Profound	Non-verbal Movement disorder: athetosis, dystonia, stereotypies. Hypotonic at 1 year, then spastic tetraparesis from 12 years with loss of ambulation.
Patient 3	Cerebellar atrophy (6 mo)	56 cm (21 years, 73rd percentile)	Severe	Non-verbal. No eye contact, inappropriate laughter episodes
Patient 4	Hippocampal asymmetry (6yr 3mo)	52 cm (9 years, 44th percentile)	Never normal, severe regression at 8 years. Severe	Non-verbal. Decreased reflexes, ataxic gait
Patient 5	Normal (5 yr)	54 cm (14 years, 50th centile)	Severe	Movement disorder: stereotypies (hand flapping), obsessional features
Patient 6 6	Normal (6mo)	51 cm (7 years, 50th centile)	Severe	Ataxic gait, Movement disorder: stereotypies (hand flapping), inappropriate laughter episodes
Patient 7	Normal (16mo, 15 yr)	49,5 cm (3,5 years, 25th centile)	Severe	Non-verbal, autistic features
Patient 8	Normal (15 yr)	41 cm (0.5 years, 15th centile)	Too young to assess	Movement disorder: dyskinesia, inappropriate laughter spells, mild hypotonia
Patient 9 26	Thin posterior corpus callosum (5yr 8mo)	54 cm (14 years, 50th centile)	Severe	Non-verbal, Autistic features

Mo = months, yr =years