Table 1.

Patients for whom Padua NDD lab identified at least one causative or potentially disease variant in the answer key, summarized by phenotype. Each variant is specific for each patient and one patients can be associated to more than one phenotype.

Phenotype	Patients	Disease causing	Putative	Contributing factor	All variants
ID	49	25	18	12	55
ASD – Autistic traits	31	14	12	10	36
Epilepsy	18	9	8	2	19
Microcephaly	8	5	2	1	8
Macrocephaly	4	4	0	0	4
Hypotonia	6	4	1	1	6
Ataxia	3	1	2	1	4