Table 4.

Mutated genes in the different phenotypic manifestations (ASD, epilepsy, Microcephaly, Macrocephaly, Hypotonia, and Ataxia). Some genes have been found mutated in individuals presenting phenotypic traits that have not been previously associated to these genes (highlighted in bold).

Clinical features	N° individuals affected (Tot=150)	Genes carrying causative variants	Genes carrying likely pathogenic variants
Intellectual disability
Autistic traits	73	ANKRD11, ARID1B, CASK, EHMT1, GRIA3, GRIN2B, MECP2, MED13L (ASH1L), SHANK3, SYNGAP1	ANKRD11, CHD8, FOXP1 (CNTNAP2), DEAF1, GRIN2B, KATNAL2, PHF8, PTEN, SCN2A
Epilepsy	40	ANKRD11, EHMT1, GRIA3, MECP2, OPHN1, RAB39B, SETBP1, SYNGAP1, TRIO	ANKRD11, CASK, CHD8, CREBBP, GAD1, SCN2A, SHANK2
Microcephaly	19	ARID1B, CASK, DYRK1A, MECP2, TRIO	CHD8, CREBBP, SHANK2
Macrocephaly	12	ATRX, GRIA3, GRIN2B, TRIO	-
Hypotonia	28	CASK, DYRK1A, EHMT1, MECP2, TRIO	-
Ataxia	11	MECP2	GAD1