Table 4.

Phenotypic comparisons of DYRK1A to idiopathic ASD

	Total DYRK1A sample (n = 61)		DYRK1A ascertained for ASD (n = 18)		SSC idiopathic ascertained for ASD (n = 1981)		Sig (total DYRK1A vs idio total)	SSC idiopathic ASD with IQ < 70 (n = 487)		Sig (total DYRK1A vs idio IQ < 70)
Phenotypic characteristic	N/total	%	N/total	%	N/total	%		N	%
Intellectual disability or Global Developmental Delay	60/61	98	18/18	100	487/1974	25	p < 0.001	487/487	100	–
Speech delay	61/61	100	18/18	100	1173/1981	59	p < 0.001	343/487	70	p < 0.001
Motor difficulties	52/53	98	18/18	100	963/1981	49	p < 0.001	253/487	52	p < 0.001
Microcephaly	58/61	95	16/18	89	31/1958	2	p < 0.001	10/485	2	p < 0.001
Feeding difficulties	51/54	94	16/18	89	386/1981	19	p < 0.001	112/487	15	p < 0.001
Vision abnormalities	34/42	81	16/18	67	355/1981	18	p < 0.001	60/487	12	p < 0.001
5+ symptoms	48/61	79	16/18	89	6/1981	0.30	–	5/487	1	–

Frequency of core phenotypic features (included if reported in 75% or more cases) observed in total DYRK1A sample (Pub-SNV, UW-SNV, and Pub-CHR) compared to frequency of same features in those with DYRK1A mutations ascertained for ASD, a large sample of cases with idiopathic ASD from the Simons Simplex Collection (ascertained for ASD), and a subset of idiopathic cases with IQ < 70. Totals reflect those with complete data. Fisher’s exact tests used to compare total DYRK1A sample to both idiopathic samples on each phenotypic characteristic; all group differences significant, p < 0.001. Sig significance