Table 3.

Phenotypic characteristics of DYRK1A

	Pub-SNV and UW-SNV (n = 42)			Pub-CHR (n = 19)			Total (n = 61)
Phenotypic characteristic	N	Total	%	N	Total	%	N	Total	%	Sig (Fisher’s exact tests)
Intellectual disability or Global Developmental Delay	41	42	98	19	19	100	60	61	98	NS
Speech delay	42	42	100	19	19	100	61	61	100	NS
Motor difficulties	38	38	100	14	15	93	52	53	98	NS
Microcephaly	39	42	93	19	19	100	58	61	95	NS
Feeding difficulties	37	40	93	14	14	100	51	54	94	NS
Vision abnormalities	26	33	79	8	9	89	34	42	81	NS
Seizures	26	39	67	16	19	84	42	58	72	NS
ASD diagnosis	16	35	46	2	7	29	18	42	43	NS
Stereotyped behaviors	22	36	61	4	9	44	26	45	58	NS
Anxious behaviors	11	36	31	1	8	13	12	44	27	NS
Hyperactive behaviors	10	35	29	4	8	50	14	43	33	NS
Behavioral differences	35	42	83	7	19	37	42	61	69	NS
6+ symptoms including ASD	25	42	60	7	19	37	32	61	52	NS
6+ symptoms including broader behavioral difficulties	32	42	76	10	19	53	42	61	69	NS

Frequency of phenotypic features in cases with disruptive SNVs (Pub-SNV and UW-SNV) to DYRK1A, published chromosomal rearrangements (Pub-CHR) to DYRK1A, and total combined cases. Totals reflect those with complete data. Groups did not significantly differ in gender ratio (Fisher’s exact test) or age (independent sample t test), p > 0.05. Fisher’s exact tests used for group comparisons, Sig significance, NS not significant