Table 1.

Demographics, molecular data, and phenotype of 19 patients with SNVs and small indels (<10bp) in DYRK1A identified by clinical exome sequencing

Patient number	Age (years)	Gender	Ethnicity	Nucleotide change	AA change	Novel Variant	DF/ FTT	FD	Microcephaly	Seizures	ID	DD	Renal/ GU	ASD
P1*	2.3	F	Caucasian	c.452dupT	p.N151fs	−	+	+	+	−	ukn	M,S	+	ukn
P2*	3.3	M	Caucasian	c.461delA	p.K154fs	−	+	+	+	+	+	M,S	+	+
P3	9.5	F	Caucasian	c.489_495del	p.L164fs	+	+	+	+	+	+	M,S	+	+
P4	11	M	Hispanic	c.501delA	p.G168fs	+	−	+	+	+	+	G	+	ukn
P5	2	M	Caucasian	c.517G>T	p.V173F	+	+	+	+	+	ukn	S	nRUS	ukn
P6*	5.1	M	Not specified	c.613C>T	p.R205X	−	−	+	+	−	ukn	U	+	+
P7*	7	F	Vietnamese	c.734T>G	p.L245R	−	−	+	+	−	+	M,S	+	ukn
P8	20.5	M	Caucasian	c.787C>T	p.R263X	−	+	+	+	+	+	M,S	+	+
P9	5.7	M	Caucasian	c.986_995del	p.S329fs	+	+	+	+	+	+	G	+	+
P10	9.8	M	Middle Eastern	c.1042G>A	p.G348R	+	−	+	ukn	+	+	G	nRUS	ukn
P11	13.5	M	Not specified	c.1098+1G>A	N/A	−	−	+	+	+	ukn	G	ukn	+
P12	27.1	M	Not specified	c.1162dupG	p.A388fs	−	+	ukn	+	+	+	G	+	ukn
P13	14.8	F	Not specified	c.1217_1220del	p.K406fs	+	+	ukn	ukn	+	ukn	M	ukn	+
P14	13.8	F	Not specified	c.1309C>T	p.R437X	−	−	ukn	+	−	+	M,S	ukn	ukn
P15	10.1	F	Hispanic	c.1309C>T	p.R437X	−	−	+	+	+	ukn	S	nRUS	ukn
P16	5.7	F	Filipino	c.1309C>T	p.R437X	−	−	+	+	+	+	G	nRUS	ukn
P17	19.6	F	Caucasian	c.1400G>A	p.R467Q	−	+	+	+	−	+	G	ukn	ukn
P18*	18.5	M	Caucasian	c.1399C>T	p.R467X	−	−	+	+	+	+	M,S	+	+
P19	9.4	M	Hispanic	c.1478dupT	p.S494fs	+	ukn	+	+	+	+	M,S	+	+

ASD: Autism spectrum disease (HP:0000717), DD: Developmental delays; Global (G; HP:0001263), Motor (M; HP:0001270), Speech (S; HP:0000750), Unspecified (U), DF/FTT: Difficulty feeding (HP:0011968)/ failure to thrive (HP:0001508), FD: Facial dysmorphism (HP:0001999), GU: Genitourinary; Normal renal ultrasound nRUS, Unknown ukn, + denotes phenotype observed (see Table 2 for more details), ID: Intellectual disability (HP:0001249)

^*denotes published patients²⁰