Table 2 Summary of clinical features of individuals with de novo variants in GNAI1.

Individual	Sex	Variant	DD	Delayed sitting	Delayed walking	Language delays	Intellectual disabilities	Autism	Seizures	Tone	MRI anomalies
1	M	p.(Gly40Arg)	+	nr	nr	nr	nr	+	+	Hypotonia	+
2	F	p.(Gly40Arg)^	+	nr	−	−	−	+	−	Hypotonia	nr
3	M	p.(Gly40Cys)	+	nr	+	Nonverbal	S	+	+	Normal	+
4	F	p.(Gly40Cys)	P	Not achieved	Not achieved	Nonverbal	S	nr	+	Hypertonia	+
5	M	p.(Gly45Asp)	+	+	+	Nonverbal	nr	+	+	Hypotonia	−
6	F	p.(Thr48Lys)	+	+	+	Nonverbal	P	−	+	Hypotonia	+
7	M	p.(Thr48Lys)	+	+	Not achieved	Nonverbal	nr	−	+	Hypotonia	nr
8	M	p.(Thr48Lys)	P	Not achieved	Not achieved	Nonverbal	P	nr	+	Hypotonia	+
9	M	p.(Thr48Ile)	+	+	−	Nonverbal	S	+	−	Hypotonia	−
10	F	p.(Thr48Ile)	+	−	+	+	nr	−	−	Hypotonia	−
11	M	p.(Gln52Pro)	+	+	Not achieved	Nonverbal	S	+	+	Hypotonia	+
12	F	p.(Ser75del)	S	+	Not achieved	Nonverbal	S–P	−	+	Hypotonia	−
13	M	p.(Gln172del)	P	Not achieved	Not achieved	Nonverbal	S–P	−	+	Hypotonia	+
14	F	p.(Gln172del)	+	+	−	Nonverbal	S	−	−	nr	nr
15	F	p.(Asp173Val)	+	−	+	+	Mi	−	+	Hypotonia	−
16	F	p.(Glu186_Phe189del)	+	−	+	Nonverbal	+	−	nr	Hypotonia	nr
17	F	p.(Cys224Tyr)	Mo–S	+	−	+	Mo–S	−	+	Hypotonia	−
18	F	p.(Cys224Tyr)	+	+	+	−	Mo	+	−	Hypotonia	−
19	F	p.(Lys270Arg)	+	+	+	+	Mo	−	+	Hypotonia	−
20	M	p.(Lys270Arg)	+	+	+	Nonverbal	S	−	+	Hypotonia	−
21	M	p.(Lys270Asn)	+	Not achieved	Not achieved	Nonverbal	Mo	−	+	Hypotonia	+
22	F	p.(Ile278AsnfsX20)	P	Not achieved	Not achieved	Nonverbal	S–P	−	+	Hypotonia	+
23	F	p.(Ala326Pro)	+	+	+	+	Mi	−	−	Hypotonia	−
24	F	p.(Val332Glu)	+	+	Not achieved	Nonverbal	+	nr	+	Hypertonia	+
Totals	24/24	18/21	19/23	21/23	20/20	7/21	17/23	22/23	10/20

DD developmental delay, F female, M male, Mi mild, Mo moderate, MRI magnetic resonance image, nr not reported, P profound, S severe, + present, − absent, ^ somatic mosaic variant.

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