Table 1.

Clinical spectrum of the ATP2B1-related disorder

Individual	Variant	Inheritance	Sex	Agea	DD	ID	Behavior	Seizures	Other
1	c.716A>G (p.Asp239Gly)	de novo	F	6 years	yes	moderate	normal	yes	secundum atrial septal defect, toe clindactyly, facial dysmorphism, hypotonia
2	c.791C>T (p.Thr264Ile)	de novo	M	8 years	yes	mild	ASD	no	transposition of large vessels, low set ears
3	c.1274C>A (p.Thr425Lys)	de novo	M	9 years	yes	mild	N/A	pathological EEG	cerebral cavernous malformation, sparse hair
4	c.1376A>G (p.His459Arg)	de novo	M	17 years	yes	mild	ASD	yes	marfanoid habitus, arachnodactyly, scoliosis, hypermobile thumb
5	c.2288G>C (p.Arg763Pro)	de novo	M	21 years	yes	mild	ASD	no	facial dysmorphism
6	c.2365C>T (p.Arg789Cys)	de novo	M	3 years	yes	unclassified	sleeping difficulties	yes	facial dysmorphism, hypotonia
7	c.2470G>A (p.Glu824Lys)	de novo	F	22 years	yes	moderate	compulsive behavior	yes	N/A
8	c.2570A>G (p.Gln857Arg)	de novo	F	3 years	yes	unclassified	normal	no	brachycephaly, facial dysmorphism, clinodactyly of the 5th finger
9	c.2972G>A (p.Arg991Gln)	unknown	M	51 years	yes	mild	ASD	no	marfanoid habitus, aortic root dilation, pectus carinatum, scoliosis, arachnodactyly, facial dysmorphism
10	c.2632C>T (p.Gln878∗)	de novo	M	6 years	yes	mild	hyperactivity	no	facial dysmorphism
11	c.458G>A (p.Trp153∗)	unknown	F	6 years	yes	moderate	N/A	no	short stature
12	c.1789C>T (p.Arg597∗)	unknown	M	5 years	yes	unclassified	ASD	infantile spasms	short stature, pectus excavatum, plagiocephaly

Abbreviations: ID, intellectual disability; DD, development delay; ASD, autism spectrum disorder; N/A, not available; M, male; F, female. Variant descriptions based on GenBank: NM_001001323.2.

^aAge of last examination.