Table 1b. Sibling studies (23 families; N=50).

Family	Age (years)	Sex	Clinical info	Chromosomes involved	Size (Mb)	% Of total genome 2700 Mb	Concordant
1	26	F	Branch chain amino acid disease	MULTIPLE	200	7.4%	No
	15	F	N/A	MULTIPLE	301	11.1%
2	8	F	N/A	MULTIPLE	112	4.1%	No
	6	M	Mental retardation, behavior problem, speech delay, seizure disorder, right undescended testicle, parents are double first cousins	MULTIPLE	365	13.5%
3	2	F	N/A	MULTIPLE	877	32.5%	Yes
	2	F	N/A	MULTIPLE	876	32.4%
	2	F	N/A	MULTIPLE	876	32.4%
4	15	F	N/A	MULTIPLE	65	2.4%	Yes
	5	M	N/A	MULTIPLE	36	1.3%
5	3	M	N/A	MULTIPLE	53	2.0%	Yes
	2	F	N/A	MULTIPLE	78	2.9%
6	10	M	Cleft lip and learning disabilities, speech delay, maternal aunt cerebral palsy	MULTIPLE	51	1.9%	Yes
	3	M	Speech delay; cleft lip; notable family history	MULTIPLE	48	1.8%
7	6	M	Developmental delay; speech delay; autism spectrum disorder	MULTIPLE	28	1.0%	Yes
	4	M	N/A	MULTIPLE	13	0.5%
8	5	F	N/A	MULTIPLE	27	1.0%	No
	6	M	N/A	1	10
9	3	M	Mental retardation	22	10		No
	5	M	N/A	18	11
	7	M	Mental retardation	MULTIPLE	39	1.4%
10	11	F	Heart murmur, abnormal eye findings, nystagmus, pale fundus, depressed nasal bridge, open mouth, long fingers vision loss, light sensitivity	MULTIPLE	31	1.1%	No
	12	M	Heart murmur, prominent forehead, café-au-lait spots, abnormal eye findings, nystagmus, pale fundus, full lips, open mouth, cone dystrophy	MULTIPLE	395	14.6%
11	2	M	N/A	MULTIPLE	52	1.9%	No
	7	F	N/A	17	21
12	6	M	N/A	1	33		No
	11	M	Autism	MULTIPLE	26	1.0%
13	5	M	developmental delay; autism spectrum disorder; macrocephaly	13	16		Yes
	7	F	developmental delay; autism spectrum disorder	13	16
14	12	M	Developmental delay, speech delay, learning disability, brother is OSA12-11556 with segments of homozygosity	MULTIPLE	160	5.9%	No
	8	M	developmental delay; speech delay; learning disability; long bulbous tip nose	MULTIPLE	67	2.5%
15	5	M	Autism	MULTIPLE	148	5.5%	Yes
	3	M	Speech delay	MULTIPLE	204	7.6%
16	14	M	N/A	MULTIPLE	873	32.3%	No
	8	F	N/A	MULTIPLE	602	22.3%
	10	F	N/A	MULTIPLE	612	22.7%
17	6	F	N/A	MULTIPLE	194	7.2%	Yes
	3	F	N/A	MULTIPLE	186	6.9%
18	5	M	N/A	MULTIPLE	39	1.4%	No
	17	F	N/A	MULTIPLE	427	15.8%
	13	F	N/A	MULTIPLE	28	1.0%
19	7	F	Developmental delay	MULTIPLE	61	2.3%	No
	8	F	Developmental delay	10	16
20	3	M	Developmental delay, speech and motor delay, hypertonic, adducted thumbs, supernumerary nipple, hepatosplenomegaly, history of low platelets, parents are cousin	MULTIPLE	289	10.7%	Yes
	6	M	Intellectual disability, developmental delay, microcephaly, severe speech and motor delay, strabismus, pectus excavatum, prominent eyes, prenatal IUGR, parents are first cousin	MULTIPLE	329	12.2%
21	7	M	N/A	MULTIPLE	31	1.1%	Yes
	15	F	N/A	MULTIPLE	26	1.0%
22	10	M	N/A	MULTIPLE	46	1.7%	Yes
	1	M	Pyridoxamine 5′-phosphate oxidase deficiency	MULTIPLE	57	2.1%
23	24	F	N/A	MULTIPLE	61	2.3%	Yes
	26	M	N/A	MULTIPLE	61	2.3%