Table 3. Findings in cases with confirmed autosomal recessive disorders.

Case	Age	Sex	Result	Interpretation	Chromosomes involved	ROH size (Mb)	AR disorders	OMIM	Gene	Chr band	Coordinates for relevant HMZ segment [hg19]	Mutation
1	3 Years	F	No CNV, multiple ROH	IBD	Multiple	101	Laron dwarfism	262500	GHR	5p13.1-p12	5p15.1p12 (17 228 907–43 820 935) × 2 hmz	NM_000163.4:c.181C>T [p.(Arg61*)]
2 (twin sibling of case 1)	3 Years	M	No CNV, multiple ROH	IBD	Multiple	84	Laron dwarfism	262500	GHR	5p13.1-p12	5p15.1p12 (17 228 907–43 820 935) hmz	NM_000163.4:c.181C>T [p.(Arg61*)]
3	3 Years	M	No CNV, multiple ROH	IBD	Multiple	147–167	Primary, autosomal recessive microcephaly 1	251200	MCPH1	8p23.2	8p23.1p11.1 (8 107 313–43 778 914) × x2 hmz	chr8.hg19:g.(6060654_6061169)_(6310738_6317266)del
4	18 Days	M	Copy number gains at Xq28 and 10q26.11-q26.12, copy number loss at 16q23.1, multiple ROH	IBD	Multiple	284	3-methylglutaconic aciduria, type I	250950	AUH (nuclear gene encoding mitochondrial protein)	9q22.31	9q22.2q31.1 (93 622 149–107 626 389) × 2 hmz	NM_001698.2:c.373C>T, [p.(Arg125Trp)]
5	23 Days	M	One copy number gain at 15q13.3 with multiple ROH	IBD	Multiple	309.6	Mucolipidosis II alpha/beta	252500	GNPTA, GNPTAB	12q23.2	12q23.2q23.3(101 918 980–108 990 019) × 2 hmz	Not confirmed
6	6 Months	M	One copy number loss at 5p15.2 with multiple ROH	IBD	Multiple	30	Bare lymphocyte syndrome, type II, complementation group D	209920	RFXAP	13q13.3	13q13.2q14.13 (35 347 597–46 817 366) × 2 hmz	NM_000538.3:c.323T>A, [p.(Leu108*)]
7	7 Years	F	No CNV, multiple ROH	IBD	Multiple	15.4	Bardet-Biedl syndrome 4	209900	BBS4	15q23	15q23q25.1 (71 062 832–81 339 871) × 2 hmz	Not confirmed
8	5 Years	F	Triplication of 9q21.11-q21.33 with ROH on chromosome 9 only	UPD	9	54	Citrullinemia	215700	ASS1	9q34.11	9q21.33q34.3(86 956 612–140 955 352) × 2 hmz	NM_000050.4:c.571G>A, [p.(Glu191Lys)]
9	24 Days	F	UPD16	UPD	16	WHOLE	Bardet-Biedl syndrome 2	209900	BBS2	16q12.2	16q11.2q24.3(46 464 488–90 163 275) × 2 hmz	NM_031885.3:c.1770delT, [p.(Phe590Leufs*8)]

Abbreviations: ASS1, argininosuccinate synthetase 1; AUH, AU-specific RNA-binding protein; BBS2, Bardet-Biedl syndrome-2; BBS4, Bardet-Biedl syndrome-4; GHR, growth hormone receptor; GNPTA, N-acetylglucosamine-1-phosphotransferase; MCPH1, microcephalin; RFXAP, regulatory factor X-associated protein.