Table 3.

Presentation of genotypes of patients with BBS.

Patient ID	Sex	Gene	Zygosity	Variant details	ClinVar interpretation	Current age	Age of the patient at the time of diagnosis	Clinical reason for genetic testing
P1	Male	BBS10	Homozygous	NM_024685.4 (BBS10):c.145C>T (p.Arg49Trp)	Pathogenic/ likely pathogenic	10 years 11 months	4 years 6 months	obesity, polydactyly, psychomotor delay
P2	Female	MKKS	Homozygous	NM_018848.3 (MKKS):c.1436C>G(p.(Ser479*))	Pathogenic	5 years 3 months	8 months	obesity, polydactyly, abnormal image of kidneys on ultrasound
P3	Male	MKKS	Homozygous	NM_018848.3(MKKS):c.1436C>G(p.(Ser479*))	Pathogenic	3 years 4 months	2 months	abnormal image of kidneys on ultrasound, CKD, polydactyly siblings with BBS
P4	Male	BBS10	Heterozygous	NM_024685.4 (BBS10):c.424G>A (p.Asp142Asn)	Benign/ Likely benign	13 years 8 months	6 years	obesity, polydactyly, psychomotor delay, ASD
		BBS7	Homozygous	NM_176824.3 (BBS7):c.1967_1968delinsC (p.Leu656Profs*18)	Pathogenic
P5	Male	BBS10	Heterozygous	NM_024685.4 (BBS10):c.424G>A (p.Asp142Asn)	Benign/ likely benign	2 years 11 months	2 months	abnormal image of kidneys on ultrasound, polydactyly, siblings with BBS
		BBS7	Homozygous	NM_176824.3 (BBS7):c.1967_1968delinsC (p.Leu656Profs*18)	Pathogenic
P6	Male	BBS7	Compound heterozygous	NM_176824.3 (BBS7): c.1967_1968delinsC(p.(Leu656Profs*18))	Pathogenic	4 years 7 months	9 months	abnormal image of kidneys on ultrasound, CKD, polydactyly,
P7	Male	BBS7	Compound heterozygous	NM_176824.3 (BBS7): c.754G>T(p.(Asp252Tyr))	no data given	7 years 2 months	1 month	abnormal image of kidneys on ultrasound
		BBS7	Compound heterozygous	NM_176824.3 (BBS7): c.1967T>C(p.(Leu656Pro))	no data given
		BBS7	Compound heterozygous	NM_176824.3 (BBS7): c.280A>C(p.(Thr94Pro))	no data given
P8	Female	BBS9	Homozygous	NM_001033604.2 (BBS9):c.1687C>T	Pathogenic	4 years	2 years 6 months	abnormal image of kidneys on ultrasound, polydactyly

(CKD, chronic kidney disease; ASD, autism spectrum disorder).