209900.1.1

Country

Saudi Arabia

HPO Terms

Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face; Ventricular septal defect; External genital hypoplasia

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_024649.5:c.124+1G>A	2		Bardet-Biedl Syndrome 1
NM_012210.4:c.*229C>T	1

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Remarks

"BBS-F001-A" in the publication

References

Abu-Safieh et al. 2012;
Abu Safieh et al. 2010

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
209900.1.2	Saudi Arabia	Obesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round face; Ventricular septal defect; External genital hypoplasia	Male	Yes	Yes	Sibling of 209900.1.1. "BBS-F001-B" in the publication