605231.1

Tunisia

Retinal dystrophy; Abnormality of the kidney; Obesity; Abnormal digit morphology

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Unknown

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease
NM_018848.3:c.1436C>G	2	NA	Bardet-Biedl syndrome 6
NM_018848.3:c.1549C>T	2	NA	Bardet-Biedl syndrome 6
NM_018848.3:c.1595G>T	2	NA	Bardet-Biedl syndrome 6

Patient from family '57005' in the publication