615985.1.5

Country

Arab
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Sex

Male

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_198309.3:c.459G>A1

Remarks

Father of patient 615985.1.1.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615985.1.1ArabRod-cone dystrophy; Hand polydactyly; Foot polydactyly; Cognitive impairment; MicropenisMaleYesYesNorth African. Proband. Patient exhibited an additional heterozygous mutation in the BBS7 gene.
615985.1.2ArabRod-cone dystrophy; Hand polydactyly; Foot polydactyly; Hydrometrocolpos; Renal insufficiencyFemaleYesYesSister of patient 615985.1.1. She exhibited features similar to McKusick–Kauffmann syndrome.
615985.1.3ArabRod-cone dystrophy; Hand polydactyly; Foot polydactyly; Renal dysplasiaFemaleYesYesSister of patient 615985.1.1.
615985.1.4ArabFemaleNoMother of patient 615985.1.1.
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