615987.1.12

Country

Lebanon

HPO Terms

Rod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment;
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024685.4:c.931T>G2

Remarks

Sister of 615987.1.11, Relative of 615987.1.01

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615987.1.01LebanonRod-cone dystrophy; Hand polydactyly; Foot polydactylyMaleYesNoHe belongs to the same large consanguineous family as 615981.1.1
615987.1.02LebanonDeceasedMaleYesYesRelative of 615987.1.01
615987.1.03LebanonRod-cone dystrophy; Cognitive impairment; Skin appendage neoplasmFemaleYesYesSister of 615987.1.02, Relative of 615987.1.01
615987.1.04LebanonRod-cone dystrophy; Hand polydactyly; Foot polydactyly; Cognitive impairment; Renal involvement;FemaleYesYesSister of 615987.1.02, Relative of 615987.1.01
615987.1.05LebanonDeceasedFemaleYesYesSister of 615987.1.02, Relative of 615987.1.01
615987.1.06LebanonRod-cone dystrophy; Foot polydactyly; Cognitive impairment;FemaleYesYesRelative of 615987.1.01
615987.1.07LebanonRod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment;MaleYesYesBrother of 615987.1.06, Relative of 615987.1.01
615987.1.08LebanonDeceasedMaleYesNoRelative of 615987.1.01
615987.1.09LebanonTruncal obesity; Intellectual disability; Retinal degeneration; Polydactyly; Hypoplastic male external genitaliaMaleYesNoBrother of 615987.1.08, Relative of 615987.1.01
615987.1.10LebanonTruncal obesity; Retinal degeneration; Polydactyly; Intellectual disability; Hypoplastic male external genitaliaMaleYesNoBrother of 615987.1.08, Relative of 615987.1.01
615987.1.11LebanonRod-cone dystrophy; Increased body mass index; Hand polydactyly; Foot polydactyly; Cognitive impairment;FemaleYesYesRelative of 615987.1.01
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