615983.1.3

Country

Somalia

HPO Terms

Retinal dystrophy; Polydactyly; Obesity; Cognitive impairment; Abnormality of the kidney
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Sex

Unknown

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_152384.3:c.214G>A2NA

Remarks

Sibling of 615983.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615983.1.1SomaliaRetinal dystrophy; Polydactyly; Obesity; Cognitive impairment; Abnormality of the kidneyUnknownYesNoPatient from Family '1' in the publication
615983.1.2SomaliaRetinal dystrophy; Polydactyly; Obesity; Cognitive impairment; Abnormality of the kidneyUnknownYesNoSibling of 615983.1.1
615983.1.4SomaliaRetinal dystrophy; Polydactyly; Obesity; Cognitive impairment; Abnormality of the kidneyUnknownYesNoSibling of 615983.1.1
615983.1.5SomaliaMaleNoNoUnaffected father of 615983.1.1
615983.1.6SomaliaFemaleNoNoUnaffected mother of 615983.1.1
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