615983.3

Country

United Arab Emirates

HPO Terms

Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_152384.3:c.158C>T2
NM_024649.5:c.1684G>A1
NM_198428.3:c.1693+102G>A1

Remarks

"BBS-F030-A" in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615983.4United Arab EmiratesRod-cone dystrophyUnknownNo
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