615981.5

Country

Saudi Arabia

HPO Terms

Obesity; Specific learning disability; Rod-cone dystrophy; Polydactyly; External genital hypoplasia
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_031885.5:c.1207C>T2

Remarks

"BBS-F024-A" in the publication
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