614379.3

Country

Saudi Arabia

HPO Terms

Abnormal facial shape; Narrow palpebral fissure; Polydactyly; Syndactyly; Global developmental delay
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_025132.4:c.1434C>G2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614379.1Saudi ArabiaJuvenile rheumatoid arthritis; Arthropathy; Decreased serum complement C4FemaleYesHomozygous for an exon 26 deletion and an exon
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