607326.G.1

Country

Saudi Arabia

HPO Terms

Intellectual disability; Microcephaly; Pectus carinatum; Failure to thrive
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017653.6:c.1860+1G>A6NA

Remarks

Three related patients
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