209850.2.2

Country

Saudi Arabia

HPO Terms

Autism; Autistic behavior; Intellectual disability; Seizure; Abnormal facial shape
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_000481.4:c.922A>T 2

Remarks

Sibling of 209850.2.1

References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
209850.2.1 Saudi Arabia Autism; Autistic behavior; Intellectual disability; Seizure; Abnormal facial shape Male Yes Yes
209850.2.3 Saudi Arabia Female Yes Yes Mother of 209850.2.1
209850.2.4 Saudi Arabia Male Yes Yes Father of 209850.2.1
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