209850.2.4

Saudi Arabia

Back to search Result

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000481.4:c.922A>T	1

Father of 209850.2.1

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
209850.2.2	Saudi Arabia	Autism; Autistic behavior; Intellectual disability; Seizure; Abnormal facial shape	Female	Yes	Yes	Sibling of 209850.2.1
209850.2.3	Saudi Arabia		Female	Yes	Yes	Mother of 209850.2.1

Back to search Result