207900.7.1

Saudi Arabia

Attention deficit hyperactivity disorder; Delayed speech and language development; Hepatomegaly

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000048.4:c.1060C>T	2	NA	Argininosuccinic Aciduria

'Patient 1' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
207900.7.2	Saudi Arabia	Attention deficit hyperactivity disorder; Delayed speech and language development; Hepatomegaly	Female	Yes	Yes	Patient 2' in the publication, sister of 207900.7.1