231670.6.1

Iraq

Seizure; Coma; Hypotonia; Muscle weakness; Delayed speech and language development

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000159.4:c.301G>A	2		Glutaric Acidemia I

Patient belongs to a family of Iraqi-Jewish origin

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
231670.6.2	Iraq	Apraxia; Specific learning disability	Male	Yes	Yes	Brother of 231670.6.1
231670.6.3	Iraq		Male	Yes		Father of 231670.6.1
231670.6.4	Iraq		Female	Yes		Mother of 231670.6.1