237300.1.1

Lebanon

Hyperammonemia; Encephalopathy; Respiratory alkalosis; Dehydration; Increased intracranial pressure; Death in childhood ;

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001875.4:c.3558+1G>C	1		Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia due to
NM_001875.4:c.4101+2T>C	1		Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia due to

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
237300.1.2	Lebanon	Hyperammonemia; Confusion; Adult onset;	Male	Yes		Grandfather of 237300.1.1
237300.1.3	Lebanon		Female		Yes	Mother of 237300.1.1; Daughter of 237300.1.2
237300.1.4	Lebanon		Male			Father of 237300.1.1