222700.3.1

Tunisia

Abnormal macrophage count; Abnormal lymphocyte count; Vomiting; Diarrhea; Growth delay; Hyperammonemia

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003982.4:c.1185_1188del	2		Lysinuric Protein Intolerance

Proband and sibling of 222700.3.2

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
222700.3.2	Tunisia		Unknown	Yes	Yes	Lysinuric protein intolerance was prenatally diagnosed in this subject