222700.2.1

Tunisia

Small for gestational age; Hyperammonemia; Oroticaciduria; Hyperlysinuria; Elevated sweat chloride

Male

Yes

Yes

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

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
222700.2.2	Tunisia	Hyperammonemia; Elevated sweat chloride	Male	Yes	Yes	Brother of 222700.2.1