612925.1.1

Saudi Arabia

Unilateral renal agenesis; Seizure; Hypertension; Renal insufficiency; Anemia; Thrombocytopenia; Hemolytic-uremic syndrome

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000064.4:c.3343G>A	2		Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5

Patient had a paternal first cousin with atypical hemolytic uremic syndrome