609049.1

Saudi Arabia

Microphthalmia; Microcornea; Nephrotic syndrome; Renal dysplasia; Abnormal facial shape; Bilateral talipes equinovarus; Pulmonary hypoplasia

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002292.4:c.4276dup	2		Pierson Syndrome

Parents are distantly related and from the same tribe