268100.2.1

Palestine

Retinal dystrophy

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014249.4:c.119-2A>C	2		Enhanced S-Cone Syndrome

The patient had two affected sisters who were not tested for mutations.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
268100.2.2	Palestine		Male	Yes		Unaffected father of 268100.2.1