610612.3.1

Lebanon

Congenital nystagmus; Macular atrophy; Reduced visual acuity; Abnormal pupillary function; Hypermetropia; Retinal pigment epithelial mottling

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_183059.2:c.112C>T	2		Leber Congenital Amaurosis 12

Proband. The patient exhibited digito-ocular signs of Franceschetti

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610612.3.2	Lebanon	Reduced visual acuity; Hypermetropia	Female	Yes	Yes	Sister of patient 610612.3.1.
610612.3.3	Lebanon	Reduced visual acuity; Hypermetropia	Male	Yes	Yes	Brother of patient 610612.3.1.
610612.3.4	Lebanon		Male	No		Father of patient 610612.3.1.
610612.3.5	Lebanon		Female	No		Mother of patient 610612.3.1.