610612.3.3

Country

Lebanon

HPO Terms

Reduced visual acuity; Hypermetropia
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_183059.2:c.112C>T2

Remarks

Brother of patient 610612.3.1.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
610612.3.1LebanonCongenital nystagmus; Macular atrophy; Reduced visual acuity; Abnormal pupillary function; Hypermetropia; Retinal pigment epithelial mottlingFemaleYesYesProband. The patient exhibited digito-ocular signs of Franceschetti
610612.3.2LebanonReduced visual acuity; HypermetropiaFemaleYesYesSister of patient 610612.3.1.
610612.3.4LebanonMaleNoFather of patient 610612.3.1.
610612.3.5LebanonFemaleNoMother of patient 610612.3.1.
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