Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_183059.2:c.112C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
610612.3.1 | Lebanon | Congenital nystagmus; Macular atrophy; Reduced visual acuity; Abnormal pupillary function; Hypermetropia; Retinal pigment epithelial mottling | Female | Yes | Yes | Proband. The patient exhibited digito-ocular signs of Franceschetti |
610612.3.2 | Lebanon | Reduced visual acuity; Hypermetropia | Female | Yes | Yes | Sister 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. |