Female
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 |
---|---|---|---|---|---|---|
610612.2.2 | Morocco | Congenital nystagmus; Reduced visual acuity; Abnormal pupillary function; Hypermetropia; Visual acuity light perception without projection; Keratoconus | Female | Yes | Yes | Sister of patient 610612.2.1 |
610612.2.3 | Morocco | Female | No | Mother of patient 610612.2.1 | ||
610612.2.4 | Morocco | Male | No | Father of patient 610612.2.1 |