Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000033.3:c.947A>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
300100.1.1 | Tunisia | Gait disturbance; Reduced visual acuity; Mental deterioration; Generalized weakness of limb muscles; Motor axonal neuropathy; | Male | Yes | No | Sibling of 300100.1.2, 300100.1.3, and 300100.1.4 |
300100.1.2 | Tunisia | Reduced visual acuity; Multifocal seizures; Mental deterioration; Progressive language deterioration; Spasticity; Leukodystrophy; ; | Male | Yes | No | Sibling of 300100.1.1, 300100.1.3, and 300100.1.4 |
300100.1.3 | Tunisia | ; ; | Female | Yes | No | Sibling of 300100.1.1, 300100.1.2, and 300100.1.4 |
300100.1.4 | Tunisia | ; ; | Female | Yes | No | Sibling of 300100.1.1, 300100.1.2, and 300100.1.3 |