Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000153.4:c.1630G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
245200.2 | Palestine | Seizure; Hyperacusis; Optic atrophy; Abnormal muscle tone; Spasticity; Areflexia | Yes | Yes | Patient belongs to a large Druze pedigree with multiple affected members |