Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_018451.4:c.125_126del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
608393.1.1 | Saudi Arabia | Overlapping toe; Hyperreflexia; Hypertonia | Female | Yes | Yes | |
608393.1.3 | Saudi Arabia | Overlapping toe; Hyperreflexia; Hypertonia | Male | Yes | Yes | Sibling of 608393.1.1 |