Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005522.5:c.175dup | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
601536.2.2 | Saudi Arabia | Hearing impairment; Motor delay; Autistic behavior; Chronic constipation; Sleep disturbance; Horizontal pendular nystagmus | Female | Yes | Yes | Sister of 601536.2.1 |
601536.2.G | Saudi Arabia | Relatives of 601536.2.1 (parents + 2 brothers). |