Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_173654.3:c.1074del | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615297.3.2 | Saudi Arabia | Brachydactyly; Umbilical hernia; Delayed speech and language development; Delayed fine motor development | Male | Yes | Yes | Relative of 615297.3.1 |