Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004625.4:c.610G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
276820.3 | Saudi Arabia | Aplasia/hypoplasia of the extremities; Bulbous nose; Low-set ears; Cryptorchidism; Anteriorly displaced genitalia | Male | No | Yes |