Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005857.5:c.627+1G>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
275210.1.2 | United Arab Emirates | Death in infancy; Wide anterior fontanel; Thin skin; Fragile skin; Flexion contracture; Narrow mouth; Cryptorchidism | Male | Yes | Yes | Fourth cousin of 275210.1.1 |