Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000208.4:c.421C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
262190.1.1 | United Arab Emirates | Short stature; Coarse facial features; Global developmental delay; Nephrocalcinosis; Insulin-resistant diabetes mellitus; Acanthosis nigricans; Hyperkeratosis | Male | Yes | ||
262190.1.2 | United Arab Emirates | Male | Father of 262190.1.1 |