Male
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000138.5:c.6872-1G>A | 1 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
154700.3 | Saudi Arabia | Tall stature; Ectopia lentis; Myopia; Hemangioma; High, narrow palate; Arachnodactyly | Female | No | De novo mutation |