Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_017990.5:c.1360G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
213300.3.2 | Saudi Arabia | Molar tooth sign on MRI; Thin corpus callosum; Postaxial polydactyly; Hyperechogenic kidneys; Global developmental delay | Male | Yes | Yes | Brother of 213300.3.1 |