Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_006031.5:c.5767C>T | 1 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
210720.2.1 | Oman | Global developmental delay; Failure to thrive | Male | Yes | Patient 'P3' in the publication | |
210720.2.3 | Oman | Female | Yes | Mother of 210720.2.1 |