Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_006031.6:c.4976_4980del | 1 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
210720.5.1 | Lebanon | Global developmental delay; Failure to thrive | Female | Yes | Patient 'P17' in the publication | |
210720.5.3 | Lebanon | Female | Yes | Mother of 210720.5.1 |