Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_020408.6:c.203G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615595.1.1 | Lebanon; Syria | Failure to thrive in infancy; Stridor; Respiratory distress; Lactic acidosis; Hypotonia | Male | Yes | Yes | Proband from a Lebanese-Syrian family |