Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001310338.2:c.456G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615084.1.1 | Lebanon | Progressive external ophthalmoplegia; Skeletal muscle atrophy; Respiratory distress ; | Male | Yes | ||
615084.1.2 | Lebanon | Progressive external ophthalmoplegia; Skeletal muscle atrophy; Respiratory distress ; | Female | Yes | Sibling of 615084.1.1 | |
615084.1.4 | Lebanon | ; | Male | Father of 615084.1.1 | ||
615084.1.5 | Lebanon | ; | Female | Mother of 615084.1.1 |