Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001164730.2:c.324+1_324+7delinsAC | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
604320.4.1 | Lebanon | Equinovarus deformity; Progressive distal muscle weakness; Hypotonia; Peripheral axonal neuropathy; Respiratory distress; | Male | No | Yes | |
604320.4.2 | Lebanon | ; | Male | Father of 604320.4.1 |