Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024818.5:c.31C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617133.1.1 | Lebanon | Irritability; Hypotonia; Feeding difficulties; Respiratory insufficiency; Abnormality of peripheral nerve conduction; Death in infancy | Female | Yes | Yes | Australian family originating from Lebanon |
| 617133.1.2 | Lebanon | Irritability; Hypotonia; Feeding difficulties; Respiratory insufficiency; Death in infancy | Female | Yes | Yes | Sibling of 617133.1.1 |
| 617133.1.3 | Lebanon | Irritability; Hypotonia; Feeding difficulties; Respiratory insufficiency; Death in infancy | Female | Yes | Yes | Cousin of of 617133.1.1 |