Female
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 |
---|---|---|---|---|---|---|
617133.1.2 | 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 |
617133.1.4 | Lebanon | Irritability; Hypotonia; Feeding difficulties; Respiratory insufficiency; Death in infancy | Male | Yes | Yes | Sibling of 617133.1.3 |