Unknown
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_058172.5:c.1074delT | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
228600.1.1 | Egypt | Neonatal respiratory distress | Unknown | Yes | Yes | Sibling of 228600.1.2 & 228600.1.3 |
228600.1.3 | Egypt | Multiple joint contractures; Diarrhea | Unknown | Yes | Yes | Sibling of 228600.1.1 & 228600.1.2 |