Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001127671.1:c.380dup | 1 | |||
| NM_001127671.1:c.2336G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601559.9 | Lebanon | Abnormal facial shape; Abnormal skeletal morphology; Global developmental delay; Abnormality of the liver; Fever | Male | No | Yes | |
| 601559.10 | Lebanon | Arthrogryposis multiplex congenita; Scoliosis; Feeding difficulties; Keratitis; Global developmental delay | Female | Yes |