Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001127671.2:c.1121+1G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601559.8 | Palestine | Camptodactyly; Bowing of the legs; Premature loss of teeth; Short stature; Fever; Hypothermia; Hyperhidrosis; Impaired pain sensation | Male | No | ||
| 601559.9 | Palestine | Abnormal facial shape; Abnormal skeletal morphology; Global developmental delay; Abnormality of the liver; Fever | Male | No | Yes |