Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001127671.2:c.653dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601559.8 | United Arab Emirates | Camptodactyly; Bowing of the legs; Premature loss of teeth; Short stature; Fever; Hypothermia; Hyperhidrosis; Impaired pain sensation | Male | No | ||
| 601559.10 | United Arab Emirates | Arthrogryposis multiplex congenita; Scoliosis; Feeding difficulties; Keratitis; Global developmental delay | Female | Yes |