Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_021939.4:c.831dup | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 259450.2 | Saudi Arabia | Kyphosis; Spinal cord compression; Recurrent fractures; Brachycephaly; Kyphoscoliosis | Female | Yes | ||
| 259450.3 | Saudi Arabia | Arthrogryposis multiplex congenita; Global developmental delay; Generalized hypotonia; Macrocephaly; Metopic synostosis; Ventricular septal defect; Hearing impairment; Abnormal facial shape | Male | No | Yes |