Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017653.6:c.946+1G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 223800.3 | Egypt | Postnatal growth retardation; Microcephaly; Abnormal facial shape; Abnormal thorax morphology; Scoliosis; Rhizomelia; Intellectual disability; Platyspondyly; Epiphyseal dysplasia; Metaphyseal dysplasia; Iliac crest serration | Unknown | No | Patient from Family 9 in the publication. The same patient was described in a previous locus homozygosity mapping study. | |
| 223800.6 | Egypt | Global developmental delay; Short stature; Scoliosis | Male | Yes | ||
| 223800.7 | Egypt | Seizure ; Short stature; Brachydactyly; Camptodactyly; Hyperlordosis; Platyspondyly | Female | Yes | Yes | |
| 223800.11 | Egypt | Skeletal dysplasia | Male | Patient's parents are from the same region. | ||
| 223800.12 | Egypt | Intellectual disability; Abnormality of the vertebral column; Microcephaly | Male | Yes | Yes |