| 223800.3 | Saudi Arabia | 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 | Saudi Arabia | Global developmental delay; Short stature; Scoliosis | Male | | Yes | |
| 223800.7 | Saudi Arabia | Seizure ; Short stature; Brachydactyly; Camptodactyly; Hyperlordosis; Platyspondyly | Female | Yes | Yes | |
| 223800.10 | Saudi Arabia | Intellectual disability; Short stature; Short neck; Pectus excavatum; Intercostal retractions | | Yes | Yes | |
| 223800.12 | Saudi Arabia | Intellectual disability; Abnormality of the vertebral column; Microcephaly | Male | Yes | Yes | |
