| 312750.15 | Saudi Arabia | Global developmental delay; Intellectual disability; Hypotonia; Strabismus; Pulmonic stenosis; Hirsutism; Obesity; Seizure | Female | No | Yes | |
| 312750.16 | Saudi Arabia | Global developmental delay; Hypotonia; Lower limb spasticity | Female | No | Yes | Subject had a deletion encompassing partially exon 4 and 3' UTR |
| 312750.17 | Saudi Arabia | Microcephaly; Delayed fine motor development; Delayed speech and language development; Specific learning disability; Highly arched eyebrow; Hypotonia; Seizure; Syndactyly | Male | | | |
| 312750.18 | Saudi Arabia | Failure to thrive; Motor delay; Intellectual disability; Delayed speech and language development; Optic atrophy; Cortical dysplasia; Cerebral atrophy; Hypotonia; Seizure | Female | | Yes | |
| 312750.19 | Saudi Arabia | Developmental regression; Seizure; Stereotypical body rocking | Female | | Yes | de novo mutation |
| 312750.20 | Saudi Arabia | Microcephaly; Motor delay; Delayed speech and language development; Intellectual disability; Specific learning disability; Hypotonia; Seizure | Unknown | | | |
| 312750.21 | Saudi Arabia | Motor delay; Delayed speech and language development; Intellectual disability; Seizure | Female | | Yes | de novo mutation |
| 312750.22 | Saudi Arabia | Autism; Intellectual disability; Developmental regression; Delayed speech and language development; Specific learning disability; Seizure | Female | | | |
