| 218340.5 | Saudi Arabia | Global developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; Seizure | Unknown | | Yes | |
| 218340.6 | Saudi Arabia | Global developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; Microcornea ; Hyperopic astigmatism ; Abnormal retinal morphology | Unknown | | Yes | |
| 218340.7 | Saudi Arabia | Global developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; Abnormal facial shape | Unknown | | Yes | |
| 218340.8 | Saudi Arabia | Global developmental delay ; Generalized hypotonia; Absent speech; Delayed speech and language development ; Spasticity ; Delayed gross motor development; Abnormal facial shape | Unknown | | Yes | |
| 218340.9 | Saudi Arabia | Global developmental delay ; Seizure ; Autistic behavior; Generalized hypotonia; Delayed speech and language development ; Spasticity ; Delayed gross motor development; Abnormal facial shape ; Ventriculomegaly | Unknown | | Yes | |
| 218340.10 | Saudi Arabia | Global developmental delay ; Seizure ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shape | Unknown | | Yes | |
| 218340.11 | Saudi Arabia | Global developmental delay ; Seizure ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shape | Unknown | | Yes | |
| 218340.12 | Saudi Arabia | Global developmental delay ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shape | Unknown | | Yes | |
| 218340.16 | Saudi Arabia | Microcephaly; Delayed gross motor development; Delayed fine motor development; Delayed speech and language development; Intellectual disability; Hypotonia | Male | Yes | | |
| 218340.17 | Saudi Arabia | Hypotonia; Autism; Seizure | Female | No | | |
| 218340.18 | Saudi Arabia | Intellectual disability, severe | Male | | Yes | |
| 218340.19 | Saudi Arabia | Atrial septal defect; Ventricular septal defect; Coloboma; Seizure | Male | | | |
| 218340.21 | Saudi Arabia | Abnormal facial shape; Global developmental delay; Intellectual disability | Male | Yes | Yes | Affected cousin |
| 218340.22 | Saudi Arabia | Intellectual disability; Delayed speech and language development | Female | Yes | Yes | Patient has two affected siblings |
| 218340.23 | Saudi Arabia | Global developmental delay; Seizure; Autism | Female | | | |
| 218340.24 | Saudi Arabia | Autism; Hypotonia; Neurodevelopmental delay | Male | No | No | |
| 218340.25 | Saudi Arabia | Severe global developmental delay; Seizure; Developmental regression; Macrocephaly | Male | Yes | Yes | Patient has a similarly affected younger brother |
| 218340.26 | Saudi Arabia | Intellectual disability; Delayed speech and language development; Motor delay; Abnormal facial shape; Hydronephrosis; Abnormal corpus callosum morphology | Female | Yes | Yes | |
| 218340.27 | Saudi Arabia | Global developmental delay; Visual loss | Male | | Yes | |
