Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138425.4:c.43C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 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 | |
| 218340.26 | 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 | ||
| 218340.28 | Saudi Arabia | Failure to thrive; Intellectual disability; Agenesis of corpus callosum; Seizure | Male |