Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018136.5:c.1959_1962del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608716.4 | Saudi Arabia | Microcephaly; Hyperactivity; Agenesis of corpus callosum; Dilation of lateral ventricles; Simplified gyral pattern | Female | No | ||
| 608716.5 | Saudi Arabia | Microcephaly; Abnormal pyramidal sign; Hyperactivity; Agenesis of corpus callosum; Dilation of lateral ventricles; Simplified gyral pattern | Male | No | ||
| 608716.7 | Saudi Arabia | Microcephaly; Intellectual disability; Short stature; Failure to thrive | Female | Yes | No | Sibling with learning difficulty |
| 608716.9 | Saudi Arabia | Partial agenesis of the corpus callosum; Cerebellar hypoplasia; Colpocephaly; Small anterior fontanelle; Proptosis; Depressed nasal bridge ; Low-set ears; Micrognathia; Subdural hemorrhage | Female | No | Yes | |
| 608716.12 | Saudi Arabia | Lissencephaly; Abnormality of neuronal migration; Hyperactivity; Ventricular septal defect; Sloping forehead | Female | No | Yes | |
| 608716.15 | Saudi Arabia | Pachygyria; Abnormality of neuronal migration; Protruding ear; Bulbous nose; Thin upper lip vermilion ; Thick lower lip vermilion ; Hyperreflexia ; Cafe-au-lait spot; Seizure | Female | No | Yes | |
| 608716.16 | Saudi Arabia | Lissencephaly; Agenesis of corpus callosum; Colpocephaly; Sloping forehead; Delayed gross motor development; Lower limb hypertonia | Male | No | Yes | |
| 608716.17 | Saudi Arabia | Pachygyria; Abnormality of neuronal migration; Agenesis of corpus callosum; Intellectual disability; Delayed speech and language development | Male | No | Yes | |
| 608716.18 | Saudi Arabia | Microcephaly; Intrauterine growth retardation; Global developmental delay; Abnormal facial shape | Male | No | Yes |