Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018136.5:c.7782_7783del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608716.4 | United Arab Emirates | Microcephaly; Hyperactivity; Agenesis of corpus callosum; Dilation of lateral ventricles; Simplified gyral pattern | Female | No | ||
| 608716.5 | United Arab Emirates | Microcephaly; Abnormal pyramidal sign; Hyperactivity; Agenesis of corpus callosum; Dilation of lateral ventricles; Simplified gyral pattern | Male | No | ||
| 608716.9 | United Arab Emirates | 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 | United Arab Emirates | Lissencephaly; Abnormality of neuronal migration; Hyperactivity; Ventricular septal defect; Sloping forehead | Female | No | Yes | |
| 608716.13 | United Arab Emirates | Lissencephaly; Abnormality of neuronal migration; Abnormally large globe; Thin eyebrow; Highly arched eyebrow; Protruding tongue ; Thin upper lip vermilion | Male | No | Yes | |
| 608716.15 | United Arab Emirates | 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 | United Arab Emirates | Lissencephaly; Agenesis of corpus callosum; Colpocephaly; Sloping forehead; Delayed gross motor development; Lower limb hypertonia | Male | No | Yes | |
| 608716.17 | United Arab Emirates | Pachygyria; Abnormality of neuronal migration; Agenesis of corpus callosum; Intellectual disability; Delayed speech and language development | Male | No | Yes | |
| 608716.18 | United Arab Emirates | Microcephaly; Intrauterine growth retardation; Global developmental delay; Abnormal facial shape | Male | No | Yes |