Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001673.4:c.146G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615574.1 | United Arab Emirates | Primary microcephaly ; Severe global developmental delay; Cerebral visual impairment; Seizure | Male | No | Yes | |
| 615574.2 | United Arab Emirates | Global developmental delay; Seizure | Male | Yes | Yes | Affected cousin |
| 615574.5 | United Arab Emirates | Lissencephaly; Abnormal lateral ventricle morphology; Abnormality of neuronal migration; Sparse eyebrow; Hypertelorism; Bilateral microphthalmos ; Broad nasal tip; Spasticity | Male | No | Yes | |
| 615574.6 | United Arab Emirates | Cerebral atrophy; Cerebellar atrophy; Cerebral white matter atrophy; Hypertelorism; Strabismus; Depressed nasal bridge | Female | Yes | Yes | |
| 615574.7 | United Arab Emirates | Brain atrophy; Abnormality of neuronal migration; Frontal cortical atrophy; Lissencephaly; Low-set ears; Retrognathia | Male | Yes | Yes | |
| 615574.9 | United Arab Emirates | Cerebral atrophy; Lissencephaly; Sloping forehead; Micrognathia; Exaggerated startle response; Hypertonia ; Hyperreflexia; Distal arthrogryposis | Male | Yes | Yes | |
| 615574.10 | United Arab Emirates | Dysplastic corpus callosum; Brain atrophy; Intrauterine growth retardation | Female | Yes | Yes | |
| 615574.11 | United Arab Emirates | Lissencephaly; Cerebellar hypoplasia; Hypoplasia of the brainstem; Abnormality of neuronal migration; Epileptic encephalopathy | Female | Yes | Yes | |
| 615574.12 | United Arab Emirates | Brain atrophy; Narrow forehead; Small hand; Short foot; Strabismus; Hypotonia; Exaggerated startle response | Female | No | Yes |