Male
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001673.5:c.1193A>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615574.1 | Saudi Arabia | Primary microcephaly ; Severe global developmental delay; Cerebral visual impairment; Seizure | Male | No | Yes | |
615574.2 | Saudi Arabia | Global developmental delay; Seizure | Male | Yes | Yes | Affected cousin |
615574.3 | Saudi Arabia | Global developmental delay; Microcephaly; Seizure | Female | No | Yes | |
615574.6 | Saudi Arabia | Cerebral atrophy; Cerebellar atrophy; Cerebral white matter atrophy; Hypertelorism; Strabismus; Depressed nasal bridge | Female | Yes | Yes | |
615574.7 | Saudi Arabia | Brain atrophy; Abnormality of neuronal migration; Frontal cortical atrophy; Lissencephaly; Low-set ears; Retrognathia | Male | Yes | Yes | |
615574.9 | Saudi Arabia | Cerebral atrophy; Lissencephaly; Sloping forehead; Micrognathia; Exaggerated startle response; Hypertonia ; Hyperreflexia; Distal arthrogryposis | Male | Yes | Yes | |
615574.10 | Saudi Arabia | Dysplastic corpus callosum; Brain atrophy; Intrauterine growth retardation | Female | Yes | Yes | |
615574.11 | Saudi Arabia | Lissencephaly; Cerebellar hypoplasia; Hypoplasia of the brainstem; Abnormality of neuronal migration; Epileptic encephalopathy | Female | Yes | Yes | |
615574.12 | Saudi Arabia | Brain atrophy; Narrow forehead; Small hand; Short foot; Strabismus; Hypotonia; Exaggerated startle response | Female | No | Yes |