Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_017825.3:c.1000C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
618170.1.2 | United Arab Emirates | Delayed speech and language development; Seizure; Death in childhood | Female | Yes | Yes | Sister of 618170.1.1 |
618170.1.3 | United Arab Emirates | Neurological speech impairment; Motor regression; Seizure; Global developmental delay; Unsteady gait ; Death in childhood | Male | Yes | Yes | Brother of 618170.1.1 |
618170.1.4 | United Arab Emirates | Neurological speech impairment; Motor regression; Seizure; Global developmental delay; Unsteady gait; Hypotonia; Recurrent respiratory infections; Death in childhood | Male | Yes | Yes | Brother of 618170.1.1 |
618170.1.5 | United Arab Emirates | Delayed speech and language development; Motor regression; Seizure; Global developmental delay; Unsteady gait | Male | Yes | Yes | Brother of 618170.1.1 |
618170.1.6 | United Arab Emirates | Motor regression; Seizure; Death in childhood | Female | Yes | Yes | Cousin of 618170.1.1 |
618170.1.7 | United Arab Emirates | Seizure; Death in childhood | Female | Yes | Yes | Cousin of 618170.1.1 |
618170.1.8 | United Arab Emirates | Neurological speech impairment; Motor regression; Seizure; Global developmental delay; EEG with generalized epileptiform discharges; Cerebellar atrophy; Axonal loss; Unsteady gait; Type 2 muscle fiber atrophy; Recurrent respiratory infections; Cardiac arrest; Death in childhood | Male | Yes | Yes | Cousin of 618170.1.1 |
618170.1.9 | United Arab Emirates | Neurological speech impairment; Motor regression; Seizure; Global developmental delay; EEG with generalized epileptiform discharges; Cerebellar atrophy; Unsteady gait; Sensorineural hearing impairment; Kyphoscoliosis ; Cardiac arrest | Female | Yes | Yes | Cousin of 618170.1.1 |