Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_002241.5:c.179T>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
612780.1.1 | Arab | Focal-onset seizure; Global developmental delay; Delayed speech and language development; Intellectual disability; Nystagmus; Dysarthria; Brisk reflexes; Babinski sign; Limb ataxia; Gait ataxia; Dysdiadochokinesis | Female | Yes | Yes | Proband |
612780.1.3 | Arab | Bilateral tonic-clonic seizure; Ataxia; Dysarthria; Dysdiadochokinesis; Dysmetria; Brisk reflexes; Babinski sign; Cerebellar atrophy | Male | Yes | Yes | Brother of 612780.1.1 |