Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032504.1:c.520C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616801.3.1 | Saudi Arabia | Hypotonia; Severe; Neurodevelopmental delay; Generalized myoclonic-tonic-clonic seizure; Failure to thrive; Spastic paraparesis; Death in infancy | Male | Yes | Yes | Two older similarly affected siblings died undiagnosed |
| 616801.3.2 | Saudi Arabia | Hypotonia; Neurodevelopmental delay; Failure to thrive; Microcephaly; Brachycephaly | Female | Yes | Yes | Sibling of 616801.3.1 |
| 616801.3.4 | Saudi Arabia | Intrauterine growth retardation; Microcephaly; Flexion contracture; Global developmental delay; Failure to thrive; Recurrent aspiration pneumonia | Female | Yes | Yes | Sibling of 616801.3.3 |