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 |
616801.3.3 | Saudi Arabia | Intrauterine growth retardation; Hypotonia; Global developmental delay; Failure to thrive; Hydronephrosis | Female | Yes | Yes | Relative of 616801.3.1 |