Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001171155.2:c.3G>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
619055.4.1 | Lebanon | Intellectual disability, profound; Microcephaly; Spastic tetraplegia; Short stature; Seizure; Vegetative state | Male | Yes | Yes | |
619055.4.2 | Lebanon | Cerebral atrophy; Seizure; Status epilepticus; Myocardial infarction; Death in infancy | Male | Yes | Yes | Brother of 619055.4.1 |
619055.4.4 | Lebanon | Female | Yes | Unaffected mother of 619055.4.1 |