Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_015213.4:c.517_518del | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
617281.1.1 | Saudi Arabia | Seizure; Facial tics; Involuntary movements; Global developmental delay; Spastic tetraplegia; Absent speech; Microcephaly; Dandy-Walker malformation; Aplasia/Hypoplasia of the cerebellar vermis; Hydrocephalus; Basal ganglia calcification | Female | Yes | Yes | Patient from 'family 1' in the publication |