Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_032856.3:c.703C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
251300.4.2 | Egypt | Intellectual disability; Seizure; Hypotonia; Spasticity; Cerebellar atrophy; Brain atrophy; Abnormal myelination; hypoplasia of the corpus callosum; Dandy-Walker malformation; Aplasia/hypoplasia of the brainstem; Optic atrophy; Abnormal facial shape; Hypopigmentation of the skin | Female | Yes | Sibling of 251300.4.1 | |
251300.4.3 | Egypt | Male | Father of 251300.4.1 | |||
251300.4.4 | Egypt | Female | Mother of 251300.4.1 |