Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_177400.3:c.196del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
617560.3.2 | Saudi Arabia | Global developmental delay; Generalized hyperreflexia; Spastic tetraplegia; Abnormal myelination; Thin corpus callosum; Brain atrophy | Male | Yes | Yes | Brother of 617560.3.1 |