Female
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_002972.4:c.2570-1G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615284.1 | Saudi Arabia | Microcephaly; Unsteady gait; Global developmental delay; Abnormal facial shape; Joint laxity; Dysarthria; Decreased compound muscle action potential amplitude; Decreased sensory nerve conduction velocity | Female | Yes | Yes | Has a similarly affected male sibling. Both showed fork and bracket sign on brain MRI |