Male
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001085427.2:c.827C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
250100.4.1 | Lebanon | Clumsiness; Spastic gait; Motor delay; Delayed speech and language development; Cerebral dysmyelination | Male | No | Yes |