Male
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001698.2:c.589C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
250950.2.2 | Morocco | Delayed speech and language development; Organic aciduria; | Male | Yes | No | Brother of 250950.2.1 |