Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_173791.5:c.2197_2200del | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
614235.1.4 | Oman | Autistic behavior | Male | Yes | Yes | Sibling of 614235.1.1 |
614235.1.6 | Oman | Myopathy; Decreased facial expression | Female | Yes | Mother of 614235.1.1 |