Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_015311.3:c.682insTT | 2 | |||
NM_015311.3:c.690delC | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
612921.2.2 | Jordan | Intrauterine growth retardation; Short stature; Abnormal facial shape; Macrocephaly; Clinodactyly | Male | Yes | Yes | Sibling of 612921.2.1 |
612921.2.3 | Jordan | Intrauterine growth retardation; Short stature; Abnormal facial shape; Macrocephaly; Clinodactyly | Male | Yes | Yes | Sibling of 612921.2.1 |
612921.2.4 | Jordan | Male | Father of 612921.2.1 | |||
612921.2.5 | Jordan | Female | Moher of 612921.2.1 |