Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_015311.3:c.1119G>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
612921.1.1 | Oman | Intrauterine growth retardation; Short stature; Macrocephaly; Abnormal facial shape; Clinodactyly | Male | Yes | Yes | Emirati family of omani origin. Six affected children |
612921.1.2 | Oman | Intrauterine growth retardation; Short stature; Macrocephaly; Abnormal facial shape; Clinodactyly | Male | Yes | Yes | Sibling of 612921.1.1 |
612921.1.3 | Oman | Intrauterine growth retardation; Short stature; Macrocephaly; Abnormal facial shape; Clinodactyly | Female | Yes | Yes | Sibling of 612921.1.1 |
612921.1.4 | Oman | Male | Father of 612921.1.1 |