Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_022166.3:c.2169dup | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615777.1 | United Arab Emirates | Short long bone; Monkey wrench femoral neck; Flat face; Depressed nasal bridge; Long philtrum; Smooth philtrum; Distal joint laxity; Hyperlordosis | Male | Yes | Yes | Patient had a stillborn sibling with a similar phenotype |
615777.1.2 | United Arab Emirates | Male | Father of 615777.1.1 |