Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004214.5:c.175_176insTAA | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
617107.1.2 | United Arab Emirates | Tall stature; Global developmental delay; Intellectual disability; Neutropenia; Hypertelorism; Epicanthus; Midface retrusion; Thick vermilion border; Metatarsus adductus; Talipes equinovarus | Male | Yes | Yes | Brother of 617107.1.1 |
617107.1.3 | United Arab Emirates | Global developmental delay; Intellectual disability; Hypertelorism; Epicanthus; Midface retrusion; Thick vermilion border; Enlarged kidney; Cystic renal dysplasia | Male | Yes | Yes | Sister of 617107.1.1 |