Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_024911.7:c.1175A>G | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
619648.1.1 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | Female | Yes | Patient from 'family 1' in the publication | |
619648.1.2 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | Female | Yes | Sister of 619648.1.1 | |
619648.1.3 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | Female | Yes | Sister of 619648.1.1 | |
619648.1.5 | United Arab Emirates | Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | Male | Yes | Brother of 619648.1.1 | |
619648.1.6 | United Arab Emirates | Male | Father of 619648.1.1 | |||
619648.1.7 | United Arab Emirates | Female | Mother of 619648.1.1 |