Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004525.3:c.9358_9359del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
222448.1.2 | Qatar | Hypertelorism; Myopia; Hearing impairment; Mild global developmental delay; Heart murmur; Syndactyly | Female | Yes | Yes | Patient 'Pt 2' from kindred 6 in the publication, sister of 'Pt 1' |