Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004247.4:c.2622dupT | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
610536.1.1 | Lebanon | Intellectual disability; Microcephaly; Microtia; Abnormal earlobe morphology; Cleft palate; Hearing impairment; Esophageal atresia | Female | Yes | No | Germline mosaicism in one of the parents. OMIM classifies this patient under OMIM# 221300. This diagnosis has since been revisited and modified. |