Male
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_147127.5:c.981delG | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
225500.5.1 | Egypt | Short upper lip; Short lingual frenulum; Abnormality of the alveolar ridges; Natal tooth; Short nose; Long philtrum; Hand polydactyly; Mesomelia; Narrow chest; Aplasia/Hypoplasia of the nails; Short ribs; Short iliac bones; Atrioventricular canal defect | Female | Yes | No | |
225500.5.3 | Egypt | Female | No | No | Mother of 225500.5.1 |