Female
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004750.5:c.527+5G>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
272430.1.1 | United Arab Emirates | Abnormal facial shape; Camptodactyly; Poor suck; Dysphagia | Female | No | Yes | |
272430.1.2 | United Arab Emirates | Male | No | Father of 272430.1.1 |