Male
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_030973.4:c.518T>C | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616449.1.2 | Lebanon | Psychomotor retardation; Hypotonia; Global developmental delay; Wide anterior fontanel; High forehead; Sparse scalp hair; Sparse eyebrow; Hypertelorism; Nevus flammeus; Short philtrum; Depressed nasal bridge; Broad nasal tip; Exaggerated cupid's bow | Female | Yes | No | Sister of proband |