Unknown
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000082.3:c.275+1G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
216400.4.2 | Sudan | Failure to thrive; Bird-like facies; Intellectual disability, moderate; Microcephaly; Cutaneous photosensitivity ; | Unknown | Yes | Yes | Cousin of 216400.4.1 |