Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_130466.3:c.2252A>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
244450.2 | United Arab Emirates | Atrial septal defect; Failure to thrive; Microcephaly; Delayed speech and language development; Motor delay; Intellectual disability; Hypotonia; Hearing impairment; Syndactyly | Male | No | Yes |