Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001205254.1:c.1037+1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 251290.1 | United Arab Emirates | Microcephaly; Seizure; Global developmental delay; Hypotonia; Failure to thrive; Abnormal facial shape; Feeding difficulties; Abnormality of skin pigmentation | Female | No | Yes |