Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022726.4:c.575A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614457.2 | Saudi Arabia | Motor delay; Delayed speech and language development; Microcephaly; Spasticity; Seizure; Ichthyosis; Failure to thrive; Joint contracture; Optic atrophy; Global developmental delay; Sparse hair | Male | Yes | Yes |