Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004456.5:c.44G>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277590.1 | United Arab Emirates | Axial hypotonia; Limb hypertonia; Small anterior fontanelle; Microretrognathia | Male | No | De novo mutation |