Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004369.4:c.7094del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 254090.3 | Saudi Arabia | Microcephaly; Intellectual disability; Motor delay; Hypotonia; Abnormal facial shape | Female | |||
| 254090.4 | Saudi Arabia | Failure to thrive; Macrocephaly; Hydrocephalus; Hypotonia; Rocker bottom foot | Female | Yes | Yes | 2 siblings died of hypotonia |