Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_139278.4:c.422T>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 620007.5.1 | Iraq | Global developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology; Hyporeflexia; Facial myokymia; Narrow mouth | Male | Yes | Yes | Index patient from 'family 6' in the publication |
| 620007.5.3 | Iraq | Global developmental delay; Abnormality of limb bone morphology; Hyporeflexia; Facial myokymia; Narrow mouth; Intellectual disability, moderate | Male | Yes | Yes | Brother of 620007.5.1 |
| 620007.5.G | Iraq | Relatives of 620007.5.1 (parents + three brothers). |