Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198535.2:c.436_439del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619488.1 | United Arab Emirates | Global developmental delay; Hypotonia; Hearing impairment; Gastroesophageal reflux; Feeding difficulties; Intellectual disability | Male | Yes | Yes | Affected siblings |
| 619488.2 | United Arab Emirates | Abnormal heart morphology; Intestinal malrotation; Global developmental delay; Hypotonia; Failure to thrive; Hypospadias; Cerebellar vermis hypoplasia | Male | No | Yes |