Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001110792.1:c.722C>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 312750.16 | United Arab Emirates | Global developmental delay; Hypotonia; Lower limb spasticity | Female | No | Yes | Subject had a deletion encompassing partially exon 4 and 3' UTR |
| 312750.17 | United Arab Emirates | Microcephaly; Delayed fine motor development; Delayed speech and language development; Specific learning disability; Highly arched eyebrow; Hypotonia; Seizure; Syndactyly | Male | |||
| 312750.18 | United Arab Emirates | Failure to thrive; Motor delay; Intellectual disability; Delayed speech and language development; Optic atrophy; Cortical dysplasia; Cerebral atrophy; Hypotonia; Seizure | Female | Yes | ||
| 312750.19 | United Arab Emirates | Developmental regression; Seizure; Stereotypical body rocking | Female | Yes | de novo mutation | |
| 312750.20 | United Arab Emirates | Microcephaly; Motor delay; Delayed speech and language development; Intellectual disability; Specific learning disability; Hypotonia; Seizure | Unknown | |||
| 312750.21 | United Arab Emirates | Motor delay; Delayed speech and language development; Intellectual disability; Seizure | Female | Yes | de novo mutation | |
| 312750.22 | United Arab Emirates | Autism; Intellectual disability; Developmental regression; Delayed speech and language development; Specific learning disability; Seizure | Female | |||
| 312750.23 | United Arab Emirates | Intellectual disability; Delayed speech and language development; Motor delay; Ataxia | Female |