Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001079537.1:c.150-2A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617862.4.1 | Egypt | Delayed ability to walk; Delayed fine motor development; Delayed speech and language development; Impaired social interactions; Hyperactivity; Recurrent hand flapping; Nystagmus; Hypotonia; Seizure; Strabismus; Recurrent fractures | Unknown | Yes | Yes | Patient is from Sharqia in Lower Egypt |