Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022786.2:c.294+1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617020.3.1 | Lebanon | Death in childhood; Epileptic encephalopathy; Severe global developmental delay; Intellectual disability, profound; Microcephaly; Visual impairment; Retinal dystrophy; Delayed speech and language development; Hypotonia; Limb hypertonia; Poor head control; Dystonia; Spasticity; Scoliosis; Hip dysplasia; Aspiration pneumonia; Feeding difficulties | Female | Yes | Yes | Proband |
| 617020.3.3 | Lebanon | Death in childhood; Epileptic encephalopathy; Severe global developmental delay; Intellectual disability, profound; Microcephaly; Visual impairment; Delayed speech and language development; Hypotonia; Limb hypertonia; Poor head control; Dystonia; Aspiration pneumonia; Feeding difficulties | Female | Yes | Yes | Cousin of patient 617020.3.1 |
| 617020.3.4 | Lebanon | Death in childhood; Epileptic encephalopathy; Severe global developmental delay; Intellectual disability, profound; Microcephaly; Visual impairment; Retinal dystrophy; Hypotonia; Limb hypertonia; Poor head control; Aspiration pneumonia; Feeding difficulties | Male | Yes | Yes | Cousin of patient 614020.3.1 |
| 617020.3.5 | Lebanon | Death in childhood; Epileptic encephalopathy; Severe global developmental delay; Intellectual disability, profound; Visual impairment; Hypotonia; Limb hypertonia; Poor head control; Aspiration pneumonia; Feeding difficulties | Male | Yes | Yes | Cousin of patient 614020.3.1 |