Contributions of
| Model organism studied | Human gene of interest | Neurological disease or phenotype associated | Year reported |
|---|---|---|---|
| Hypotonia, ataxia, delayed development | 2017 [62] | ||
| Infantile developmental delay, ataxia | 2017 [64] | ||
| Severe neurodevelopmental regression, hypotonia, ataxia, seizures, abnormal motor behaviors | 2018 [65] | ||
| Neurooculocardio-genitourinary syndrome | 2019 [66] | ||
| SWI/SNF-related intellectual disability disorder | 2020 [67] | ||
| Hypotonia, dystonia, ataxia, white matter abnormalities | 2020 [68] | ||
| Epileptic encephalopathy, hypotonia, general developmental delay | 2020 [69] | ||
| Glial loss (Schwann cell loss) | 2020 [70] | ||
| General developmental delay, neurologic deficits | 2021 [71] | ||
| Craniofacial and vertebral abnormalities, neurological deficits | 2021 [72] | ||
| Intellectual disability, seizures, behavioral abnormalities | 2021 [73] | ||
| Neurodevelopmental delay, early childhood epilepsy | 2021 [74] |
The list of