National Institute of Neuroscience (National Center of Neurology and Psychiatry)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 13
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Sep 23, 2020 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Sep 23, 2020 |
| Creatine transporter deficiency | 1 | Sep 23, 2020 |
| DYRK1A-related intellectual disability syndrome | 1 | Sep 23, 2020 |
| Developmental and epileptic encephalopathy, 32 | 1 | Sep 23, 2020 |
| Hereditary spastic paraplegia 4 | 1 | Sep 23, 2020 |
| Intellectual disability, X-linked 1 | 1 | Sep 23, 2020 |
| KBG syndrome | 1 | Sep 23, 2020 |
| Macrocephaly-autism syndrome | 1 | Sep 23, 2020 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Feb 26, 2024 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 1 | Sep 23, 2020 |
| Pitt-Hopkins syndrome | 1 | Sep 23, 2020 |
| Syndromic X-linked intellectual disability Snyder type | 1 | Sep 23, 2020 |