Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS | C4479603 | SPTBN4 | Causal Pathogenic evidence from ClinVar | 28540413 | ClinVar |