| Disease ID | Source | Name | Description |
| 618875 | OMIM | Seizures, early-onset, with neurodegeneration and brain calcification (SENEBAC) | An autosomal recessive neurodegenerative disorder clinically characterized by refractory seizures apparent in the first year of life, mild early developmental delay, and developmental regression after seizure onset. Other features include hypotonia, hyperreflexia, peripheral spasticity, poor eye contact, absent speech, poor head control, and inability to walk. Brain imaging shows reduced white matter volume with delayed myelination, and punctate calcifications. The protein represented in this entry is involved in disease pathogenesis. |