| DS | Down syndrome |
| MB | medulloblastoma |
| WNT | wingless |
| CNS | central nervous system |
| CPS | cancer predisposition syndrome |
| CT | computed tomography |
| MRI | magnetic resonance imaging |
| SNP | single nucleotide polymorphism |
| NGS | next-generation sequencing |
| CES | clinical exome sequencing |
| CH | congenital hypothyroidism |
| ABD | adaptor-binding domain |
| CNS-PNET | central nervous system primitive neuroectodermal tumors |
| SHH | Sonic hedgehog |
| CGNPs | cerebellar granule neuron progenitor cells |