Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- UBTF / Upstream Binding Transcription Factor, Mitochondrial
  17q21.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Upstream binding transcription factor, mitochondrial
Disease group(s)
- 16.5 Other disorders of ribosomal biogenesis