POP1 deficiency

Synonym(s)
- Anauxetic dysplasia type 2
Type

Disease
External link(s)
- IEMbase
Gene
- POP1 / POP1 Ribonuclease
  8q22.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Processing of precursor RNA, ribonuclease subunit
Disease group(s)
- 16.5 Other disorders of ribosomal biogenesis