Adenosine monophosphate deaminase 2 deficiency

Synonym(s)
- Pontocerebellar hypoplasia type 9
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- AMPD2 / Adenosine Monophosphate Deaminase 2
  1p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adenosine monophosphate deaminase 2, muscle isoform
Disease group(s)
- 16.2 Disorders of purine metabolism
Child entries
- Autosomal recessive spastic paraplegia type 63