Adenylosuccinate synthase-like 1 deficiency

Synonym(s)
- Distal myopathy type 5
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ADSS1 / Adenylosuccinate Synthase 1
  14q32.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Adenylosuccinate synthase isozyme 1
Disease group(s)
- 16.2 Disorders of purine metabolism