Nicotinamide mononucleotide adenylyl transferase 1 deficiency

Synonym(s)
- Leber congenital amaurosis 9
Type

Disease
External link(s)
- IEMbase
Gene
- NMNAT1 / Nicotinamide Nucleotide Adenylyltransferase 1
  1p36.22
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Nicotinamide nucleotide adenylyltransferase 1
Disease group(s)
- 21.4 Disorders of niacin and NAD metabolism