Description
UNDER CONSTRUCTION. DO NOT USE.

1 reviewer

  • Lilian Downie (Victorian Clinical Genetics Services)

2 Entities

2 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
2 Entitiess
Green Green List (high evidence)
ACADM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of MIM# 201450
Tags
Red Red List (low evidence)
ACADVL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • VLCAD deficiency MIM#201475
Tags

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