MOCS3

molybdenum cofactor synthesis 3
OMIM: 609277, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber MOCS3 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Molybdenum cofactor deficiency MONDO:0020480

Amber MOCS3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Molybdenum cofactor deficiency MONDO:0020480