CMAS

cytidine monophosphate N-acetylneuraminic acid synthetase
OMIM: 603316, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red CMAS in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CMAS-related

Red CMAS in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, CMAS-related