EIF1AX

eukaryotic translation initiation factor 1A X-linked
OMIM: 300186, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EIF1AX in Mendeliome


Version 2.268

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, EIF1AX-related

Green EIF1AX in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.41

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, EIF1AX-related

Green EIF1AX in Growth failure


Version 2.9

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, EIF1AX-related