EIF5A

eukaryotic translation initiation factor 5A
OMIM: 600187, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green EIF5A in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Faundes-Banka syndrome, MIM# 619376
  • Intellectual disability
  • microcephaly
  • dysmorphism

Green EIF5A in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Faundes-Banka syndrome, MIM# 619376
  • Intellectual disability
  • microcephaly
  • dysmorphism

Green EIF5A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Faundes-Banka syndrome, MIM# 619376
  • Intellectual disability
  • microcephaly
  • dysmorphism

Green EIF5A in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Faundes-Banka syndrome, MIM# 619376
  • Intellectual disability
  • microcephaly
  • dysmorphism