MAEA

macrophage erythroblast attacher
OMIM: 606801, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MAEA in Mendeliome


Version 1.3050

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, MAEA-related

Amber MAEA in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.334

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, MAEA-related

Amber MAEA in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.288

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, MAEA-related