MAEA

macrophage erythroblast attacher
OMIM: 606801, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MAEA in Mendeliome


Version 1.4216

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

Amber MAEA in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.405

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

Green MAEA in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.638

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