CCDC84

coiled-coil domain containing 84
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CCDC84 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 4 (MIM#620153)

Amber CCDC84 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 4 (MIM#620153)

Amber CCDC84 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 4 (MIM#620153)