CCDC47

coiled-coil domain containing 47
OMIM: 618260, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green CCDC47 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Trichohepatoneurodevelopmental syndrome, 618268

Green CCDC47 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Trichohepatoneurodevelopmental syndrome, 618268