CCDC93

coiled-coil domain containing 93
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red CCDC93 in Mendeliome


Version 1.3050

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Ritscher-Schinzel syndrome, MONDO:0019078, CCDC93-related

Red CCDC93 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.558

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Ritscher-Schinzel syndrome, MONDO:0019078, CCDC93-related

Red CCDC93 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.288

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Ritscher-Schinzel syndrome, MONDO:0019078, CCDC93-related