CDC40

cell division cycle 40
OMIM: 605585, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red CDC40 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 15, MIM# 619302
  • microcephaly
  • seizures

Red CDC40 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 15, MIM# 619302
  • microcephaly
  • seizures