Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 20-06-2019
Location 16p13.3
Name Cutaneous Albinism, Developmental Delay, and Lysosomal Storage
Corresponding gene CLCN7
Main clinical features
  • skin and hair hypopigmentation but normally pigmented irides; growth and development were delayed, and both probands exhibited organomegaly: enlarged liver and spleen, increased liver echogenicity compatible with steatosis or glycogen storage, and poor corticomedullary differentiation in the kidneys
  • delayed myelination on brain MRI , but not dysostosis multiplex or osteopetrosis; cytoplasmic inclusions: in the liver, duodenum, and skin
  • Genetic determination
    Function/system disorder
    Type disease
    Remark(s) . de novo (p.Tyr715Cys) change in CLCN7 appears to be a gain-of-function variant (PMID: 31155284))