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HGNC

GENATLAS PHENOTYPE

last update : 20-06-2019

Symbol	CADDLS
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))