Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 18-01-2012

Symbol	LCCH
Location	3q25
Name	low copper and ceruloplasmin with congenital cataracts and hearing loss
Corresponding gene	SLC33A1
Main clinical features	congenital cataracts, hearing loss, severe developmental delay, and cerebellar hypoplasia and is associated with low serum copper and ceruloplasmin cortical and cerebellar hypoplasia and hypomyelination
Genetic determination	autosomal recessive
Function/system disorder	ear
	eye
Type	disease

Remark(s)

mutation severely impair the function of SLC33A1 by leading to a shortened or absent protein treatment with copper did not result in an increase in copper or ceruloplasmin levels in serum (PMID: 22243965))