Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 07-10-2016

Symbol	LCA17
Location	8q22.1
Name	Leber congenital amaurosis 17
Corresponding gene	GDF6
Main clinical features	early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction patients usually present at birth with profound vision loss and pendular nystagmus electroretinogram (ERG) responses are usually nonrecordable
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Remark(s)