Condition: Low Vision
rs779027563
in
CNTNAP1
gene and
Low Vision
PMID 27668699
2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
rs1057519463
in
HEXA
gene and
Low Vision
PMID 23852624
2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.