Chain411: Congenital myasthenic syndrome

This is a rare disease.

Example use A

Rare disease screening of newborns or adults thinking of having children. Could also be used as part of a comprehensive analysis of a person's genes.

Developer

Dr. Colby

Genetic info

GenesGenetic variants
ADSLchr22:40754954,chr22:40760969,chr22:40742514
CHRNDchr2:233398797
RAPSNchr11:47470510

Qualitative

Type

text

Possible responses

Carrier, Possibly Affected, Not Detected, insufficient data, error