Chain986: Maple Syrup Urine Disease Type IA

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
BCKDHAchr19:41928548,chr19:41930401,chr19:41930487

Qualitative

Type

text

Possible responses

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