LA14038-6
Krabbe disease
Active
Answer Description
Krabbe disease is an inherited disorder that affects the nervous system. This condition is characterized by severe muscle weakness, slow mental and physical development, vision loss, and seizures. Mutations in the GALC gene cause Krabbe disease; it has an autosomal recessive pattern of inheritance.
Answer Lists using this Answer Code
| Answer List | Answer List Name | Externally Defined |
|---|---|---|
| LL1043-0 | LDS | N |
| LL835-0 | NBS conditions | N |
| LL841-8 | NBS conditions tested | N |
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