LA14040-2
Niemann Pick disease A/B
Active
Answer Description
Niemann-Pick disease is an inherited disorder in which the body in unable to process fats and cholesterol properly. People with this condition have some combination of the following features: failure to thrive, an enlarged liver and spleen, neurological problems, frequent lung infections, an increased risk of abnormal blood clots, developmental delay, seizures, and poor muscle tone. Mutations in the SMPD1 gene causes Niemann-Pick 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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