Cartilage-Hair Hypoplasia

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Disease Name 
Cartilage-Hair Hypoplasia
Disease Information 

Cartilage-Hair Hypoplasia is a disorder of bone growth characterized by short stature with other skeletal abnormalities; fine, sparse hair, and abnormal immune system function that can lead to recurrent infections.

Test Description 

Specific mutation analysis of the RMRP (nt70A).

Genes