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Chediak-Higashi syndrome
Summary
- Synonym
-
- CHS
- Chediak - Steinbrinck anomaly
- Definition
- A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
- Super Class
- autosomal recessive disease syndrome
