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C217406Level 8

Familial Amyloid Polyneuropathy Type IV

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant inherited form of familial amyloid neuropathy caused by mutation(s) in the GSN gene, encoding gelsolin. It is characterized by lattice corneal dystrophy, cranial neuropathy, bulbar signs, and skin changes.

**Synonyms:** - AGel Amyloidosis - Familial Amyloidosis of Finnish Type - Familial amyloid neuropathy, Finnish type - Finnish Hereditary Amyloidosis - Hereditary Gelsolin Amyloidosis - Meretoja Syndrome

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