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Table of Genetic Disorders - Loyola University Chicago

Table of Genetic Disorders Disease Gene/Defect inheritance Clinical Features Achondroplasia Fibroblast growth factor receptor 3 (FGR3) constitutively active (gain of function) Autosomal dominant (normal parents can have an affected child due to new mutation, and risk of recurrence in subsequent children is low) Short limbs relative to trunk, prominent forehead, low nasal root, redundant skin folds on arms and legs Cystic Fibrosis Cystic fibrosis transmembrane regulator (CFTR) impaired chloride ion channel function Autosomal Recessive (most common Genetic disorder among Caucasians in North America) Pancreat

Inheritance characterized by anticipation Disorder shows anticipation (female transmitters in succeeding generations produce increasing numbers of affected males) Boys with syndrome have long faces, prominent jaws, large ears, and are likely to be mentally retarded.

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