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5 Cards in this Set

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  • Back
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Phenotype: long face, prominent ears (more pronounces with age), large testes, DD/MR
Fragile X
Gene: FMR1
TNR: CGG upstream of start site
MOI: XL
Phenotype: cataracts, inability to release handshake, droppy mouth, LD in adults
Myotonic Dystrophy
Gene: DMPK
TNR: GTG in 3' UTR
MOI: AD (maternal expansion)
Phenotype: progressive ataxia, absent reflexes, speech issues
Friedrich Ataxia
Gene: FRDA
TNR: GAA in intron
MOI: AR
Only recessive TNR disorder
Phenotype: articulation and swallowing difficulties; androgen insensitivity (testicular feminization)
SBMA
Gene: AR
TNR: GAA in exon
MOI: XL
Phenotype: neurodegeneration starting ~50y, chorea, personality changes
Huntington Disease
Gene: IT-19
TNR: CAG in exon
MOI: AD (paternal expansion)