Entertainment Quiz / First Aid, Inheritance patterns

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Can you name the First Aid, Inherited diseases

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AD, trinucleotide repeat of CTG
XLR, lower function dystrophin
XLR, deficient alpha-galactosidase
AR, defect on chromosome 1, deficient glucocerebrosidase
AR, defect on chromosome 16, protein has 4 loci
XLR, HGPRT deficiency
XLR, frameshift deletion of dystrophin
AD, mutation on chromosome 16, berry aneurysms
AD, mutant APC gene on chromosome 15
XLR, deficiency in EL-α subunit of larger complex
AR, inability to phosphorylate fructose
AR, defect on chromosome 6, infantile form of adult disease
XLR, immature B cells, mutated BTK gene
AR, trinucleotide repeat of GAA
AR, class of metabolic diseases
AD, telangiactasias, epistaxis, AVMs
AR, defect tested at birth by Guthrie test
AD, incomplete penetrance, facial lesions, increased astrocytomas
AR, defect on chromosome 11, mutated subunit
AD, defect on chromosome 15, lisch nodules
AR, inability to metabolize a monosaccaride of lactose
AD, achilles xanthomas, early MI, defect in LDL receptor
XLR, non-functional small platelets
XLR, deficiency in factor VIII or IX
AR, defect in sphyngomyelinase
XLR, deficient iduronate-2-sulfatase
AR, deficiency in aldolase B
AD, defect in akyrin or spectrin
AR, deficient glucose-6-phosphatase
AR, ∆F508 mutation on chromosome 7, Na-Cl transport affected
AR, deficient MTP gene, ↓B48,100 ↓chylomicron, inability to export lipids from enterocytes
AR, defect on chromosome 6, mutation of HFE gene
AD, defect on chromosome 4, caudate atrophy, choreiform movements
XLR, missing retinal melanin
AR, defect on chromosome 15, deficient hexosaminidase
AD, defect on chromosome 15, subluxation of lenses
AD, defect on chromosome 3, deletion of VHL, constitutive expresion of HIF
XLR, urea cycle disorder, presents in 2nd day of life
AD, defect on chromosome 22, bilateral acoustic schwannomas
AD, associated with RET gene
AD, defect in FGF receptor 3
AR, defect on chromosome 14, deficient galactocerebrosidase
XLR, trinucleotide repeat of CGG
XLR, oxidative damage, triggered by foods and sulfa drugs

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