Entertainment Quiz / First Aid, Inheritance patterns

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Can you name the First Aid, Inherited diseases

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

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