What presents with harmartomatous GI polyps, hyperpigmentation of mouth/feet/hands?	Peutz–Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
What presents with hepatosplenomegaly, osteoporosis, neurologic symptoms?	Gaucher disease (glucocerebrosidase deficiency)
What presents with hereditary nephritis, sensorineural hearing loss, cataracts?	Alport syndrome (mutation in collagen IV)
What presents with hyperphagia, hypersexuality, hyperorality, hyperdocility?	Kluver–Bucy syndrome (bilateral amygdala lesion)
What presents with Hyperreflexia, hypertonia, Babinski sign present?	UMN damage
What presents with hyporeflexia, hypotonia, atrophy, fasciculations?	LMN damage
What presents with hypoxemia, polycythemia, hypercapnia?	"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
What presents with indurated, ulceraed genital lesion?	nonpainful: chancre (primary syphilis, Treponema pallidum)\npainful w/ exudate: chancroid (Haemophilus ducreyi)
What presents with infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia?	Patau syndrome (trisomy 13)
What presents with Infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration?	Niemann–Pick disease (genetic sphingomyelinase deficiency)

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