medicine curiosity
Category: Other
Updated: 24 Oct 2017
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Created byMoises Littig
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Sd Joubert (French neurologist - Marie Joubert)Dç Menkes - Menkes et al at Columbia UniversityKearns-Sayre syndromeLeigh syndrome - subacute necrotising encephalomyelopathy - mitocondrial disorderDandy-Walker malformationRhombencephalosynapsisLhermitte-Duclos disease - dysplastic cerebellar gangliocytomaCowden syndrome - multiple hamartoma syndromeMeckel-Gruber syndromeFryns syndromeCoffin-Siris syndromeCoffin-Lowry syndromePHACE syndrome - cutaneous haemangioma–vascular complex + eyeWyburn-Mason/Bonnet-Dechaume-Blanc syndrome
craniofacial arteriovenous metameric syndrome (CAMS)Aicardi syndromeApert syndrome - acrocephalosyndactyly IZellweger syndrome - cerebrohepatorenal syndromePosterior reversible encephalopathy syndromeWolman diseaseFabry diseaseHurler syndrome - mucopolysaccharidosis (MPS type I).Krabbe disease
globoid cell leukodystrophyMorquio syndrome
mucopolysaccharidosis (MPS), type IVGaucher diseaseNiemann-Pick diseaseTay sachs diseaseCrouzon syndromeCarpenter syndrome
acrocephalopolysyndactyly type II ACPSNoack syndromeSakati-Nyhan syndrome
acrocephalosyndactly type IIIKlippel-Feil syndromeWildervanck syndrome
cervico-ocular-acoustic dysplasiaHydrolethalus syndromeSmith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiencyHirschsprung diseaseWaardenburg syndromeBardet-Biedl syndromePallister-Hall syndromeAarskog-Scott syndrome
facio-digito-genitalWernicke-Korsakoff syndromeAmyotrophic lateral sclerosis
Lou Gehrig disease or Charcot diseaseesresioneuroblastomaDorello canalGradenigo syndromeGardner and Richards
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