Genetics
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Acute hepatic porphyrias
Disease
Alpha-1 antitrypsin deficiency
Disease
Arachnodactyly
Presentation
Autosomal dominant polycystic kidney disease
Disease
Blue sclerae
Presentation
Bone age, delayed
Presentation
Brugada syndrome
Disease
Café au lait spots
Presentation
Causes of iron overload — Investigation
Pathway
Cherry red spot on macula
Presentation
Chiari malformation
Disease
Chronic hearing loss
Disease
Congenital adrenal hyperplasia
Disease
Congenital dysfibrinogenemia
Disease
Congenital hypothyroidism
Disease
Cystic fibrosis
Disease
Distal myopathy
Presentation
Duchenne muscular dystrophy
Disease
Eunuchoid habitus
Presentation
Facioscapulohumeral muscular dystrophy
Disease
Factor V Leiden
Disease
Familial hypercholesterolemia
Disease
Familial Mediterranean fever
Disease
Hereditary angioedema
Disease
Hereditary hemochromatosis
Disease
Hereditary hemorrhagic telangiectasia
Disease
Huntington's disease
Disease
Hyperoxaluria
Disease
Iron overload
Presentation
Joint hypermobility
Presentation
Kyphosis
Presentation
Limb-girdle and distal dystrophies
Disease
Loeys-Dietz syndrome
Disease
Lynch syndrome
Disease
Macroglossia
Presentation
Macrostomia
Presentation
Madelung deformity
Presentation
Malar hypoplasia
Presentation
Malignant hyperthermia
Disease
Marfan syndrome
Disease
Megacolon
Presentation
Methemoglobinemia
Disease
Microcephaly
Presentation
Multiple endocrine neoplasia type 1
Disease
Peutz-Jeghers syndrome
Disease
Phenylketonuria
Disease
Plasma carnitine, decreased
Presentation
Prenatal screening for chromosomal abnormalities
Disease
Prothrombin G20210A
Disease
Pulmonary lymphangioleiomyomatosis
Disease
Renal angiomyolipoma
Disease
Retrognathia
Presentation
Schwannomatosis
Disease
Scoliosis
Presentation
Short stature
Presentation
Skull bossing
Presentation
Telomere shortening
Presentation
Thumb hypoplasia
Presentation
Tracheoesophageal malformations
Disease
Tuberous sclerosis complex
Disease
Turner syndrome
Disease
Wilson's disease
Disease