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| Hypothalamic hamartoma
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| Aplasia cutis congenita on trunk or limbs
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| Reticular hyperpigmentation
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| Scarring
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| Subcutaneous neurofibromas
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| Mediosternal, longitudinal streak of hypopigmentation
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| Increased corneal curvature
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| Telangiectasia macularis eruptiva perstans
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| Mosaic central corneal dystrophy
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| Skin fragility with non-scarring blistering
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| Retinal arteriolar occlusion
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| Telangiectases producing 'marbled' skin
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| Tibial deviation of the 4th toe
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| Fibular deviation of the 4th toe
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| Tibial deviation of the 3rd toe
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| Fibular deviation of the 3rd toe
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| Tibial deviation of the 2nd toe
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| Fibular deviation of the 2nd toe
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| Tibial deviation of the 5th toe
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| Fibular deviation of the 5th toe
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| Contracture of the proximal interphalangeal joint of the 3rd toe
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| Contracture of the proximal interphalangeal joint of the 2nd toe
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| Bullet-shaped proximal phalanx of the 5th toe
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| Bullet-shaped proximal phalanx of the 4th toe
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| Abnormal male reproductive system physiology
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| Absent/shortened dynein arms
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| Reduced amplitude of b-wave (ERG)
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| Nonocclusive coronary artery disease
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| Vanishing testis
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| Shortened inner dynein arms
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| Enlarged semicircular canal
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| Anejaculation
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| Ptosis
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| Conjunctivitis
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| Aspartylglucosaminuria
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| Keratan sulfate excretion in urine
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| Unicameral bone cyst
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| Multiple bony cystic lesions
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| Increased urinary disaccharide excretion
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| Glycopeptiduria
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| Acral lentiginous melanoma
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| Urinary excretion of sialylated oligosaccharides
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| Bone cyst
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| Aneurysmal bone cyst
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| Congenital hemolytic anemia
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| Absent fifth toenail
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| Duodenal diverticula
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| Episodic hemolytic anemia
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| Neonatal alloimmune thrombocytopenia
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| Acute myeloid leukemia
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| Pigmented micronodular adrenocortical disease
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| Vesicovaginal fistula
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| Paradoxical increased cortisol secretion on dexamethasone suppression test
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| Atlantoaxial instability
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| Abnormal cholesterol homeostasis
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| Elevated 8(9)-cholestenol
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| Elevated 8-dehydrocholesterol
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| Increased extraneuronal autofluorescent lipopigment
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| Total immunoglobulin A deficiency
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| Increased urinary O-linked sialopeptides
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| Microtia, third degree
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| Microtia, first degree
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| Cleft earlobe
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| Discontinuous ascending root of helix
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| Forward facing earlobe
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| Crimped helix
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| Abnormality of the vertebrae
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| Peripheral dysmyelination
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| Hypermagnesiuria
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| Hypomagnesiuria
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| Abnormal urine chloride concentration
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| Hypochloriduria
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| Renal chloride wasting
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| Abnormal urine sodium concentration
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| Hyponatriuria
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| Hypernatriuria
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| Renal sodium wasting
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| Abnormal urine magnesium concentration
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| Acute
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| Termporal pattern
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| Severe Myopia
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| Osteopetrosis
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| Increased bone mineral density
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| Aplasia/Hypoplasia of the optic tract
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| Abnormality of the musculature of the neck
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| Mixed cirrhosis
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| Abnormality of the systemic arterial tree
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| Abnormality of the skeletal system
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| Absence of labia majora
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| Primary testicular failure
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| Urethral diverticulum
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| Gonadal dysgenesis with female appearance, male
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| Hypoplasia of the ovary
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| Hypoplasia of the vagina
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| Muscle mounding
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| Persistent stapedial artery
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| Midline nasal groove
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| Radially deviated index finger phalanges
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| Muscle hypertrophy
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| Muscle fiber necrosis
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