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| Bull's eye maculopathy
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| Abnormality of urine catecholamine concentration
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| Cystoid macular edema
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| Patellar hypoplasia
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| Increased muscle lipid content
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| Generalized limb muscle atrophy
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| Hemiplegia
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| Loss of subcutaneous adipose tissue from upper limbs
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| Increased muscle glycogen content
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| Quadriceps muscle atrophy
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| Distal lower limb muscle weakness
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| Aplasia of the fovea
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| Polycoria
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| Anterior lenticonus
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| Abnormality of urine calcium concentration
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| Upper limb hypertonia
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| Cyanotic episode
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| Abnormality of periauricular region
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| Stapes ankylosis
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| Absent earlobe
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| Preauricular skin tag
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| Abnormality of the skull
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| Nasal mucosa telangiectasia
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| Abnormality of skeletal maturation
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| Abnormality of the nasal tip
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| Abnormality of the vertebral column
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| Underdeveloped nasal alae
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| Wide nasal bridge
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| Enlargement of the costochondral junction
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| Abnormality of the nasal mucosa
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| Age-related macular degeneration
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| Seizures
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| Right ventricular outlet obstruction
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| Intellectual disability, mild
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| Endocardial fibroelastosis
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| Severe T-cell immunodeficiency
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| Susceptibility to herpesvirus
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| C1-C2 vertebral abnormality
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| Bilobate gallbladder
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| Gallbladder dysfunction
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| Absent cellular immunity
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| Right ventricular failure
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| Hip dysplasia
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| Large cafe-au-lait macules with irregular margins
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| Hyperpigmented nevi and streak
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| Abnormality of the tracheobronchial system
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| Congenital giant melanocytic nevus
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| Ligamentous laxity
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| Progressive vitiligo
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| Numerous congenital melanocytic nevi
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| Exaggerated cupid's bow
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| Peters anomaly
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| Fibrocystic lung disease
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| Verrucae
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| Skin ulcer
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| Skin erosion
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| Epidermoid cyst
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| Reduced amplitude of pattern visual evoked potentials
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| Diplopia
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| Lower eyelid coloboma
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| Sparse eyelashes
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| Decreased electroretinogram (ERG) amplitude
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| Vitreoretinal degeneration
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| Ectropion
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| Oculomotor apraxia
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| Hepatic calcification
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| Decreased mitochondrial complex III activity in liver tissue
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| Respiratory failure
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| Anisospondyly
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| Apneic episodes precipitated by illness, fatigue, stress
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| Obstructive sleep apnea
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| Central apnea
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| Diffuse hepatic steatosis
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| Acute hepatic failure
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| Polycystic liver disease
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| Exertional dyspnea
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