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| Rib exostoses
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| Rachitic rosary
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| Short clavicles
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| Hooked clavicles
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| Bifid ribs
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| Bulging of the costochondral junction
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| Long clavicles
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| Cervical ribs
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| Anterior synechiae of the anterior chamber
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| Sclerosis of the distal phalanx of the thumb
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| Abnormality of the lacrimal gland
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| Atrial fibrillation
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| Dilatation of the ascending aorta
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| Dilatation of the abdominal aorta
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| Dilatation of the aortic arch
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| Abnormalities of the peripheral arteries
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| Supraventricular arrhythmia
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| Arterial tortuosity
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| Elevated diastolic blood pressure
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| Sclerosis of the proximal phalanx of the thumb
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| Colonic atresia
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| Subcutaneous nodule
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| Eye poking
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| Ectopic accesory toe-like appendage
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| Ectopic accesory finger-like appendage
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| Polydactyly
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| Bifid femur
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| Pulmonary insufficiency
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| Freckling
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| Tricuspid stenosis
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| Anal fistula
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| Carotid artery tortuosity
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| Abnormal migration of corneal endothelium
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| Partial agenesis of the corpus callosum
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| Abnormality of corneal endothelium
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| Hypopigmented fundi
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| Multiple digital exostoses
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| Syncope
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| Orthostatic hypotension
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| Bimanual synkinesia
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| Polyneuropathy
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| Motor delay
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| Abnormality of the corpus callosum
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| Cerebellar atrophy
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| Agenesis of corpus callosum
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| Hypertonia
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| Tremor
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| Penoscrotal transposition
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| Eclampsia
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| Preeclampsia
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| Toxemia of pregnancy
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| Neoplasm of the lip
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| Neoplasm of the larynx
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| Neoplasm of the respiratory system
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| Dysmenorrhea
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| Metrorrhagia
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| Hypermenorrhea
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| Bilateral postaxial polydactyly
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| Decreased finger mobility
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| Enlarged metacarpal epiphyses
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| Coalescence of tarsal bones
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| Distal symphalangism (feet)
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| Absent distal phalanges
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| Gout (feet)
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| Short distal phalanx of toe
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| Abnormality of the tarsal bones
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| Bifid distal phalanx of toe
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| Sandal gap
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| Sclerosis of the proximal phalanx of the 3rd toe
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| Sclerosis of the proximal phalanx of the 4th toe
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| Sclerosis of hallux phalanx
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| Sclerosis of the proximal phalanx of the 2nd toe
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| Aprosencephaly
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| Spinal muscular atrophy
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| Sclerosis of the proximal phalanx of the 5th toe
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| Sclerosis of the middle phalanx of the 2nd toe
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| Absent mesencephalon
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| Cerebral dysmyelination
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| Chronic axonal neuropathy
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| Type II lissencephaly
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| Symmetric peripheral demyelination
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| Spinocerebellar atrophy
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| Hypoplastic pulmonary veins
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| Congenital macroorchidism
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| Tegumentary leishmaniasis susceptibility
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| Absence of subcutaneous fat over entire body except buttocks, hips, and thighs
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| Irregular hyperpigmentation
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| Noninflammatory macular atrophy
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| Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
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| Hypertrophy of skin of soles
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| Nonepidermolytic palmoplantar keratoderma
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| Hyperpigmentation of eyelids
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| Excessive skin wrinkling on dorsum of hands and fingers
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| Lens luxation
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| EEG with temporal focal spikes
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| Conjunctival lipoma
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| Skeletal muscle fatty infiltration
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| EEG with occipital focal spike waves
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| EEG with frontal focal spike waves
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| EEG with temporal focal spike waves
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