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| Sclerosis with transverse striations in metaphyses of the upper limbs
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| Generalized muscle weakness
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| Aplasia/Hypoplasia of the corpus callosum
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| Myalgia
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| Abnormality of circulating catecholamine level
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| Edema of the dorsum of feet
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| Neoplasm of the gastrointestinal tract
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| Neoplasm of the genitourinary tract
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| Abnormality of pancreas physiology
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| Abnormality of pancreas morphology
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| Paroxysmal nocturnal hemoglobinuria
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| Normocytic hypoplastic anemia
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| Multiple joint dislocation
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| Abnormal pancreas size
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| Intracranial dermoid cyst
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| Intracranial epidermoid cyst
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| Pre-B-cell acute lymphoblastic leukemia
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| Post-transfusion thrombocytopenia
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| Congenital hypoplastic anemia
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| Drug-sensitive hemolytic anemia
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| Fava bean-induced hemolytic anemia
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| Abnormality of the epiphysis of the distal phalanx of the 5th toe
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| Bradycardia
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| Polyclonal elevation of IgM
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| EMG
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| Ventricular fibrillation
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| Antineutrophil antibody positivity
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| Increased serum iron
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| Increased rate of premature chromosome condensation
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| Axonal regeneration
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| EMG abnormality
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| Low urinary cyclic AMP response to PTH administration
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| Elevated long chain fatty acids
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| Platelet antibody positive
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| Intrapulmonary sequestration
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| Abnormality of urine bicarbonate concentration
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| Recurrent mycobacterial infections
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| Recurrent mycobacterium avium complex infections
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| Vascular skin abnormality
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| Abnormality of the urinary system physiology
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| Duplicated tragus
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| Prominent tragus
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| Underdeveloped tragus
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| Right ventricular hypertrophy
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| Handgrip myotonia
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| Abnormal lower-limb motor evoked potentials
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| Widened interpedicular distance
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| Lymphopenia
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| Iron accumulation in brain
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| Aplasia of the lower vagina
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| Iron accumulation in globus pallidus
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| Megaloblastic anemia
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| Abulia
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| Orthostatic syncope
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| Aplasia of the upper vagina
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| Akinetic mutism
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| Distal ileal atresia
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| Oral cavity teleangiectasia
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| Transposition of the great arteries
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| Furrowed tongue
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| Velopharyngeal insufficiency
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| Abnormality of taste sensation
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| Gingival hyperkeratosis
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| Gingival bleeding
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| Decreased taste sensation
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| Tongue telangiectasia
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| Abnormality of the cell cycle
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| Abnormality of chromosome condensation
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| Metamorphopsia
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| Chronic
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| Subacute
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| Abnormality of polysaccharide metabolism
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| Abnormality of carbohydrate metabolism/homeostasis
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| Abnormal glucose homeostasis
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| Abnormality of blood glucose concentration
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| Abnormality of urine glucose concentration
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| Abnormality of the posterior cranial fossa
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| Abnormality of forebrain morphology
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| Laryngotracheomalacia
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| Laryngeal calcification
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| Unilateral vocal cord paralysis
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| Bowing of the vocal cords
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| Laryngeal cleft
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| Thickened cortex of long bones
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| Aplasia of the epiglottis
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| Laryngeal cartilage malformation
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| Abnormality of the 2nd finger
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| Heat intolerance
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| Intellectual disability, severe
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| Oppositional defiant disorder
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| Hypothermia
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| Ocular dyssynergia
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| Elevated alkaline phosphatase of bone origin
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| Elevated alkaline phosphatase of hepatic origin
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| Partial anosmia
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| Total anosmia
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| Abnormality of the epiphyses of the feet
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| Abnormality of metatarsal epiphysis
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| Zollinger-Ellison syndrome
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| Schizencephaly
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