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| Premature pubarche
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| Pure red cell aplasia
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| Notched primary central incisor
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| Premature adrenarche
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| Hyperoxemia
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| Hypoxemia
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| Type I diabetes mellitus
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| Decreased adenosylcobalamin
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| Increased serum serotonin
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| Hypocholesterolemia
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| Hyperbetalipoproteinemia
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| T-wave inversion in the right precordial leads
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| Excessive purine production
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| Hyperuricosuria
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| Elevated serum acid phosphatase
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| Abnormality of cysteine metabolism
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| Abnormality of homocysteine metabolism
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| Arteriosclerosis
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| Atheromatosis
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| Aneurysm of an abdominal artery
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| Cerebral ischemia
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| Fat malabsorption
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| Ascending aortic aneurysm
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| Low-to-normal blood pressure
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| Vasculitis
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| Superficial thrombophlebitis
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| Budd-Chiari syndrome
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| Posterior choanal atresia
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| Neonatal unconjugated hyperbilirubinemia
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| Widely patent fontanelles and sutures
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| Craniofacial hyperostosis
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| Calvarial hyperostosis
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| Large posterior fontanelle
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| Decreased electrooculogram (EOG)
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| Abnormal cartilage matrix
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| Chronic rhinitis due to narrow nasal airway
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| Biconcave flattened vertebrae
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| Abnormality of somatosensory evoked potentials
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| Spurred metaphyses of the upper limbs
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| Sclerosis of metaphyses of the upper limbs
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| Atrophy/Degeneration involving the corticospinal tracts
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| Normal density transverse bands in metaphyses of the upper limbs
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| Lytic defects in metaphyses of the upper limbs
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| Irregular metaphyses of the upper limbs
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| Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
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| Abnormal hair laboratory examination
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| Abnormality of the subarachnoid space
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| Cortical diaphyseal thickening of the upper limbs
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| Cortical diaphyseal irregularity of the upper limbs
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| Tenesmus
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| Abnormal metabolic brain imaging by MRS
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| Widened subarachnoid space
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| Elevated brain lactate level by MRS
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| Elevated brain choline level by MRS
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| Decreased facial expression
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| Neutral hyperaminoaciduria
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| Impaired platelet adhesion
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| prominent supraorbital arches in adult
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| Factor X activation deficiency
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| Reduced factor XIII activity
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| Combined hyperlipidemia
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| Hyperprolinemia
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| Large tarsal bones
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| Fragmentation of the epiphysis of the proximal phalanx of the 5th toe
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| Impaired ristocetin-induced platelet aggregation
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| Bilateral cleft lip
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| Abnormality of the distal tibial epiphysis
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| Abnormality of fibular epiphyses
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| Abnormality of the distal femoral epiphysis
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| Abnormality of the proximal tibial epiphysis
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| Abnormality of the proximal radial epiphysis
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| Abnormality of the distal radial epiphysis
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| Optic nerve compression
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| Increased axial globe length
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| Fishnet retinal pigmentation
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| Granular corneal dystrophy
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| Monochromacy
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| Abnormality of the distal fibular epiphysis
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| Bilateral retinal coloboma
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| Punctate corneal dystrophy
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| Stippling of the epiphyses of the 4th finger
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| Triangular epiphyses of the 4th finger
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| Pseudoepiphyses of the 4th finger
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| Small epiphyses of the 4th finger
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| Patchy sclerosis of 4th finger phalanx
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| Triangular shaped phalanges of the 4th finger
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| Broad phalanges of the 4th finger
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| Bullet-shaped phalanges of the 4th finger
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| Aplasia/Hypoplasia of the phalanges of the 4th finger
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| Partial aniridia
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| Abnormal enchondral ossification
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| Abnormality of the 5th metacarpal
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| Abnormality of the 4th metacarpal
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| Abnormality of the 3rd metacarpal
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| Abnormality of the 2nd metacarpal
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| Cone-shaped epiphysis of the 1st metacarpal
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| Bracket epiphysis of the 1st metacarpal
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| Absent epiphysis of the 1st metacarpal
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| Abnormality of the epiphysis of the 1st metacarpal
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| Fragmentation of the epiphysis of the 1st metacarpal
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