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| Disseminated intravascular coagulation
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| Chronic disseminated intravascular coagulation
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| Lymphoproliferative disorder
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| Pyridoxine-responsive sideroblastic anemia
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| Decreased activity of mitochondrial respiratory chain
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| Fasting hypoglycemia
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| Pallidal degeneration
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| Progressive peripheral neuropathy
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| Abnormality of dental eruption
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| Agenesis of maxillary central incisor
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| Discolored lateral incisors
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| Marked delay in eruption of permanent teeth
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| Hypoplasia of dental enamel
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| Prolonged bleeding after dental extraction
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| Irido-fundal coloboma
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| Monocular horizontal nystagmus
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| Lower limb amyotrophy
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| Iridoretinal coloboma
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| Periodic hyperkalemic paralysis
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| Long eyelashes in irregular rows
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| Spontaneous pain sensation
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| Cortical dysplasia
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| Abnormality of the cerebral cortex
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| Abnormal posturing
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| Axial dystonia
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| Abnormal cortical gyration
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| Univentricular heart with absent left sided atrioventricular connection
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| Ovotestis
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| Lateral femoral bowing
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| Normal-density transverse bands (humerus)
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| Pointed humeral metaphysis
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| Irregular ossification of humeral metaphyses
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| Lytic defects of the humeral metaphsis
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| Frayed humeral metaphyses
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| Irregular humeral metaphyses
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| Enlarged humeral metaphyses
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| Flared humeral metaphysis
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| Shortening of all metacarpals
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| Sclerotic humeral metaphysis
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| Sclerotic humeral metaphysis with longitudinal striations
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| Abnormal facility in opposing the shoulders
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| Elevated plasma pyrophosphate
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| Abnormality of the wing of the ilium
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| Bilateral trilobed lungs
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| Metaphyseal dappling
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| Abnormal sternal ossification
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| Abnormal bone collagen fibril morphology
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| Abnormal platelet function
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| Sciatica
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| Restricted chest movement
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| Triangular epiphysis of the 1st metatarsal
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| Synostosis involving bones of the upper limbs
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| Synostosis involving bones of the toes
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| Triangular epiphysis of the proximal phalanx of the 5th toe
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| Proximal symphalangism (feet)
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| Pseudoepiphysis of the proximal phalanx of the 5th toe
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| Ivory epiphysis of the proximal phalanx of the 5th toe
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| Stippling of the epiphysis of the proximal phalanx of the 5th toe
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| Small epiphysis of the proximal phalanx of the 5th toe
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| Amyotrophy of the musculature of the pelvis
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| Premature sternal synostosis
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| Abnormality of the spinal dura mater
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| Lumbosacral hirsutism
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| Thick nasal septum
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| Nephrosclerosis
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| Aplasia of the parotid gland
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| Distichiasis
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| Stiff shoulders
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| Atrophy/Degeneration involving the caudate nucleus
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| Large earlobe
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| Abnormality of the scaphoid
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| Broad carpal bones
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| Stippled calcification in carpal bones
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| Sclerotic foci within carpal bones
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| Small scaphoid
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| Delayed ossification of the scaphoid
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| Comma-shaped scaphoid
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| Accessory scaphoid
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| Accessory lunate
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| Abnormality of the lunate bone
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| Anomalous rib insertion to vertebrae
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| Asymmetric short stature
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| Persistent hyperplastic primary vitreous
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| Macroreticular retinal dystrophy
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| Speckled corneal dystrophy
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| Rarefaction of retinal pigmentation
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| Absence of visual evoked potentials
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| Degenerative vitreoretinopathy
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| Tibialis atrophy
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| Central hypotonia
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| Anhidrotic ectodermal dysplasia
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| Aplasia of the vestibular nerve.
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| Abnormality of the vestibular nerve
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| Morphological abnormality of the nerves of the inner ear
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| Morphological abnormality of the inner ear
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| Abnormality of the dorsal column of the spinal cord
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| Abnormality of the cochlear nerve
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| Aplasia/Hypoplasia of the cochlea
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| Hypoplasia of the vestibular nerve
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| Small epiphysis of the middle phalanx of the 2nd finger
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