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| Hepatic periportal necrosis
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| Hypotension
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| Varicose veins
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| Multiple plantar creases
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| Plantar flexion contractures
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| Broad distal hallux
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| Equinovarus deformity
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| Shortening of the talar neck
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| Flexion limitation of toes
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| Clinodactyly of the 3rd toe
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| Metatarsal diaphyseal endosteal sclerosis
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| Persistent open anterior fontanelle
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| Deformed tarsal bones
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| Atretic occipital cephalocele
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| Aplasia cutis congenita over the scalp vertex
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| Mandibular hyperostosis
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| Difficulty standing
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| Pseudarthrosis (humeral)
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| Periosteal new bone (humeral)
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| Impaired tactile sensation
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| Lytic defects (humeral)
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| Humerus varus
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| Early cutaneous photosensitivity
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| Axillary apocrine gland hypoplasia
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| Hyperkeratosis with erythema
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| Crumpled humerus
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| Excessive wrinkled skin
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| Exostoses (humeral)
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| Triangular epiphysis of the proximal phalanx of the 2nd toe
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| Abnormality of pain sensation
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| Abnormality of the pubic hair
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| Dissociated sensory loss
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| Trophic changes related to pain
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| Stippling of the epiphysis of the proximal phalanx of the 2nd toe
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| Decreased serum ceruloplasmin
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| Bracket epiphysis of the distal phalanx of the 3rd toe
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| Abnormality of copper homeostasis
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| Cone-shaped epiphysis of the distal phalanx of the 3rd toe
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| Sandwich appearance of vertebral bodies
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| Lumbar kyphoscoliosis
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| Slender middle phalanx of finger
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| Abnormality of the occipital bone
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| Abnormal genital pigmentation
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| Fusion of gums
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| Tracheal neoplasm
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| Mouth neoplasm
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| Lumbar spinal canal stenosis
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| Anterior concavity of thoracic vertebrae
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| cervical spine segmentation defects
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| Absent epiphysis of the distal phalanx of the 3rd toe
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| spina bifida occulta at S1
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| Cleft vertebral arch
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| Butterfly vertebral arch
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| Short proximal phalanx of toe
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| Hypersegmentation of proximal phalanx of third finger
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| Decreased activity of mitochondrial complex III
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| Decreased activity of mitochondrial ATP synthase complex
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| Proximal placement of hallux
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| Short digit
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| Transudative pleural effusion
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| Exudative pleural effusion
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| Abnormal activity of mitochondrial respiratory chain
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| Decreased activity of mitochondrial complex I
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| Triangular shaped distal phalanx of the thumb
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| Aplasia of the distal phalanx of the thumb
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| Curved distal phalanx of the thumb
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| Osteolytic defect of the distal phalanx of the thumb
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| Patchy sclerosis of the distal phalanx of the thumb
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| Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal
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| Aplasia/Hypoplasia of the distal phalanx of the thumb
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| Broad distal phalanx of the thumb
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| Bullet-shaped distal phalanx of the thumb
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| Central retinal exudate
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| Atretic lacrimal punctum
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| Nodular corneal dystrophy
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| Total ophthalmoplegia
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| Cataracts develop in second or third decade
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| Diffuse retinal cone degeneration
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| Deviation of the 2nd finger
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| Irregular phalanges
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| Irregular epiphyses of the 4th finger
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| Ivory epiphyses of the 4th finger
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| Chondritis of pinna
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| Triangular epiphyses of the 5th finger
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| Absent epiphyses of the 4th finger
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| Small epiphyses of the 5th finger
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| Stippling of the epiphyses of the 5th finger
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| Enlarged epiphyses of the 4th finger
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| Partial fusion of carpals
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| Bracket epiphyses of the 4th finger
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| Cone-shaped epiphyses of the 4th finger
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| Sclerosis of the distal phalanx of the 5th toe
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| Early balding
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| Pili canaliculi
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| Aplasia/Hypoplasia of the 3rd metacarpal
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| Short 2nd metacarpal
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| Frontal upsweep of hair
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| Patchy sclerosis of the 1st metacarpal
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| Osteolytic defects of the 1st metacarpal
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| Triangular shaped 1st metacarpal
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