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| Osteolytic defects of the proximal phalanx of the 4th toe
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| Dysfunction of lateral corticospinal tracts
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| Osteolytic defects of the distal phalanx of the 3rd toe
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| Sclerosis of the proximal phalanx of the 3rd finger
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| Sclerosis of the proximal phalanx of the 2nd finger
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| Dense calcifications in the cerebellar dentate nucleus
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| Distal muscle weakness
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| Language impairment
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| Single trichilemmoma
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| Poor speech
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| Spastic dysarthria
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| Small intestinal bleeding
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| Exercise-induced myalgia
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| Myoclonic spasms
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| Congenital nonbullous ichthyosiform erythroderma
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| Congenital bullous ichthyosiform erythroderma
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| Thigh hypertrophy
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| EMG
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| Quadriceps muscle weakness
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| Autophagic vacuoles
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| Mitochondrial myopathy
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| Crusting erythematous dermatitis
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| Enlarged epiphyses
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| Ivory epiphyses
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| Irregular epiphyses
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| Abnormality of the lens
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| Abnormal T3/T4 ratio
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| Increased T3/T4 ratio
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| Illusory auras
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| EEG with central focal spike waves
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| Jamais vu
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| Hallucinatory auras
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| Mnemonic auras
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| Deja vu
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| Experiential auras
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| Affective auras
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| EEG with generalized spikes
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| EEG with generalized polyspikes
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| Slow saccadic eye movements
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| Thin metatarsal cortices
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| Absent fifth metatarsal
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| Metatarsal periosteal thickening
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| Progressive pes cavus
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| Osteoporotic tarsals
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| Cone-shaped epiphysis of the proximal phalanx of the 2nd finger
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| Sparse hair
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| Maternal hypertension
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| Maternal virilization in pregnancy
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| Low maternal serum estriol
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| Retinitis pigmentosa
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| Broad distal phalanx of the toes
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| Cerebral artery stenosis
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| Albinism
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| Skin dimple over apex of long bone angulation
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| Urticaria
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| Dysplastic distal radial epiphyses
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| Parathyroid agenesis
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| Gonadotropin deficiency
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| Decreased serum estradiol
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| Adrenal gland dysgenesis
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| Hair follicle neoplasm
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| Hyperalbuminemia
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| EEG with generalized slow activity grade 4
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| EEG with generalized slow activity grade 3
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| EEG with changes in voltage
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| EEG with generalized polymorphic epileptiform discharges
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| EEG with abnormally slow frequencies
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| EEG with diffuse acceleration
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| EEG with intermittent slow activity
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| Multiple epiphyseal dysplasia
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| EEG with generalized slow activity grade 2
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| EEG with generalized slow activity grade 1
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| Spondyloepiphyseal dysplasia
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| Absent scrotum
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| Skeletal dysplasia
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| Bone pain
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| Young adult onset
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| Spondyloepimetaphyseal dysplasia
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| Stippling of the epiphysis of the 1st metatarsal
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| Abnormality of the middle phalanx of the 3rd finger
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| Periosteal new bone of middle phalanx of middle-finger
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| Accessory middle phalanx of middle finger
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| Enlarged epiphysis of the 1st metatarsal
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| Fragmentation of the epiphysis of the 1st metatarsal
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| Bracket epiphysis of the 1st metatarsal
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| Cone-shaped epiphysis of the 1st metatarsal
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| Pseudoepiphysis of the 1st metatarsal
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| Small epiphysis of the 1st metatarsal
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| Irregular epiphysis of the 1st metatarsal
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| Ivory epiphysis of the 1st metatarsal
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| Palmoplantar cutis gyrata
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| Absent internal genitalia
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| Amyotrophy of ankle musculature
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| Segmental spinal muscular atrophy
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| Subcutaneous hemorrhage
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| Abnormality of the phalanges of the 4th toe
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| Age-dependent penetrance
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| Narrow nasal ridge
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| Abnormality of the nasal septum
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| Deviation of the 3rd toe
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