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| Carnosinuria
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| Increased urinary taurine
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| Elevated circulating parathyroid hormone (PTH) level
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| Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency
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| Elevated urinary delta-aminolevulinic acid
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| Acute demyelinating polyneuropathy
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| 4-Hydroxyphenylpyruvic aciduria
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| Abnormal isoelectric focusing of serum transferrin
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| Cheekbone prominence
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| Palmar hyperhidrosis
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| 1-5 finger complete cutaneous syndactyly
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| Thin metacarpal cortices
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| Focal seizures
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| Ovoid thoracolumbar vertebrae
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| Cervical subluxation
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| Abnormal enzyme/coenzyme activity
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| Hyperreflexia in upper limbs
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| Spondylolisthesis
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| Cerebellar calcifications
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| Ovoid vertebral bodies
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| Amyotrophic lateral sclerosis
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| Spinal rigidity
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| Block vertebrae
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| Spondylolysis
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| Intellectual disability, progressive
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| Impaired distal vibration sensation
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| Severe hydrocephalus
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| Diffuse peripheral demyelination
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| Cerebellar hemangioblastoma
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| Microprolactinoma
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| Pituitary thyrotropic cell adenoma
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| Decreased serum ferritin
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| Macroprolactinoma
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| Abnormal glycosylation
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| Morphea
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| Intellectual disability, borderline
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| Meningoencephalocele
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| Hyperapobetalipoproteinemia
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| Mucopolysacchariduria
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| Periodic hypokalemic paresis
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| Prolonged prothrombin time
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| Elevated serum transaminases during infections
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| Broad phalanges of the 3rd toe
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| Underdeveloped supraorbital ridges
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| Sclerosis of the proximal phalanx of the hallux
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| Puberty and gonadal disorders
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| Abnormality of vitamin A metabolism
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| Abnormal metatarsal ossification
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| Nasal, dysarthic speech
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| Abnormality of the endocardium
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| Abnormal anatomic location of the heart
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| Involuntary movements
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| Functional motor problems.
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| Abnormality of muscle fibers
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| Cervical vertebral bodies with decreased anteroposterior diameter
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| Asymmetry of spinal facet joints
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| Spondylolisthesis at L5-S1
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| Anterior rounding of vertebral bodies
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| Ventricular arrhythmia
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| Ventricular preexcitation
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| Abnormal tendon morphology
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| Cone-shaped epiphysis of the thumb
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| Enlarged thumb epiphysis
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| Irregular epiphysis of the distal phalanx of the thumb
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| Ivory epiphysis of the distal phalanx of the thumb
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| Pseudoepiphysis of the distal phalanx of the thumb
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| Small epiphysis of the distal phalanx of the thumb
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| Stippling of the epiphysis of the distal phalanx of the thumb
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| Triangular epiphysis of the distal phalanx of the thumb
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| Absent epiphyses of the thumb
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| Bracket epiphyses of the thumb
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| Triangular epiphysis of the proximal phalanx of the 3rd finger
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| Abnormality of the distal phalanx of the 3rd finger
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| Small epiphysis of the proximal phalanx of the 3rd finger
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| Stippling of the epiphysis of the proximal phalanx of the 3rd finger
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| Ivory epiphysis of the proximal phalanx of the 3rd finger
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| Pseudoepiphysis of the proximal phalanx of the 3rd finger
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| Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger
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| Irregular epiphysis of the proximal phalanx of the 3rd finger
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| Curved distal phalanx of the 3rd finger
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| Aplasia of the distal phalanx of the 3rd finger
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| Abnormality of the proximal phalanx of the 3rd finger
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| Duplication of the 1st metatarsal
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| Triangular shaped 1st metatarsal
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| Broad distal phalanx of the hallux
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| Aplasia/Hypoplasia of the distal phalanx of the hallux
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| Osteolytic defects of the 1st metatarsal
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| Curved 1st metatarsal
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| Synostosis involving the 1st metatarsal
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| Patchy sclerosis of the 1st metatarsal
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| Curved distal phalanx of the hallux
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| Bullet-shaped distal phalanx of the hallux
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| Sick sinus syndrome
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| Optic nerve dysplasia
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| Second degree atrioventricular block
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| Mobitz I atrioventricular block
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| Automatic atrial tachycardia
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| Multifocal atrial tachycardia
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| Abnormal electrophysiology of sinoatrial node origin
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| Sinus tachycardia
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