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| Infantile onset
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| Middle age onset
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| Aplasia of the optic tract
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| Cavum septum pellucidum
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| Cerebral hypomyelination
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| Fasciculations
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| Aphasia
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| Encephalitis
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| Focal seizures with impairment of consciousness or awareness
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| Paraparesis
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| Hyperactive deep tendon reflexes
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| Abnormal palmar dermal ridges
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| Hypoproteinemic edema
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| Complex palmar dermatoglyphic pattern
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| Freckles in sun-exposed areas
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| Midline facial capillary hemangioma
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| Multiple cutaneous malignancies
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| Hypohidrotic ectodermal dysplasia
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| Excessive wrinkling of palmar skin
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| Epiphyseal dysplasia
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| Spondylometaphyseal dysplasia
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| Polymicrogyria
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| Upper motor neuron abnormality
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| Cerebral cortical atrophy
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| Absence seizures
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| Scoliosis
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| Generalized myoclonic seizures
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| Increased susceptibility to fractures
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| Onion bulb formation
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| Hypertrophic nerve changes
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| Laterally deficient tibial plateaux
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| Decreased number of peripheral myelinated nerve fibers
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| Decreased number of large peripheral myelinated nerve fibers
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| Shoulder dislocation
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| Soft-tissue ossification around the shoulders
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| Peripheral axonal atrophy
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| Abnormality involving the epiphyses of the upper limbs
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| Fragmentation of the epiphyses of the 2nd toe
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| Easy fatigability
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| Stress urinary incontinence
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| Non-obstructive azoospermia
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| Obstructive azoospermia
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| Pretesticular azoospermia
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| Intermittent painful muscle spasms
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| Abnormality of citrulline metabolism
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| Elevated plasma citrulline
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| Hypocupremia
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| Feeding difficulties
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| Elevated luteinizing hormone
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| Severe combined immunodeficiency
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| Complement deficiency
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| Agammaglobulinemia
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| Secretory IgA deficiency
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| C8 deficiency
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| Cranial hyperostosis
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| Hyperostosis frontalis interna
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| Craniofacial dysostosis
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| Cherry red spot of the macula
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| Aplasia/Hypoplasia involving the femoral head and neck
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| Sclerosis of the middle phalanx of the 5th finger
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| Abnormality of the common coagulation pathway
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| Hyperprostaglandinuria
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| Orotic acid crystalluria
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| Decreased methionine synthase activity
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| Retinal calcification
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| Retinal lesions
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| Disproportionate short-trunk short stature
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| Parathormone-independent increased renal tubular calcium reabsorption
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| Elevated calcitonin
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| Flexion contracture of thumb
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| Aplasia/Hypoplasia of the thumb
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| Abnormality of thumb phalanx
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| Deviation of the thumb
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| Complete duplication of distal phalanx of the thumb
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| Complete duplication of proximal phalanx of the thumb
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| Duplication of the 1st metacarpal
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| Microcolon
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| Intestinal pseudo-obstruction
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| Gastrointestinal inflammation
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| Enterocolitis
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| Type I truncus arteriosus
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| Protracted diarrhea
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| Mitral valve calcification
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| Hypoplastic left heart
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| Aortic valve calcification
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| Supravalvular aortic stenosis
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| Lipedema
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| Sclerosis of the middle phalanx of the 3rd finger
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| Single naris
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| Narrow naris
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| Asymmetry of the nares
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| Enlarged naris
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| Narrow nasal septum
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| Facial hirsutism
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| Supernumerary naris
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| Aplasia/Hypoplasia of the nasal septum
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| Sunken cheeks
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| Mandibular aplasia
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| Spinalarachnoid cyst
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| Chalazion
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