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| Abnormality of the cementum
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| Short iliac bones
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| Duodenal stenosis
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| Abnormality of the lumbar spine
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| Vertebral body sclerosis
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| Impulsivity
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| Abnormality of the thoracic spine
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| Abnormality of the toenail
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| Abnormal hand morphology
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| Abnormality of phalanx of finger
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| Rhomboid or triangular shaped 5th finger middle phalanx
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| Biliary atresia
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| Abnormality of metacarpal epiphyses
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| Aplasia/Hypoplasia involving the metacarpal bones
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| Abnormal metacarpal morphology
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| Supernumerary metacarpal bones
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| Abnormal rapid eye movement (REM) sleep
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| Impaired vibratory sensation
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| Spastic ataxia
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| Increased CSF lactate
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| Spasticity of facial muscles
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| Abnormality of the corticospinal tract
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| Corticospinal tract dysfunction
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| Bulging epiphyses
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| Chronic lymphocytic meningitis
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| Abnormality of the musculature
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| Prolonged bleeding time
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| Metaphyseal widening
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| Flared metaphyses
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| Atrophy of the dentate nucleus
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| Large basal ganglia
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| Abnormality of the wrist
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| Lack of subcutaneous fatty tissue
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| Impaired vibration sensation at ankles
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| Transient psychotic episodes
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| Lipoma of corpus callosum
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| Frontoparietal cortical dysplasia
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| Impaired distal tactile sensation
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| Irregular epiphysis of the middle phalanx of the 4th toe
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| Congenital nystagmus
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| Recurrent abscess formation
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| Absence of bactericidal oxidative 'respiratory burst' in phagocytes
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| IgA deficiency
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| Immunodeficiency
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| Recurrent Staphylococcus aureus infections
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| Recurrent Aspergillus infections
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| Systemic lupus erythematosus
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| Chronic mucocutaneous candidiasis
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| Follicular hyperplasia
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| Abnormal glucose tolerance
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| Nephroblastomatosis
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| Failure to thrive secondary to recurrent infections
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| Elevated pulmonary artery pressure
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| Recurrent infections due to aspiration
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| Pubertal developmental failure in females
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| Stress/infection-induced lactic acidosis
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| Laryngotracheal stenosis
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| Pointed frontal hairline
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| Toe syndactyly
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| Persistent lactic acidosis
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| Anteriorly displaced urethral meatus
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| Congenital, generalized hypertrichosis
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| Achilles tendon contracture
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| Talipes equinovalgus
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| Transient hearing impairment
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| Abnormality of hand joint mobility
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| Pseudobulbar signs
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| Respiratory paralysis
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| Lymphoid interstitial pneumonia
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| Progressive pulmonary function impairment
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| Pulmonary lymphangiectasia
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| Sparse anterior scalp hair
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| Wide nasal base
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| Unilateral breast hypoplasia
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| Macrodactyly
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| Hypoplastic female external genitalia
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| Repeated pneumothoraces
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| Noncompaction cardiomyopathy
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| Right ventricular noncompaction cardiomyopathy
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| Congenital septal defect
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| Post-angioplasty coronary artery restenosis
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| Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis
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| Paroxysmal supraventricular tachycardia
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| Myxomatous mitral valve degeneration
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| Deviation of finger
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| Aplasia/Hypoplasia of the tragus
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| Curved fingers
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| Long ear
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| Dermatochalasis
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| Primary hyperparathyroidism
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| Aplasia/Hypoplasia of the mandible
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| Aplasia/Hypoplasia of the frontal sinuses
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| Abnormality of B cell number
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| Aplasia/hypoplasia involving the skeleton
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| Aplasia/Hypoplasia involving bones of the skull
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| Aplasia/Hypoplasia of the maxilla
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| Diaphragmatic eventration
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| Cleft mandible
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| Absent left hemidiaphragm
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| Diaphragmatic weakness
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