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| Curved 4th toe phalanx
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| Osteolytic defects of the phalanges of the 4th toe
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| Triangular shaped phalanges of the 4th toe
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| Duplication of phalanx of the 4th toe
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| Ectopic ossification in ligament tissue
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| Hypoplasia of the frontal lobes
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| Delayed femoral head ossification
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| Weakness of long finger extensor muscles
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| Progressive proximal muscle weakness
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| Decreased Achilles reflex
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| Inflammatory myopathy
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| Absent epiphyses of the 5th toe
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| Hypermetric saccades
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| Thickened ribs
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| Rib fusion
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| Flaring of rib cage
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| Progressive clavicular acroosteolysis
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| Anterior rib cupping
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| Coronary sinus diverticulum
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| Triangular epiphyses of the 4th toe
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| Hypoplasia of the phalanges of the toes
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| Cellular immunodeficiency
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| Partial cellular immunodeficiency
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| Recurrent Haemophilus influenzae infections
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| Abnormality of B cell physiology
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| Severe T lymphocytopenia
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| Abnormal humeral ossification
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| Lacrimation abnormality
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| Decreased lacrimation
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| Abnormality of retinal arteries
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| Retinal arterial tortuosity
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| Upper eyelid coloboma
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| Long palpebral fissure
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| Impaired ocular abduction
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| Blue irides
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| Juxtaductal coarctation of the aorta
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| Nystagmus
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| Acute hepatic steatosis
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| Subacute progressive viral hepatitis
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| Reduced number of intrahepatic bile ducts
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| Meningioma
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| Rhabdomyosarcoma
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| Intrahepatic cholestasis with episodic jaundice
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| Hepatic arteriovenous malformation
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| Prolonged neonatal jaundice
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| Genu valgum
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| IgM deficiency
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| Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors
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| Increased proportion of HLA DR+ and CD57+ T cells
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| Decreased activity of cytochrome C oxidase in muscle tissue
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| Lateral displacement of patellae
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| Medial calcification of small arteries
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| Multiple mitochondrial DNA deletions
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| Increased density of long bones
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| Overtubulated long bones
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| Anterior tibial bowing
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| Acute constipation
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| Chronic constipation
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| Bilateral wrist flexion contracture
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| Restless legs
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| Large artery calcification
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| Unilateral wrist flexion contracture
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| Medial calcification of medium-sized arteries
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| Flat distal femoral epiphysis
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| Hyperphosphaturia
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| Hyperglycinuria
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| Flat face
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| Mandibular condyle hypoplasia
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| Progressive extrapyramidal muscular rigidity
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| Fluctuations in consciousness
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| Asymmetric limb muscle stiffness
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| Slender long bone
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| Mandibular osteomyelitis
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| Mandibular condyle aplasia
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| Cutaneous leiomyoma
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| Telangiectasia of extensor surfaces
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| Abnormality of cholesterol metabolism
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| Pigmentation anomalies of sun-exposed skin
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| Abnormality of thyroid morphology
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| Ectopic lacrimal punctum
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| Sleep disturbance
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| Abnormality of the sella turcica
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| Basal cell carcinoma
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| Gastrointestinal carcinoma
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| Coxa valga
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| Cloverleaf skull
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| Small foramen magnum
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| Equinus calcaneus
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| Dilatated internal auditory canal
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| Exostosis of the external auditory canal
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| Tarsal stippling
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| Overfolding of the superior helices
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| Distal tapering of metatarsals
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| Postauricular skin tag
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| Irregular tarsal ossification
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| Abnormal middle ear reflexes
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| Death in childhood
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| Shyness
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| Phenotypic variability
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| Neonatal death
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