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| Peripheral retinal pigmentation abnormalities
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| Aplasia/hypoplasia of the proximal phalanx of the 3rd toe
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| Abnormality of central somatosensory evoked potentials
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| Aplasia of the tarsal bones
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| Metatarsus valgus
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| Limitation of movement at ankles
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| Increased length of the tibia
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| Foot asymmetry
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| Abnormal plantar dermatoglyphics
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| Limitation of knee mobility
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| Hyperextensibility of the knee
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| Fibular duplication
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| Fibular bowing
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| Ophthalmoparesis
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| Shallow anterior chamber
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| Abnormality of the anterior chamber
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| Blue sclerae
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| Abnormality of the sclera
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| Progressive external ophthalmoplegia
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| Abnormality of the frontal hairline
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| Abnormality of the ear
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| Diaphyseal sclerosis of the upper limbs
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| Somatic mutation
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| Plagiocephaly
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| Multifactorial inheritance
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| Mitochondrial inheritance
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| Abnormality of the musculature of the hand
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| Slurred speech
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| X-linked dominant inheritance
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| Abnormality of the humeroulnar joint
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| Abnormality of the humeroradial joint
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| Macrodactyly of toe
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| Macrodactyly of finger
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| Neoplasm of the rectum
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| Vascular neoplasm
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| Chest pain
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| Muscular edema
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| Sacroiliac joint synovitis
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| Decreased sensitivity to hypoxemia
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| Ventilator dependence with inability to wean
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| Laryngeal obstruction
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| Bilateral lung agenesis
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| Respiratory arrest
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| Desquamative interstitial pneumonitis
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| Intermittent hyperpnea at rest
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| High iliac wings
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| Apneic episodes in infancy
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| Cystic lung disease
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| Neoplasm of the thymus
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| Oliguria
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| Liver abscess
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| Thymoma
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| Urachus fistula
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| Limb duplication
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| Neoplasia of the pleura
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| Neoplasm of the lung
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| Abnormality of phosphate homeostasis
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| Pleuropulmonary blastoma
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| Abnormality of the caudate nucleus
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| Patellar dislocation
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| Forearm reduction defects
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| Irregular patellae
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| Adductor longus contractures
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| Crumpled long bones
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| Abnormality of the ulna
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| Limited elbow movement
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| Abnormality of the fibula
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| Fibular aplasia
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| Irregular femoral epiphyses
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| Unilateral cryptorchidism
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| Mesomelic short stature
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| Madelung-like forearm deformities
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| Desquamation of skin soon after birth
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| Palmoplantar keratosis with erythema and scale
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| Attention deficit hyperactivity disorder
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| Congenital palmoplantar keratosis
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| Piebaldism
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| Poor gross motor coordination
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| Linear hyperpigmentation
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| Frontal cutaneous lipoma
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| Madelung deformity
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| Fourth cranial nerve palsy
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| Poor fine motor coordination
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| Abnormality of the glabella
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| Dysgenesis of the cerebellar vermis
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| Delayed gross motor development
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| Generalized seizures
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| Myelopathy
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| Progressive spasticity
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| Choroid plexus cyst
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| Pseudobulbar behavioral symptoms
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| Abdominal obesity
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| Hypocalcemic seizures
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| Dilated fourth ventricle
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| Thin fingernail
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| Increased circulating cortisol level
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| Abnormality of lipid metabolism
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| Diffuse spongiform leukoencephalopathy
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| Recurrent meningitis
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| Abolished vibration sense
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