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| Protruding tongue
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| Broad uvula
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| Shortening of all phalanges of the toes
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| Absent cupid's bow
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| Underdeveloped nasolabial fold
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| Perioral hyperpigmentation
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| Everted upper lip vermilion
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| Tented upper lip vermilion
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| Upturned corners of mouth
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| U-Shaped upper lip vermilion
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| Open bite
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| Facial hemangioma
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| Anosmia
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| Facial asymmetry
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| Triangular face
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| Abnormality of the maxilla
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| Hypoplasia of the maxilla
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| Bird-like facies
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| Square face
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| Short philtrum
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| Triangular nasal tip
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| Pseudocoarctation of the aorta
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| Abnormality of the coronary sinus
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| Arterial dissection
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| Premature peripheral vascular disease
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| Atrioventricular canal defect with right ventricle aorta and pulmonary atresia
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| Down-sloping shoulders
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| Corneal erosion
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| Osteolytic defects of the proximal phalanx of the 3rd toe
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| Choroid plexus papilloma
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| Mandibular pain
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| Premature chromatid separation
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| Ocular pain
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| Vasculitis in the skin
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| Pretibial myxedema
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| Carpal bone hypoplasia
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| Specific learning disability
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| Photomyoclonic seizures
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| EEG with irregular generalized spike and wave complexes
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| Hypoglycemic coma
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| Muscle weakness
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| Congenital fibrosis of extraocular muscles
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| Brain very small
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| Cerebellar hypoplasia
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| Cerebellar vermis hypoplasia
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| Orchitis
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| Toenail dysplasia
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| Abnormally straight spine
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| Acantholysis
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| Hernia
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| Fingernail dysplasia
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| Neoplasm of the middle ear
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| Costochondral pain
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| Shuffling gait
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| Abnormality of brainstem morphology
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| Severe expressive language delay
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| Psychomotor deterioration
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| Widely spaced primary teeth
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| Visual hallucinations
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| Generalized microdontia
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| Midline central nervous system lipomas
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| Lattice corneal dystrophy
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| Lenticonus
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| Severe visual impairment
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| Epibulbar dermoid
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| Retinal exudate
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| Pigmentary retinal degeneration
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| Chorioretinopathy
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| Orbital cyst
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| Rough bone trabeculation
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| Advanced ossification of the humeral epiphysis
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| Absent humeral epiphyseal ossification
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| Abnormality of the humeral epiphysis
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| Prominent deltoid tuberosities
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| Irregular ossification of the humeral epiphyses
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| Irregular humeral epiphyses
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| Flattened humeral epiphyses
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| Delayed humeral epiphyseal ossification
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| Round humeral epiphyses
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| Large humeral epiphyses
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| Hyposerinemia
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| Abnormality of serine metabolism
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| Deviation of toes
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| Aplasia of the retina
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| Episodic fatigue
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| Fibular overgrowth
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| Limited hip extension
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| Trophic limb changes
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| Hypoplasia of the capital femoral epiphysis
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| Short femur
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| Septic arthritis
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| Testicular neoplasm
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| Cerebral white matter hypoplasia
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| Tethered cord
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| Frontotemporal dementia
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| Abnormality of the spinal cord
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| Ischemic stroke
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| Gait imbalance
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| Hypophosphatemia
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| Hyperuricemia
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