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| Stridor
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| Short thorax
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| Absence of the sacrum
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| Spinal meningeal diverticulum
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| Neoplasm of head and neck
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| Facial neoplasm
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| Generalized weakness of limb muscles
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| Darwin tubercle of helix
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| Exercise-induced muscle fatigue
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| Abdominal wall muscle weakness
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| Urethrovaginal fistula
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| Increased connective tissue
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| Hypoplasia of latissimus dorsi muscle
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| Foot dorsiflexor weakness
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| Impaired proprioception
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| Osteoporosis
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| Osteopenia
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| Prelingual sensorineural hearing impairment
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| Abnormality of the nasal alae
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| Prominent antihelix
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| Elevated imprint of the transverse sinuses
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| Posterior fossa cyst at the fourth ventricle
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| Overfolded helix
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| Thickened helices
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| Abnormality of the nasal bridge
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| Epistaxis
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| Short nasal septum
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| Medullary thyroid carcinoma
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| Paraganglioma of head and neck
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| Abnormality of the ilium
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| Hypoplastic iliac wings
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| Melanoma
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| Squamous cell carcinoma
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| Myelodysplasia
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| Bladder carcinoma
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| Flared iliac wings
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| Narrow iliac wings
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| Hypoplasia of the epiglottis
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| Inspiratory stridor
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| Thoracolumbar kyphosis
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| Abnormality of the vena cava
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| Abnormality of the carotid arteries
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| Cartilaginous trachea
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| Abnormal facial expression
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| Autonomic bladder dysfunction
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| Spastic/hyperactive bladder
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| Hypoplasia of the bladder
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| Episodic quadriplegia
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| Respiratory insufficiency due to defective ciliary clearance
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| Abnormality of vision evoked potentials
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| Optic atrophy
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| Blepharospasm
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| Red-green dyschromatopsia
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| Dysmetric saccades
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| Gaze-evoked nystagmus
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| Sclerocornea
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| Amblyopia
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| EEG with parietal sharp waves
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| Lumbar kyphosis
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| EEG with central sharp waves
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| Abnormality of the heme biosynthetic pathway
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| Dysplastic sacrum
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| Degeneration of anterior horn cells
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| EEG with polyspike wave complexes
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| Severe neonatal hypotonia in males
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| Spinal arteriovenous malformation
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| Cogwheel rigidity
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| Lower limb hyperreflexia
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| Wafer-thin platyspondyly
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| Xanthelasma
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| Posterior polar cataract
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| Macular coloboma
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| Sudden central visual loss
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| Leber optic atrophy
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| Early cataracts
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| Juvenile cataract
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| Keratoglobus
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| Fine, reticulate skin pigmentation
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| Nevus flammeus nuchae
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| Blotching pigmentation of the skin
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| Spinous keratoses of palms and soles
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| Congenital kyphoscoliosis
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| Subcutaneous calcification
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| Peripheral thrombosis
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| Broad-based gait
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| Basal ganglia calcification
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| Abnormality of the basal ganglia
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| Status epilepticus
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| Porencephaly
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| Episodic ataxia
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| Abnormality of calvarial morphology
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| Arrhinencephaly
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| Subarachnoid hemorrhage
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| Posterior vertebral hypoplasia
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| Enlarged epiphyses of the 3rd toe
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| Absent epiphyses of the 3rd toe
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| Triangular epiphyses of the 2nd toe
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| Cone-shaped epiphyses of the 3rd toe
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| Bracket epiphyses of the 3rd toe
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| Pseudoepiphyses of the 2nd toe
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