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| Screwdriver-shaped incisors
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| Microdontia of primary teeth
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| Agenesis of permanent teeth
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| Cervical myelopathy
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| Anterior rib punctate calcifications
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| Nephrogenic rest
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| Reduced natural killer cell activity
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| Craniofacial dystonia
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| C2-C3 subluxation
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| Caudal interpedicular narrowing
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| Vitamin B6 deficiency
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| Index finger dermatoglyphic radial loop
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| Multiple cafe-au-lait spots
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| Microscopic nephrocalcinosis
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| Radial head subluxation
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| Ulnar deviation of the wrist
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| Telangiectases in sun-exposed and nonexposed skin
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| Unusual dermatoglyphics
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| Shoulder flexion contracture
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| Abnormality of the patella
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| Arthropathy
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| Humeroradial synostosis
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| Elbow dislocation
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| Abnormality of the shoulder
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| Abnormal mitochondrial morphology
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| Abnormal rod and cone electroretinograms
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| Argininuria
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| Sudanophilic leukodystrophy
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| Progressive congenital scoliosis
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| Hydroxyprolinemia
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| Increased IgA level
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| Smooth muscle antibody positivity
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| Cervical vertebral agenesis
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| Deficiency of N-acetylglucosamine-1-phosphotransferase
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| Neonatal hyperbilirubinemia
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| Reduced orotidine 5-prime phosphate decarboxylase activity
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| Cerebral cortical neurodegeneration
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| Acute necrotizing encephalopathy
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| Choroid plexus calcification
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| Jerky head movements
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| Gait instability, worse in the dark
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| Abnormal muscle glycogen content
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| T-wave alternans
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| Absent respiratory ciliary axoneme radial spokes
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| Absent central microtubular pair morphology of respiratory motile cilia
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| Ciliary dyskinesia
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| Abnormal ciliary motility
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| Immotile cilia
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| Abnormal central microtubular pair morphology of respiratory motile cilia
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| Abnormal respiratory motile cilium physiology
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| Bilateral sensorineural hearing impairment
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| Adult onset sensorineural hearing impairment
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| Infantile sensorineural hearing impairment
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| Skin adnexal neoplasm
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| Cochlear aplasia
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| Proximal
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| Retinal vascular tortuosity
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| Multiple trichilemmomata
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| Epilepsia partialis continua
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| Trichilemmoma
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| Incomplete partition of the cochlea type I
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| Small intestinal stenosis
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| Trident hand
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| Laterally deviated thumb phalanges
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| Morphological abnormality of the vestibule of the inner ear
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| Recurrent viral skin infections
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| Recurrent cutaneous fungal infections
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| Nasal regurgitation
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| Facial tics
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| Incomplete partition of the cochlea
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| Fetal onset
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| Embryonal onset
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| Childhood onset
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| Aplasia of the inner ear
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| Duodenal aganglionosis
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| Aganglionosis of the small intestine
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| Absent gallbladder
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| Aplasia/Hypoplasia of the gallbladder
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| Osteopoikilosis
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| Nodular changes affecting the eyelids
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| Recurrent Burkholderia cepacia infections
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| Double eyebrow
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| Extension of eyebrows towards upper eyelid
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| Monostotic fibrous dysplasia
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| Fibrous dysplasia of the bones
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| Polyostotic fibrous dysplasia
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| Pectus carinatum
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| Abnormality of the breast
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| Abnormality of the endocrine system
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| Diabetes mellitus
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| Abnormality of Krebs cycle metabolism
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| Abnormality of the thorax
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| Abnormality of the sternum
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| Hypergonadotropic hypogonadism
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| Abnormal internal genitalia
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| Bicornuate uterus
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| Decreased nerve conduction velocity
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| Abnormal external genitalia
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| Irregular articular surfaces of the elbow joints
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| Stippling of the epiphysis of the distal phalanx of the 4th finger
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