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| Functional respiratory abnormality
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| Decreased serum complement factor B
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| Abnormal pattern of respiration
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| Reduced vital capacity
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| Hypoventilation
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| Neonatal breathing dysregulation
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| Aplasia/Hypoplasia of the distal phalanx of the 3rd toe
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| Short phalanx of the 5th toe
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| Aplasia of the phalanges of the 4th toe
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| Aplasia of the phalanges of the 3rd toe
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| Decreased testosterone in males
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| Contractures of the joints of the upper limbs
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| Short phalanx of the 4th toe
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| Short phalanx of the 3rd toe
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| Aplasia of the phalanges of the 5th toe
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| Agenesis of mandibular incisor
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| Abnormal urinary color
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| Abnormal mitochondrial shape
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| Abnormality of skeletal muscle fiber size
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| Pyuria
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| Cerebellar Purkinje layer atrophy
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| Ubiquitin-positive cerebral inclusion bodies
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| Cerebellar granular layer atrophy
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| Refractory anemia with ringed sideroblasts
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| Folate-unresponsive megaloblastic anemia
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| Increased hemoglobin oxygen affinity
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| Sacral hypertrichosis
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| Anterior cervical hypertrichosis
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| Atypical elliptocytosis
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| Hypersegmentation of neutrophil nuclei
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| Acute myelomonocytic leukemia
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| Decreased sensory nerve conduction velocity
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| Cold-induced muscle cramps
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| Horizontal sacrum
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| Decreased size of nerve terminals
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| EMG
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| EMG
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| Axonal loss
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| Broad middle phalanx of the 5th finger
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| Bullet-shaped middle phalanx of the 5th finger
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| Abnormality of the metencephalon
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| Abnormality of hindbrain morphology
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| Long-segment aganglionic megacolon
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| Short-segment aganglionic megacolon
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| EEG with occipital sharp slow waves
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| Total colonic aganglionosis
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| Aplasia/Hypoplasia of the middle phalanx of the 5th finger
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| Absent epiphysis of the proximal phalanx of the 5th finger
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| Abnormal form of the 5th finger
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| Absent middle phalanx of 5th finger
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| Stippling of the epiphysis of the distal phalanx of the 5th finger
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| Abnormal calcification of the carpal bones
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| Irregular epiphysis of the distal phalanx of the 5th finger
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| Fragmentation of the epiphysis of the distal phalanx of the 5th finger
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| Parietal hypometabolism in FDG PET
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| Mildly reduced ejection fraction
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| Thalamic hypometabolism in FDG PET
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| Hypothalamic hypometabolism in FDG PET
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| Severely reduced ejection fraction
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| Regional left ventricular wall motion abnormality
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| Reduced ejection fraction
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| Moderately reduced ejection fraction
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| Hemorrhagic ovarian cyst
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| Ovarian serous cystadenoma
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| Vasovagal syncope
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| Carotid sinus syncope
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| Hyperplastic labia majora
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| Fallopian tube cyst
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| Abnormality of the labia minora
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| Abnormality of the labia majora
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| Hamartomatous stomach polyps
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| Malrotation of small bowel
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| Multiple small bowel atresias
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| Gastrointestinal obstruction
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| Esophageal ulceration
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| Hypoplasia of the small intestine
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| Rectoperineal fistula
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| Jejunoileal diverticula
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| Recurrent infection of the gastrointestinal tract
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| Hydrocephalus
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| Large fontanelles
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| Abnormality of the anterior fontanelle
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| Small anterior fontanelle
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| Abnormality of the head
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| Abnormality of the fontanelles or cranial sutures
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| Everted lower lip vermilion
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| Thin vermilion border
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| Gingivitis
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| Increased number of teeth
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| Odontoma
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| Conical incisor
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| Abnormal number of incisors
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| Mesiodens
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| Abnormality of dental structure
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| Dentinogenesis imperfecta limited to primary teeth
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| Abnormality of incisor morphology
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| Misalignment of incisors
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| Prominent prostate median bar
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| Coronal hypospadias
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| Longitudinal vaginal septum
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