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| Lacticaciduria
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| Abnormality of glycoside metabolism
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| Abnormality of the subungual region
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| Dental enamel pits
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| Shagreen patch
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| Adenoma sebaceum
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| Achromatic retinal patches
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| Renal neoplasm
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| Bladder neoplasm
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| Subungual fibromas
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| Prominent crus of helix
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| Underdeveloped crus of the helix
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| Cardiac rhabdomyoma
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| Neoplasm of striated muscle
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| Hypermobility of interphalangeal joints
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| Subluxation of the small joints of the hand
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| Osteoarthritis of the small joints of the hand
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| Galactose intolerance
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| hyperchloremic metabolic acidosis
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| Wide hamate bone
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| Large hamate bone
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| Large capitate bone
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| Recurrent infantile hypoglycemia
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| Intermittent lactic acidemia
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| Hypophosphatemic rickets
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| Episodic metabolic acidosis
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| Type D brachydactyly
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| Broad distal phalanx of the 4th toe
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| Median cleft palate
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| Chronic oral candidiasis
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| Facial diplegic appearance
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| Progressive alveolar ridge hypertropy
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| Cleft lower alveolar ridge
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| Erythroid hyperplasia
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| Erythroid hypoplasia
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| Abnormality of cells of the erythroid lineage
-
| Abnormal number of erythroid precursors
-
| Dysplastic granulopoesis
-
| Abnormal number of granulocyte precursors
-
| Dysplastic erythropoesis
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| Abnormality of cells of the granulocytic lineage
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| Granulocytic hyperplasia
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| Granulocytic hypoplasia
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| Short 3rd finger
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| Broad proximal phalanx of the 5th toe
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| Myxoid liposarcoma
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| High forehead
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| Widow's peak
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| Whistling appearance
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| Micrognathia
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| Long philtrum
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| Sloping forehead
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| Narrow forehead
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| Abnormality of the nasal dorsum
-
| Abnormality of tumor necrosis factor secretion
-
| Reduced maximal inspiratory pressure
-
| Abnormality of chemokine secretion
-
| Defective production of NFKB1-dependent cytokines
-
| Abnormality of interleukin secretion
-
| Abnormality of interferon secretion
-
| Abnormality of immune serum protein physiology
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| Tonsillitis
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| Abnormality of cytokine secretion
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| Abnormality of serum cytokine level
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| Impacted tooth
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| Subungual hyperkeratotic fragments
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| Six lumbar vertebrae
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| Vertebral hypoplasia
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| Lumbar kyphosis in infancy
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| Squared-off platyspondyly
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| Intervertebral disc degeneration
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| Severe limb shortening
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| Limb tremor
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| Giant cell hepatitis
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| Involuntary writhing movements
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| Panniculitis
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| Middle cerebral artery stenosis
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| Bracket epiphyses
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| Cone-shaped epiphysis
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| Abnormal muscle fiber calpain-3
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| Low maternal serum alpha-fetoprotein
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| Elevated levels of phytanic acid
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| Abnormality of the epiphysis of the femoral head
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| Dysplasia of the femoral head
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| Intracranial cystic lesion
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| Absent epiphyses
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| Acute pancreatitis
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| Facial diplegia
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| Brisk reflexes
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| Abnormality of the abdomen
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| Susceptibility to coronavirus 229e
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| Exaggerated cellular immune processes
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| Abnormality of the shoulder girdle musculature
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| Cerebral hemorrhage
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| Psychotic mentation
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| Absent speech
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| Hyperreflexia
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| Abnormality of the calf musculature
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| Abnormal muscle fiber dysferlin
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| Bronchogenic cyst
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