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| Perifascicular muscle fiber atrophy
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| Focal lissencephaly
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| Interosseus muscle atrophy
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| Amyloidosis of peripheral nerves
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| Focal T2 hyperintense basal ganglia lesion
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| Peripheral hypomyelination
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| Bracket epiphyses of the 2nd finger
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| Hyperthreoninemia
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| Aminoaciduria
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| Progressive visual field defects
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| Thymic hormone decreased
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| Concentric narrowing of visual fields
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| Decreased circulating renin level
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| Endopolyploidy on chromosome studies of bone marrow
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| Propionyl-CoA carboxylase deficiency
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| Elevated intracellular cystine
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| Decreased urinary sulfate
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| Foam cells with lamellar inclusion bodies
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| Occipital neuralgia
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| Long umbilical cord
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| Monocytopenia
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| Complete duplication of the proximal phalanx of the 2nd finger
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| Abnormal monocyte count
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| Monocytosis
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| Fibrous tissue neoplasm
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| Sacroiliac arthritis
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| Bouchard's node
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| Partial duplication of the proximal phalanx of the 2nd finger
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| Abdominal aortic aneurysm
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| Pulmonary arteriovenous fistulas
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| Peripheral arterial disease
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| Neck muscle hypoplasia
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| Increased intramuscular fat
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| Generalized arterial tortuosity
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| Descending aortic aneurysm
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| Pelvic girdle muscle atrophy
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| Dilatation of the descending thoracic aorta
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| Complete duplication of the phalanges of the 2nd finger
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| Olfactory lobe agenesis
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| EMG
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| Enhancement of the C-reflex
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| Kernicterus
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| Osteolytic defects of the proximal phalanges of the hand
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| Curved proximal phalanges of the hand
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| Symphalangism affecting the proximal phalanges of the hand
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| Patchy sclerosis of proximal phalanx of finger
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| Aplasia/Hypoplasia of the proximal phalanges of the hand
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| Tarsal osteovalgus
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| Bullet-shaped proximal phalanges of the hand
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| Broad proximal phalanges of the hand
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| Hepatosplenomegaly
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| Triangular shaped proximal phalanges of the hand
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| Thyroid dysgenesis
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| Insulin insensitivity
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| Glioblastoma multiforme
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| Resistance to activated protein C
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| Stereotypical body rocking
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| Recurrent opportunistic infections
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| Nail-biting
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| Stereotypical hand wringing
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| Mildly elevated creatine phosphokinase
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| Abetalipoproteinemia
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| Adrenocortical hypoplasia
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| Precocious puberty in males
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| Adrenocortical cytomegaly
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| Absence of secondary sex characteristics
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| Hematological neoplasm
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| Neuroblastic tumors
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| Neoplasm of the nervous system
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| Hemiplegia/hemiparesis
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| Focal dystonia
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| Reduced consciousness/confusion
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| Abnormality of glycosaminoglycan metabolism
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| Abnormality of temperature regulation
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| Abnormality of alkaline phosphatase activity
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| Abnormality of the anus
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| Abnormality of phytanic acid metabolism
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| Curved proximal phalanx of the 2nd finger
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| Bullet-shaped proximal phalanx of the 2nd finger
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| Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal
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| Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
-
| Triangular shaped proximal phalanx of the 2nd finger
-
| Symphalangism affecting the proximal phalanx of the 2nd finger
-
| Patchy sclerosis of the proximal phalanx of the 2nd finger
-
| Osteolytic defects of the proximal phalanx of the 2nd finger
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| Bilateral vestibular Schwannoma
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| Vestibular Schwannoma
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| Dilated vestibule of the inner ear
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| Hypoplasia of the vestibule of the inner ear
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| Molarization of premolar
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| Spastic hemiplegia
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| Obtundation status
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| Myoclonic absences
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| Focal motor seizures
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| Early onset absence seizures
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| Focal autonomic seizures with altered responsiveness
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| Focal autonomic seizures
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| Auras
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| Focal autonomic seizures without altered responsiveness
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| Epigastric auras
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