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| Aplasia of the 1st metacarpal
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| Short 1st metacarpal
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| Aplasia of the 2nd metacarpal
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| Aplasia/Hypoplasia of the 2nd metacarpal
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| Adrenocorticotropic hormone deficiency
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| Renal tubular lysine transport defect
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| 3-Methylglutaconic aciduria
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| Glucocortocoid-insensitive primary hyperaldosteronism
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| Secondary hyperaldosteronism
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| Ectopic adrenal gland
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| Adrenal gland agenesis
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| Secondary hypercorticolism
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| Non-secretory adrenocortical adenoma
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| Secretory adrenocortical adenoma
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| Abnormality of the anterior pituitary
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| Renal cortical microcysts
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| Sclerosis of middle toe phalanx
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| Nasolacrimal duct obstruction
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| Palate fistula
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| Bifid tongue
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| Ankyloglossia
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| Prominent palatine ridges
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| Short hard palate
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| Aplasia/Hypoplasia of the uvula
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| Absent uvula
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| Hypometric saccades
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| Abnormality of saccadic eye movements
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| Retinal hemorrhage
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| Visual loss
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| Scotoma
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| Thick eyebrow
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| Exotropia
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| Centrocecal scotoma
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| Uric acid nephrolithiasis
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| Hypertension
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| Sclerosis of proximal toe phalanx
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| Membranoproliferative glomerulonephritis
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| Corticospinal tract hypoplasia
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| Precocious puberty
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| Transient hypogammaglobulinemia of infancy
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| Recurrent Neisserial infections
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| Recurrent infections in infancy and early childhood
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| Impaired T cell function
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| Maxillozygomatic hypoplasia
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| Urethral obstruction
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| Metabolic acidosis
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| Knee clonus
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| Bracket epiphysis of the middle phalanx of the 5th toe
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| Decreased mobility 3rd-5th fingers
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| Proportionate shortening of all digits
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| Tubular metacarpal bones
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| Prominent proximal interphalangeal joints
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| Irregular metacarpals
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| Short metacarpals with rounded proximal ends
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| Soft tissue swelling of interphalangeal joints
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| Enlarged metacarpophalangeal joints
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| Exocrine pancreatic insufficiency
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| Abnormality of the nasopharynx
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| Progressive hearing impairment
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| Pointed proximal second through fifth metacarpals
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| Interphalangeal joint contracture of finger
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| Pancreatitis
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| Annular pancreas
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| Abnormality of the thenar eminence
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| Wrist swelling
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| Aplasia/Hypoplasia of the nipples
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| Childhood onset short-limb short stature
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| Spontaneous coronary artery dissection
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| Aplasia/Hypoplasia of the lungs
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| Abnormality of the coronary arteries
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| Abnormality of the atrioventricular valves
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| Cystic liver disease
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| Abnormality of the hepatic vasculature
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| Stippling of the epiphysis of the distal phalanx of the 5th toe
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| Chronic hepatitis due to cryptospridium infection
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| EEG with focal slow activity
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| Small epiphysis of the distal phalanx of the 5th toe
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| Partial duplication of the middle phalanx of the 3rd toe
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| Partial duplication of the distal phalanx of the 5th toe
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| Complete duplication of the proximal phalanx of the 5th toe
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| Complete duplication of the proximal phalanx of the 4th toe
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| Partial duplication of the distal phalanx of the 4th toe
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| Partial duplication of the distal phalanx of the 3rd toe
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| Complete duplication of the middle phalanx of the 4th toe
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| Complete duplication of the middle phalanx of the 3rd toe
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| Complete duplication of the proximal phalanx of the 3rd toe
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| Complete duplication of the middle phalanx of the 5th toe
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| Agnosia
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| Anarthria
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| Motor aphasia
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| Poor head control
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| Long-tract signs
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| Hypoplastic distal humeri
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| Amyolid cardiomyopathy
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| Iridescent posterior subcapsular cataract
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| Abnormal urine potassium concentration
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| Abnormal urine phosphate concentration
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| Oromandibular dystonia
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| Laryngeal dystonia
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| Multiple carpal ossification centers
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