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| Aplasia/hypoplasia involving bones of the hand
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| High intestinal obstruction
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| Synostosis involving the tibia
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| Aplastic anemia
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| Renal amyloidosis
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| Abnormality of granulocytes
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| Abnormality of basophils
-
| Granulocytopenia
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| Triceps hypoplasia
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| Aplasia of the musculature
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| Flat sella turcica
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| Poorly ossified vertebrae
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| Abnormal emotion/affect behavior
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| Neoplasia of the penis
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| Hypoplastic areola
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| Abnormal fear/anxiety-related behavior
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| Superior mesenteric artery aneurysm
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| Celiac artery aneurysm
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| Osteoporotic forearm bones
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| Abnormality of long-chain fatty-acid metabolism
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| Ventricular aneurysm
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| Lumbar hyperlordosis
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| Hemivertebrae
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| Distal sensory impairment
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| Early progressive calcific cardiac valvular disease
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| Atrioventricular canal defect
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| Ventral hernia
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| Aldehyde oxidase deficiency
-
| Myocardial calcification
-
| Pulmonic valve myxoma
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| Bifid ureter
-
| Isothenuria
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| Struvite nephrolithiasis
-
| Diffuse glomerular basement membrane lamellation
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| Small finger
-
| Partial absence of foot
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| Small toe
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| Absent ray
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| Fused thoracic vertebrae
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| Enchondroma
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| Corneal perforation
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| Nasal polyposis
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| Megacalicosis
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| Barrett esophagus
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| Abnormality of the preputium
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| Aseptic leukocyturia
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| Teleangiectasia of the skin
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| Endocarditis
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| Urogenital fistula
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| Paraphimosis
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| Neoplasm of the eye
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| Stahl ear
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| Decreased amplitude of sensory action potentials
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| Thick corpus callosum
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| Extrapyramidal muscular rigidity
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| Epiretinal membrane
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| Abnormal cortical bone morphology
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| Osteoarthritis
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| Thin bony cortex
-
| Sparse bone trabeculae
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| Kyphoscoliosis
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| Delayed skeletal maturation
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| Recurrent fractures
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| Pathologic fracture
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| Osteomyelitis due to immunodeficiency
-
| Osteomyelitis
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| Stippled calcification proximal humeral epiphyses
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| Hypoplastic pelvis
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| Sperm mid-piece anomaly
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| Hypoplastic pubic rami
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| Slit-like opening of the exterior auditory meatus
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| Subperiosteal erosions due to secondary hyperparathyroidism
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| Multicentric femoral head ossification
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| Hypoplastic helices
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| Abnormal male germ cell morphology
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| Cow milk allergy
-
| Immunologic hypersensitivity
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| Scleroderma
-
| Juvenile aseptic necrosis
-
| Aplasia of the pyramidal tract
-
| Abnormality of the dentate nucleus
-
| Rosenthal fibres
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| Hypoplasia of the cochlea
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| Tarsometatarsal synostosis
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| Carpometacarpal synostosis
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| Mild neurosensory hearing impairment
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| Sperm tail anomaly
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| Acephalic spermatozoa
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| Cortical cataract
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| Underfolded superior helices
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| fusion of midcervical facet joints
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| Sclerotic vertebral endplates
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| Widening of cervical spinal canal
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| Increased vertebral height
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| Anterior wedging of T11
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| Proximal radio-ulnar synostosis
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| Nuclear cataract
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| Prominent scalp veins
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| Selective tooth agenesis
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| Diffuse axonal swelling
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