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| Abnormality of bone marrow cell morphology
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| Imbalanced hemoglobin synthesis
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| Decreased numbers of nephrons
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| Multiple renal cysts
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| Reduced renal corticomedullary differentiation
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| Absence of renal corticomedullary differentiation
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| Renal magnesium wasting
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| Corner fragments of ulnar metaphysis
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| Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet)
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| Talipes calcaneovalgus
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| Short 2nd toe
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| Leukopenia
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| Talipes
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| Eosinophilia
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| Abnormality of leukocytes
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| Abnormal retinal pigmentation
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| Pigmentary retinal deposits
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| Anterior segment dysgenesis
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| Congenital primary aphakia
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| Corneal degeneration
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| Paroxysmal involuntary eye movements
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| Band-shaped corneal dystrophy
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| Absent inner eyelashes
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| Pointed ulnar metaphysis
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| Neoplasm of the tracheobronchial system
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| Generalized tonic-clonic seizures
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| Neuromuscular dysphagia
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| Cone-shaped epiphyses of phalanges 2 to 5
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| Spastic gait
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| Bradykinesia
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| Gait ataxia
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| Lower limb spasticity
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| Abnormality of the cerebrum
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| Rigidity
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| Morphological abnormality of the pyramidal tract
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| Narrow philtrum
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| Midline sinus of philtrum
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| Neoplasm of the colon
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| Branchial sinus
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| Diffuse cerebellar atrophy
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| Gustatory lacrimation
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| Periauricular skin pits
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| Skin pits
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| Abnormality of facial skeleton
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| Membranous choanal atresia
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| Chin with horizontal crease
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| Broad chin
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| Tented philtrum
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| Chin with H-shaped crease
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| Malaligned philtral ridges
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| Philtrum with midline raphe
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| Hirsutism
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| EKG
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| Clitoral hypertrophy
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| Dermatological manifestations of systemic disorders
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| Short 3rd toe
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| Multiple lentigines
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| Abnormality of skin pigmentation
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| Juvenile onset
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| Neonatal onset
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| Increased CSF interferon alpha
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| Synostosis involving the 5th metacarpal
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| Cortical gyral simplification
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| Cerebellar ataxia associated with quadrupedal gait
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| Metacarpal synostosis
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| Synostosis involving bones of the fingers
-
| Synostosis involving the 1st metacarpal
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| Carpal synostosis
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| Synostosis involving the 2nd metacarpal
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| Chronic CSF lymphocytosis
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| Synostosis involving the 4th metacarpal
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| Synostosis involving the 3rd metacarpal
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| Frontal venous angioma
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| Abnormal alpha granules
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| Abnormality of cerebral veins
-
| Cerebral venous angioma
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| Abnormal energy expenditure
-
| Increased resting energy expenditure
-
| Abnormal dense granules
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| Abnormal surface-connected open canalicular system
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| Extrahepatic cholestasis
-
| Abnormality of folate metabolism
-
| Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration
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| Abnormal homeostasis
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| Pyelonephritis
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| Abnormal autonomic nervous system morphology
-
| Abnormal autonomic nervous system physiology
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| Abnormal sudomotor regulation
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| Pulmonary artery atresia
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| Vascular calcification
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| Pulmonary artery aneurysm
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| Venous thrombosis
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| Arteriosclerosis of small cerebral arteries
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| Abnormality of the pulmonary vasculature
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| Ascending aortic dissection
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| Tortuous cerebral arteries
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| Dry hair
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| Generalized hypopigmentation of hair
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| Abnormality of hair density
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| Regional abnormality of skin
Handlinger tilknyttet webside