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| EEG with parietal focal spike waves
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| EEG with frontal focal spikes
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| EEG with central focal spikes
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| EEG with parietal focal spikes
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| EEG with occipital focal spikes
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| Neoplasm of the skin
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| Abnormally lax or hyperextensible skin
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| Abnormal blistering of the skin
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| Aplasia/Hypoplasia of the skin
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| Ichthyosis
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| Aplasia/Hypoplasia of the lens
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| Aplasia/Hypoplasia affecting the anterior segment of the eye
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| Aplasia/Hypoplasia affecting the retina
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| Aplasia/Hypoplasia of the fovea
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| Firm muscles
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| Shoulder girdle muscle atrophy
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| Generalized muscle hypertrophy
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| Ambiguous atrioventricular connection
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| Neck flexor weakness
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| Enteroviral dermatomyositis syndrome
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| Posterior cerebral artery stenosis
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| Sclerosis of distal toe phalanx
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| Abnormality of the celiac artery
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| Reduced maximal expiratory pressure
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| Premature ovarian failure
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| Parathyroid hyperplasia
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| Prolactin deficiency
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| Rib segmentation abnormalities
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| Primary adrenal insufficiency
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| Insulin-dependent but ketosis-resistant diabetes
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| Precocious puberty with Sertoli cell tumor
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| Dysphasia
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| obsolete Rudimentary to absent fibulae
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| Mesomelic leg shortening
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| Metaphyseal rarefaction
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| prominent ulnar styloid process
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| Writer's cramp
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| Complete duplication of the distal phalanx of the hallux
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| Absent pigmentation of the limbs
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| Abnormality of circulating fibrinogen
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| Hyperfibrinogenemia
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| Memory impairment
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| Prolonged bleeding following procedure
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| EEG abnormality
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| Vitamin K deficiency
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| Abnormal leukocyte count
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| Impaired thromboxane A2 agonist-induced platelet aggregation
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| Anemia due to reduced life span of red cells
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| Subconjunctival hemorrhage
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| Symmetrical progressive peripheral demyelination
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| Lobar holoprosencephaly
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| Sclerosis of the distal phalanx of the hallux
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| Abnormality of the 4th finger
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| Cone-shaped epiphysis of terminal phalanx of the middle finger
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| Fused epiphysis of terminal phalanx of the middle finger
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| Large epiphysis of terminal phalanx of the middle finger
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| Prematurely fused epiphysis of terminal phalanx of the middle finger
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| Short distal phalanx of the 3rd finger
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| Abnormality of the epiphyses of the terminal phalanx of the middle finger
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| Hordeolum
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| Hordeolum externum
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| Abnormality of the distal phalanx of the 2nd toe
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| Fused teeth
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| Gemination
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| Mulberry molar
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| Abnormality of the middle phalanx of the 2nd toe
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| Overbite
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| Overjet
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| Peripheral demyelination
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| Epileptic spasms
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| Speech apraxia
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| Type 2 muscle fiber predominance
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| Keratocystic odontogenic tumor
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| Projection of scalp hair onto lateral cheek
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| Hypoplastic biceps
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| Hypoplasia of the musculature
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| Weakness of the intrinsic hand muscles
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| Loss of truncal subcutaneous adipose tissue
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| Increased subcutaneous truncal adipose tissue
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| Aplasia/Hypoplasia of the phalanges of the 2nd finger
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| Abnormality of the hairline
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| Abnormality of the proximal ulnar epiphysis
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| Broad distal phalanx of the 2nd finger
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| Bullet-shaped distal phalanx of the 2nd finger
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| Pseudoepiphysis of the distal phalanx of the hallux
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| Ivory epiphysis of the distal phalanx of the hallux
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| Stippling of the epiphysis of the distal phalanx of the hallux
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| Small epiphysis of the distal phalanx of the hallux
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| Enlarged epiphysis of the distal phalanx of the hallux
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| Cone-shaped epiphysis of the distal phalanx of the hallux
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| Irregular epiphysis of the distal phalanx of the hallux
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| Fragmentation of the epiphysis of the distal phalanx of the hallux
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| Abnormality of the proximal phalanx of the 2nd toe
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| Absent epiphysis of the 1st metatarsal
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| Triangular epiphysis of the distal phalanx of the hallux
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| Aplasia/Hypoplasia of the phalanges of the 3rd toe
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| Hordeolum internum
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| Skin tags
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| Partial left sided absence of pericardium
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| Partial diaphragmatic absence of pericardium
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