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| Peripheral nerve compression
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| Maxillary lateral incisor microdontia
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| Basal lamina 'onion bulb' formation
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| Paresthesia
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| Decreased miniature endplate potentials
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| EMG
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| Intermittent jaundice
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| Distal sensory impairment of all modalities
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| Abnormality of the hair
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| Lipodystrophy
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| Abnormality of adipose tissue
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| Abnormality of the musculature of the limbs
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| Increased adipose tissue
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| Abnormal axial skeleton morphology
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| Easily subluxated first metacarpophalangeal joints
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| Mixed hypo- and hyperpigmentation of the skin
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| Aplasia/hypoplasia affecting bones of the axial skeleton
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| Vitiligo
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| Upper limb amyotrophy
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| Aplasia/Hypoplasia involving the musculature of the extremities
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| Paroxysmal ventricular tachycardia
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| Congenital atrioventricular dissociation
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| Supraventricular tachycardia
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| Permanent atrial fibrillation
-
| Paroxysmal atrial fibrillation
-
| Ventricular tachycardia
-
| Nodular calcific aortic valve disease
-
| Effort-induced polymorphic ventricular tachycardias
-
| Atrial situs ambiguous
-
| Atrial situs inversus
-
| Snowflake retinal degeneration
-
| Subretinal exudate
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| Vitreitis
-
| Retinal hole
-
| Left atrial isomerism
-
| Right atrial isomerism
-
| Abnormal atrial arrangement
-
| Abnormal spatial orientation of the cardiac segments
-
| Alcohol-induced rhabdomyolysis
-
| Everted antitragus
-
| Athetoid cerebral palsy
-
| Decorticate rigidity
-
| Abnormality of alanine metabolism
-
| Abnormality of tyrosine metabolism
-
| Retrognathia
-
| Abnormality of pyruvate family amino acid metabolism
-
| Abnormality of isoleucine metabolism
-
| Hyperisoleucinemia
-
| Hypervalinemia
-
| Hyperleucinemia
-
| Malar flattening
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| Facial grimacing
-
| Delayed cranial suture closure
-
| Abnormality of the face
-
| Long face
-
| Abnormality of the mandible
-
| Small face
-
| Narrow face
-
| Lobulated tongue
-
| Movement abnormality of the tongue
-
| Difficulty in tongue movements
-
| Cleft soft palate
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| Broad alveolar ridges
-
| Short upper lip
-
| Narrow palate
-
| Abnormality of the middle ear ossicles
-
| Preauricular skin furrow
-
| Medial rotation of the medial malleolus
-
| Small epiphysis of the middle phalanx of the 5th toe
-
| Skin rash
-
| Pruritus
-
| Hypoplasia of the anterior nasal spine
-
| Aplasia of the maxilla
-
| Abnormal hand bone ossification
-
| Absence of the third cerebral ventricle
-
| Abnormality of the diencephalon
-
| Abnormality of thalamus morphology
-
| Pallor
-
| Palmoplantar keratoderma
-
| Abnormality of the zygomatic bone
-
| Cheekbone underdevelopment
-
| Atypical scarring of skin
-
| Abnormal ossification of hand bones
-
| Large joint dislocations
-
| Dumbbell-shaped humerus
-
| Abnormality of the epiphyses of the phalanges of the hand
-
| Rotary nystagmus
-
| Aplasia/Hypoplasia of the capital femoral epiphysis
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| Recurrent skin infections
-
| Recurrent patellar dislocation
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| Primary ovarian failure
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| Abnormalities of the metaphyses of the hand
-
| Flattened proximal radial epiphyses
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| Femoral bowing present at birth, straightening with time
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| Erysipelas
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| Numerous nevi
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| Aplasia cutis congenita
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| Milia
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| Seborrheic dermatitis
-
| Plethora
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