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| Midline defect of mandible
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| Tapering pointed ends of distal finger phalanges
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| Blood group antigen abnormality
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| Extra concha fold
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| Absence of Lutheran antigen on erythrocytes
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| Anemia of inadequate production
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| Self-mutilation
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| Frontal release signs
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| Anxiety (with pheochromocytoma)
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| Criss-cross atrioventricular valves with superior-inferior ventricles
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| Superior-inferior ventricles without criss-cross atrioventricular valves
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| Congenitally corrected transposition of the great arteries
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| Apathy
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| Abnormal atrioventricular connection
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| Absent left sided atrioventricular connection
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| L-looping of the right ventricle
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| Abnormal connection of the cardiac segments
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| Delusions
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| Absent right sided atrioventricular connection
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| Congenital cystic adenomatoid malformation of the lung
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| Abnormality of the level of lipoprotein cholesterol
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| Diminished motivation
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| Pilonidal sinus
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| Abnormality of umbilical vein blood flow
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| Abnormality of the fetal cardiovascular system
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| Broad columella
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| Absent toe
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| Low insertion of columella
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| Chordoma
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| Palmar hyperkeratosis
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| Short eyelashes
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| Sacrococcygeal pilonidal abnormality
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| Ectopic calcification
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| Stereotypic behavior
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| Inflexible adherence to routines or rituals
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| Irritability
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| Short attention span
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| Impaired social interactions
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| Disinhibition
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| Anxiety
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| Hallucinations
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| Post-partum hemorrhage
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| Increased serum 1,25-dihydroxyvitamin D3
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| Cystathioninuria
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| Neutrophillia
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| Glutaric aciduria
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| 1-2 toe complete cutaneous syndactyly
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| Episodic hyperhidrosis
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| Sacral meningocele
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| Polyarticular arthritis
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| Striae distensae
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| Fifth finger distal phalanx clinodactyly
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| 2-4 toe cutaneous syndactyly
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| Axillary pterygia
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| Acne
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| Atypical nevi (>5mm with irregular edge and pigmentation)
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| Acrocyanosis
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| Elevated alkaline phosphatase
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| Reye syndrome-like episodes
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| Fatal liver failure in infancy
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| Portal fibrosis
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| Depletion of mitochondrial DNA in liver
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| Shortening of all middle phalanges of the toes
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| Abnormality of neuronal migration
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| Paroxysmal dystonia
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| Exaggerated startle response
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| Focal clonic seizures
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| Large fleshy ears
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| Prominent interphalangeal joints
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| Unilateral oligodactyly
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| Expanded metacarpals with widened medullary cavities
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| Osteoarthritis of the distal interphalangeal joint
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| Abnormality of the voice
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| Hoarse voice
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| Patchy palmoplantar keratoderma
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| Abnormality of the larynx
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| Laryngomalacia
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| Laryngeal stenosis
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| Renal cell carcinoma
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| Vocal cord paresis
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| Vocal cord paralysis
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| Vocal cord paralysis (caused by tumor impingement)
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| Subglottic stenosis
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| Congenital miosis
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| Saccular conjunctival aneurysms
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| Flat cornea
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| Loss of retinal pigment epithelium
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| Opacification of the corneal epithelium
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| Punctate periventricular T2 hyperintense foci
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| Cone-shaped metacarpal epiphyses
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| Potter facies
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| Large forehead
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| Deep philtrum
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| Short columella
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| Frontal bossing
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| Facial cleft
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| Congenital facial diplegia
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| Muscle fiber inclusion bodies
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| Motheaten muscle fibers
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| Loss of consciousness
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