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| Lower eyelid edema
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| Prominent fingertip pads
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| Diffuse mesangial sclerosis
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| Nasal obstruction
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| Malformation of the heart and great vessels
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| Focal T2 hyperintense thalamic lesion
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| Intestinal malrotation
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| T2 hypointense thalamus
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| Small basal ganglia
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| Absent nipples
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| Low-set nipples
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| Constrictive pericarditis
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| Anomaly of lower limb diaphyses
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| Cerebellar gliosis
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| Enlarged flash visual evoked potentials
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| Abnormality of the vasculature of the eye
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| Abnormality of the retinal vasculature
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| Late onset congenital glaucoma
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| Retinal arteriolar constriction
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| Abnormality of the extraocular muscles
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| Abnormality of the line of Schwalbe
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| Genetic anticipation
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| Sclerotic foci in forearm bones
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| Congenital muscular dystrophy
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| Hyperextensible skin of face
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| Lytic defects of the forearm bones
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| Fractured forearm bones
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| Exostoses of the forearm bones
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| Pelvic girdle muscle weakness
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| Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
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| Slender forearm bones
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| Few cafe-au-lait spots
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| Fetal pyelectasis
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| Abnormality of the renal pelvis
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| Abnormality of chromosome stability
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| Abnormality of ductus venosus blood flow
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| Chromosomal breakage induced by crosslinking agents
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| Dilatation of the renal pelvis
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| Delayed pubic bone ossification
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| Aplasia of the nasal bone
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| Decreased methylcobalamin
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| Aplasia/Hypoplasia of the nasal bone
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| Adrenal hyperplasia
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| Hypocortisolemia
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| Compensated hypothyroidism
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| Female infertility
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| Symphalangism of the 5th finger
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| Abnormality of the middle phalanx of the 5th finger
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| Pituitary resistance to thyroid hormone
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| Androgen insufficiency
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| Curved phalanges of the 5th finger
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| Osteolytic defects of the phalanges of the 5th finger
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| Echogenic intracardiac focus
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| Muscle hypertrophy of the lower extremities
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| Distal upper limb muscle weakness
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| Abnormality of the phalanges of the 5th finger
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| Neonatal intestinal obstruction
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| Wide proximal femoral metaphysis
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| Congenital bilateral hip dislocation
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| Branchial cyst
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| Cholesteatoma
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| Branchial anomaly
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| Branchial fistula
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| Teratoma
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| Presacral teratoma
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| Hemisacrum (S2-S5)
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| Bifid sacrum
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| Euthyroid goiter
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| Supernumerary spleens
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| Juvenile posterior subcapsular lenticular opacities
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| Restrictive external ophthalmoplegia
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| Honeycomb retinal degeneration
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| Prominent epicanthal folds
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| Bilateral congenital mydriasis
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| Broad lateral eyebrow
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| Blue cone monochromacy
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| Osteolytic defects of the middle phalanx of the 2nd finger
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| Patchy sclerosis of the middle phalanx of the 2nd finger
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| Bullet-shaped middle phalanx of the 2nd finger
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| Curved middle phalanx of the 2nd finger
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| Absent middle phalanx of 2nd finger
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| Short middle phalanx of the 2nd finger
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| Symphalangism of middle phalanx of 2nd finger
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| Triangular shaped middle phalanx of the 2nd finger
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| Ketotic hypoglycemia
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| Proximal/middle symphalangism of the 2nd finger
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| Cough
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| Profound global developmental delay
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| Ovarian papillary adenocarcinoma
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| Small intestinal polyp
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| Triangular epiphyses of the hallux
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| Stippling of the epiphyses of the hallux
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| Small epiphyses of the hallux
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| Pseudoepiphyses of the hallux
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| Absent epiphysis of the proximal phalanx of the hallux
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| Abnormality of the epiphysis of the proximal phalanx of the hallux
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| Abnormality of the epiphysis of the 1st metatarsal
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| Abnormality of the epiphysis of the distal phalanx of the hallux
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| Occipital meningocele
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| Cone-shaped epiphysis of the proximal phalanx of the hallux
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