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| Abnormal nasal morphology
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| Hypoplastic nasal septum
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| Abnormality of the Achilles tendon
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| Abnormality of the intervertebral disk
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| True hermaphroditism
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| Pectus excavatum
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| Pelvic asymmetry
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| Ectopia of the spleen
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| Aplasia/Hypoplasia of the spleen
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| Esophageal stenosis
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| Widening of the sacrosciatic notch
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| Abnormality of the greater sacrosciatic notch
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| Steep acetabular roof
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| Acetabular spurs
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| Sensory neuropathy
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| Pseudoepiphysis of the distal phalanx of the 5th toe
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| Death in early adulthood
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| Odontogenic neoplasm
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| Multiple glomerular cysts
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| Maternal hyperphenylalaninemia
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| Testicular seminoma
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| Testicular teratoma
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| Ovarian neoplasm
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| Myositis
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| Sertoli cell neoplasm
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| Leydig cell neoplasia
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| Dorsal subluxation of ulna
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| Tapered metacarpals
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| Absent phalangeal crease
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| Absent trapezoid bone
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| Fingerpad telangiectases
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| Irregular proximal tibial epiphyses
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| Multicentric ossification of proximal femoral epiphyses
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| Finger syndactyly
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| Foot polydactyly
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| Short middle phalanx of finger
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| Leukonychia
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| Broad nail
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| Hallux valgus
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| Weight loss
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| Genital tract atresia
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| Sclerosis of 5th toe phalanx
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| Sclerosis of 4th toe phalanx
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| Paucity of anterior horn motor neurons
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| Sclerosis of toe phalanx
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| Sclerosis of 3rd toe phalanx
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| Recurrent bacterial meningitis
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| Sclerosis of 5th finger phalanx
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| Progressive psychomotor deterioration
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| Occipital myelomeningocele
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| Atypical absence seizures
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| Persistent pupillary membrane
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| Alopecia totalis
-
| Nevus flammeus of the forehead
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| Macular hyperpigmented dermopathy
-
| Hypoplastic-absent sebaceous glands
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| Palmoplantar hyperhidrosis
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| Discoid lupus erythematosus
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| Neonatal wrinkled skin of hands and feet
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| Polyphagia
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| Membranous nephropathy
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| Minimal change glomerulonephritis
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| Wide tufts of distal phalanges
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| Ureter duplex
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| Global proximal tubulopathy
-
| Synovial sarcoma
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| Ureter fissus
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| C3 nephropathy
-
| Thin glomerular basement membrane
-
| Mesangial proliferation
-
| Abnormality of the nephron
-
| Abnormality of the pineal gland
-
| Abnormality of pineal morphology
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| Aplasia/Hypoplasia of the optic nerve
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| Gastric ulcer
-
| Abnormal pineal volume
-
| Decreased pineal volume
-
| Increased pineal volume
-
| Agenesis of pineal gland
-
| Abnormal retinal folds
-
| Aplasia/Hypoplasia of the iris
-
| Abnormality of the palpebral fissures
-
| Abnormality of the retinal pigment epithelium
-
| Aplasia/Hypoplasia affecting the eye
-
| Aplasia/Hypoplasia affecting the fundus
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| Abnormality of the vasculature of the conjunctiva
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| Aplasia/Hypoplasia affecting the uvea
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| Abnormality of the vasculature
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| Sclerosis of the distal phalanx of the 3rd toe
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| Increased muscle fatiguability
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| Chevron-shaped/cone-shaped radius
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| Episodic flaccid weakness
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| Deformed radius
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| Undermodelled forearm bones
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| Broad forearm bones
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| Skeletal myopathy
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| Wide radioulnar joints
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| Reduced subcutaneous adipose tissue
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| Hypoplasia of lymphatic vessels
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| Fractured radius
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