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| Duplication of the distal phalanx of the 3rd finger
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| Complete duplication of the distal phalanx of the 3rd finger
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| Duplication of the proximal phalanx of the 3rd finger
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| Complete duplication of the proximal phalanx of the 3rd finger
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| Complete duplication of the middle phalanx of the 3rd finger
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| Partial duplication of the middle phalanx of the 3rd finger
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| Partial duplication of the distal phalanx of the 3rd finger
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| Short fetal humerus length
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| Short fetal femur length
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| Neurofibromas
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| Menstrual irregularities
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| Hyperaldosteronism
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| Pseudohypoparathyroidism
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| Goiter
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| Congenital hypothyroidism
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| Neonatal insulin-dependent diabetes mellitus
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| Thyroid adenoma
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| Insulin resistance
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| Fetal ultrasound soft marker
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| Increased serum zinc
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| Enlarged fetal cisterna magna
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| Fetal choroid plexus cysts
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| Aplasia/Hypoplasia of the palmar creases
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| Absent palmar crease
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| Hypertrophy of the upper limb
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| Hyperextensibility at elbow
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| Abnormality of the hypothenar eminence
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| Small hypothenar eminence
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| Urethral fistula
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| Urethral valve
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| Acromelia of the upper limbs
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| Ivory epiphysis of the distal phalanx of the 4th finger
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| Hyperchloremia
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| Abnormality of chloride homeostasis
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| Enlarged epiphysis of the middle phalanx of the 4th finger
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| Cone-shaped epiphysis of the middle phalanx of the 4th finger
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| Bracket epiphysis of the middle phalanx of the 4th finger
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| Absent epiphysis of the middle phalanx of the 4th finger
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| Triangular epiphysis of the middle phalanx of the 5th finger
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| Stippling of the epiphysis of the middle phalanx of the 5th finger
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| Small epiphysis of the middle phalanx of the 5th finger
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| Pseudoepiphysis of the middle phalanx of the 5th finger
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| Ethmoidal encephalocele
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| Irregular epiphysis of the middle phalanx of the 4th finger
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| Fragmentation of the epiphysis of the middle phalanx of the 4th finger
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| Aplasia cutis congenita over parietal area
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| Decreased fertility
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| Transverse vaginal septum
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| Polycystic ovaries
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| Abnormality of the menstrual cycle
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| Amenorrhea
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| Abnormality of the vagina
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| Rectovaginal fistula
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| Vaginal atresia
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| Ovarian gonadoblastoma
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| Periosteal thickening of long tubular bones
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| Limited shoulder movement
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| Ankle contracture
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| Proximal femoral epiphysiolysis
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| Increased laxity of ankles
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| Rickets of the lower limbs
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| Generalized bone demineralization
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| Dystrophic toenail
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| Rounded middle phalanx of finger
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| Hyperconvex fingernails
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| Transient erythroblastopenia
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| Deep-set nails
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| Absent fingernail
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| Calcific stippling of infantile cartilaginous skeleton
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| Paronychia
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| Erythrocyte macrocytosis
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| Bifid thumb distal phalanx
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| Diffuse cerebral calcification
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| Scapular winging
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| Cerebral cortex with spongiform changes
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| Postnatal-onset ichthyosiform erythroderma
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| Basal ganglia cysts
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| Oval transradiancy (humeral)
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| Straight clavicles
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| Abnormality of the pituitary gland
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| Abnormality of the internal capsule
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| Abnormality of the brainstem white matter
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| Osteoporotic humerus
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| Weakness of orbicularis oculi muscle
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| Small abnormally formed scapulae
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| Enlarged pituitary gland
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| Abnormal size of pituitary gland
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| Deformed humerus
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| Reduced thyroxin-binding globulin
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| Congenital pseudarthrosis of the clavicle
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| Late-onset proximal muscle weakness
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| Osteolysis involving tarsal bones
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| Scapuloperoneal amyotrophy
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| Moderate conductive hearing impairment
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| Absent epiphysis of the distal phalanx of the 5th finger
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| Slender metacarpals
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| Type II truncus arteriosus
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| Demyelinating motor neuropathy
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| Progressive truncal ataxia
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| Flaring of lower rib cage
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