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| Small nail
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| Nonimmune hydrops fetalis
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| Fetal ascites
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| Osteolytic defects of the distal phalanx of the 4th toe
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| Patellar subluxation
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| Bipartite patella
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| Sirenomelia
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| Hypertrophy of the lower limb
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| Amniotic constriction rings of legs
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| Acromelia of the lower limbs
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| Long metacarpals
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| Osseous finger syndactyly
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| Digital constriction ring
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| Abnormality of the palmar creases
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| Growth hormone excess
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| Abnormality of renin-angiotensin system
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| Adrenal insufficiency
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| Hyperactive renin-angiotensin system
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| Adrenogenital syndrome
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| Hyperparathyroidism
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| Hyperinsulinemia
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| Adrenocortical abnormality
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| Increased circulating renin level
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| Small epiphysis of the middle phalanx of the 4th finger
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| Stippling of the epiphysis of the middle phalanx of the 4th finger
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| Ivory epiphysis of the middle phalanx of the 4th finger
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| Pseudoepiphysis of the middle phalanx of the 4th finger
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| Short proximal phalanx of the 5th finger
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| Broad proximal phalanx of the 5th finger
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| Triangular epiphysis of the middle phalanx of the 4th finger
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| Aplasia of the proximal phalanx of the 5th finger
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| Bullet-shaped proximal phalanx of the 5th finger
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| Curved proximal phalanx of the 5th finger
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| Abnormality of the tongue
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| Oral ulcer
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| Wide mouth
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| Abnormality of the mouth
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| Abnormality of head or neck
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| Aplasia of the uterus
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| Gonadoblastoma
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| Abnormality of the lip
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| Macroglossia
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| Broad tibial metaphyses
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| Distal tibial bowing
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| Cortically dense long tubular bones
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| Broad femoral metaphyses
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| Hemoglobin Barts
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| Congenital talipes calcaneovalgus
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| Congenital foot contraction deformities
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| Limited elbow extension and supination
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| Multiple prenatal fractures
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| Increased red cell osmotic fragility
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| Cervical spina bifida
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| Ulnar radial head dislocation
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| Waldenstrom macroglobulinemia
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| Midshaft hypospadias
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| Gluten intolerance
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| Bracket epiphyses of the distal phalanges of the hand
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| Maternal anticardiolipin antibody positive
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| Food intolerance
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| Dysesthesia
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| Abnormal synaptic transmission
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| Chronic pain
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| Abnormality of the epiphyses of the middle phalanges of the hand
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| Abnormal number of dense granules
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| Pain
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| Abnormality of the epiphyses of the proximal phalanges of the hand
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| Hepatic bridging fibrosis
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| Clusters of axonal regeneration
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| Spinocerebellar tract disease in lower limbs
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| Hyperesthesia
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| Decreased distal sensory nerve action potential
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| Recurrent subcortical infarcts
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| Congenital encephalopathy
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| Nonarteriosclerotic cerebral calcification
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| Testicular gonadoblastoma
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| Epididymitis
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| Abnormality of male external genitalia
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| Supernumerary nipples
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| Absent pubic hair
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| Aniridia
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| Hypoplastic nipples
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| Absent facial hair
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| Highly arched eyebrow
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| Trichodysplasia
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| Abnormality of the penis
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| Superior lens subluxation
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| Depigmented lesions of the retinal pigment epithelium
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| Central fundal arteriolar microaneurysms
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| Male pseudohermaphroditism
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| Congenital myopia
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| Peripheral opacification of the cornea
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| Synostosis involving the elbow
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| Facial flushing after alcohol intake
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| Lytic defects of humeral diaphysis
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| Periosteal new bone (humeral diaphysis)
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| Sclerotic foci of humeral diaphysis
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| Sclerosis of humeral diaphysis
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| Slender humeral diaphysis
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| Wide humeral diaphysis
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