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| Lytic defects of the radius
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| Multicentric ossification of proximal humeral epiphyses
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| Hypothalamic hypothyroidism
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| Pelvic girdle amyotrophy
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| Infantile muscular hypotonia
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| Slender long bones with narrow diaphyses
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| Decreased serum progesterone
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| Rhizomelic arm shortening
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| Epiphyseal streaking
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| Proximal upper limb amyotrophy
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| Adrenal medullary hypoplasia
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| Bleeding with minor or no trauma
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| Bleeding requiring red cell transfusion
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| Abnormal platelet granules
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| Decreased platelet P2Y12 receptor
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| Decreased platelet glycoprotein VI
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| Acute disseminated intravascular coagulation
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| Choroid hemorrhage
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| Hyphema
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| Hemorrhage of the eye
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| Abnormal umbilical stump bleeding
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| Ivory epiphyses of the toes
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| Wide/broad phalanges of the ring finger
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| Symphalangism of the 4th finger
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| Short phalanges of the ring finger
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| Osteolytic defects of the phalanges of the 4th finger
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| Hypoplastic phalanges of the ring finger
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| Expanded phalanges of the ring finger
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| Bracket epiphyses of the 4th finger
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| Conical maxillary incisor
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| Conical primary incisor
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| Incisor macrodontia
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| Abnormality of premolar morphology
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| Talon cusp
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| Abnormality of the phalanges of the toes
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| Hypomature dental enamel
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| Hypocalcification of dental enamel
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| Double tooth
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| Dens in dente
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| Hypoplasia of serratus anterior muscle
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| Triangular shaped phalanges of the 2nd finger
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| Congenital absence of gluteal muscles
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| Abnormality of the proximal phalanx of the 2nd finger
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| Abnormality of the middle phalanx of the 2nd finger
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| Abnormality of the distal phalanx of the 2nd finger
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| Loss of gluteal subcutaneous adipose tissue
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| Upper limb muscle hypoplasia
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| Progressive loss of facial adipose tissue
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| Curved phalanges of the 2nd finger
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| Bullet-shaped phalanges of the 2nd finger
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| Enlarged epiphysis of the proximal phalanx of the hallux
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| Fragmentation of the epiphysis of the proximal phalanx of the hallux
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| Irregular epiphysis of the proximal phalanx of the hallux
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| Ivory epiphysis of the proximal phalanx of the hallux
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| Pseudoepiphysis of the proximal phalanx of the hallux
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| Small epiphysis of the proximal phalanx of the hallux
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| Stippling of the epiphysis of the proximal phalanx of the hallux
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| Triangular epiphysis of the proximal phalanx of the hallux
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| Absent epiphysis of the distal phalanx of the hallux
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| Bracket epiphysis of the distal phalanx of the hallux
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| Aorto-ventricular tunnel
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| Scimitar anomaly
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| Multiple muscular ventricular septal defects
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| Apical muscular ventricular septal defect
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| Muscular ventricular septal defect
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| Inlet ventricular septal defect
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| Gerbode ventricular septal defect
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| Abnormality of abdominal situs
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| Testicular fibrosis
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| Total absence of the pericardium
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| Congenital defect of the pericardium
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| Generalized dystonia
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| Mixed demyelinating and axonal polyneuropathy
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| Delayed fine motor development
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| Receptive language delay
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| Complete breech presentation
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| Incomplete breech presentation
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| Abdominal wall defect
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| Dyssynergia
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| Low placental alkaline phosphatase
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| Mirror image polydactyly
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| Low alkaline phosphatase of hepatic origin
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| Low intestinal alkaline phosphatase
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| Low alkaline phosphatase of bone origin
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| Low alkaline phosphatase of renal origin
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| Elevated placental alkaline phosphatase
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| Low tissue non-specific alkaline phosphatase
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| Elevated alkaline phosphatase of renal origin
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| Elevated intestinal alkaline phosphatase
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| Short neck
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| Gastrointestinal angiodysplasia
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| Long neck
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| Torticollis
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| Thickened nuchal skin fold
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| Broad neck
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| Cystic hygroma
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| Abnormality of the eye
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| Abnormality of the retina
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| Esophageal neoplasm
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| Urinary bladder sphincter dysfunction
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