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| Cone-shaped epiphyses of the 2nd finger
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| Irregular epiphyses of the 2nd finger
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| Fragmentation of the epiphyses of the 2nd finger
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| Abnormality of the epiphysis of the distal phalanx of the 2nd finger
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| Triangular epiphyses of the 2nd finger
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| Superiorly displaced ears
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| Low-frequency hearing loss
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| Abnormally folded helix
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| 11 pairs of ribs
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| Short sternum
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| Episodic hypertension
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| Oligomenorrhea
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| Insulin-resistant diabetes mellitus at puberty
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| Prolactin excess
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| Panhypopituitarism
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| Hashimoto thyroiditis
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| Diabetes insipidus
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| Premature calcification of mitral annulus
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| Absence of the pulmonary valve
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| EKG
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| Pericardial constriction
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| Right ventricular dilatation
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| Restrictive heart failure
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| Congenital ichthyosiform erythroderma
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| Generalized edema
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| Streak ovary
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| Intermittent generalized erythematous papular rash
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| Aplasia/Hypoplasia of the ovary
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| Aplasia of the ovary
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| Abnormality of the female genitalia
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| Abnormality of the male genitalia
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| Diffuse palmoplantar keratoderma
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| Aplasia/Hypoplasia of the testes
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| Plaque-like facial hemangioma
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| Angulated forearm bones
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| Hair-nail ectodermal dysplasia
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| Pili torti
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| Cross-fusion of the forearm bones
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| Short humerus
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| Shortening of all distal phalanges of the toes
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| Short mandibular condyles
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| Cortical thickening of long bone diaphyses
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| Arterial disease of legs
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| Posterior radial head dislocation
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| Criss-cross atrioventricular valves
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| Esophageal diverticulum
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| Midline facial cleft
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| Chronic hepatic failure
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| Displacement of the external urethral meatus
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| Corpus cavernosum sclerosis
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| Pulp stones
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| Maternal seizures
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| Abnormality of corpus cavernosum
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| Germinoma
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| Dysgerminoma
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| Proximal tapering of metacarpals
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| Shortening of all distal phalanges of the fingers
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| Distal radial epiphyseal osteolysis
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| Shortening of all middle phalanges of the fingers
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| Expanded phalanges with widened medullary cavities
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| Patellar aplasia
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| Multiple palmar creases
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| Lateral humeral condyle aplasia
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| Increased density of long bone diaphyses
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| Metaphyseal enchondromatosis
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| Split foot
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| Rocker bottom foot
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| Long foot
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| Abnormality of the metatarsal bones
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| Short toe
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| Type E brachydactyly
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| Pseudoarthrosis
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| Camptodactyly of toe
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| Opposable triphalangeal thumb
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| Fused fourth and fifth metacarpals
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| Foveal dystrophy
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| Conjunctival whitish salt-like deposits
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| Synostosis of the proximal phalanx of the hallux with the 1st metatarsal
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| Decreased number of small peripheral myelinated nerve fibers
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| Proximal/middle symphalangism of 5th toe
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| Patchy atrophy of the retinal pigment epithelium
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| Progressive gait ataxia
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| Macular retinal pigment epithelial mottling
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| Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal
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| Anterior cortical cataract
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| Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal
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| Retinal vascular malformation
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| Clubbing
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| Hypokalemic metabolic alkalosis
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| Abnormal speech discrimination
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| Premature epimetaphyseal fusion in fibula
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| Premature epimetaphyseal fusion in tibia
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| Premature epimetaphyseal fusion in ulna
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| Asplenia
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| Unicuspid aortic valve
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| Decreased T3/T4 ratio
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| Premature epimetaphyseal fusion in foot
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| Premature epimetaphyseal fusion in hand
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| Phimosis
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| Delayed menarche
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