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| Transverse facial cleft
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| Pancreatic fibrosis
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| Neoplasm of the parathyroid gland
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| Abnormality of the vertebral epiphyses
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| Hypertensive crisis
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| Abnormality of the soft palate
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| Abnormality of the hard palate
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| Abnormal eating behavior
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| Bulimia
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| Interdigital loops
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| Abnormality of the ductus choledochus
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| Cerebral degeneration
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| Lop ear
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| Enlarged thorax
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| Respiratory acidosis
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| Fructose intolerance
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| Hyperkalemic metabolic acidosis
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| Hypochloremic metabolic alkalosis
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| Episodic ketoacidosis
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| Patchy sclerosis of the distal phalanx of the 3rd finger
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| Type II diabetes mellitus
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| Metabolic ketoacidosis
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| Distal/middle symphalangism of 3rd finger
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| Triangular shaped distal phalanx of the 3rd finger
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| Neonatal short-trunk short stature
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| Abnormality of the epiphysis of the distal phalanx of the 2nd toe
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| Abnormality of the epiphysis of the middle phalanx of the 2nd toe
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| Stippling of the epiphyses of the 5th toe
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| Triangular epiphyses of the 3rd finger
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| Pseudoepiphyses of the 5th toe
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| Small epiphyses of the 5th toe
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| Irregular epiphyses of the 5th toe
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| Ivory epiphyses of the 5th toe
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| Enlarged epiphyses of the 5th toe
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| Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
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| Proximal tibial hypopolasia
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| Osteolysis of patellae
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| Broad distal phalanx of the 3rd finger
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| Broad long bone diaphyses
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| Distal ulnar epiphyseal stippling
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| Bullet-shaped distal phalanx of the 3rd finger
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| Dumbbell-shaped femur
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| Limited elbow flexion
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| Moderate postnatal growth retardation
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| Cerebral berry aneurysm
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| Punctate palmoplantar hyperkeratosis
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| Antenatal intracerebral hemorrhage
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| Progressive spastic paraplegia
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| Pain insensitivity
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| Congenital posterior occipital alopecia
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| Hypopigmented streaks
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| Pseudobulbar paralysis
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| Severe photosensitivity
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| Increased megakaryocyte count
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| Limited extraocular movements
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| Pseudarthrosis of the forearm bones
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| Congenital stapes ankylosis
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| Hemoglobinuria
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| Choroidal degeneration
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| Intermittent microsaccadic pursuits
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| Hypoproteinemia
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| Hyperglycemia
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| Hyperlipidemia
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| Glycosuria
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| Flattened epiphyses
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| Elbow ankylosis
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| Hypoalbuminemia
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| Hypercalcemia
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| Prolonged partial thromboplastin time
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| Defective DNA repair after ultraviolet radiation damage
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| Proximal spinal muscular atrophy
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| Abnormal auditory evoked potentials
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| Absent gonadal tissue
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| Olivopontocerebellar hypoplasia
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| Loss of ability to walk
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| Dilation of lateral ventricles
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| Retrocerebellar cyst
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| High, narrow palate
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| Palate telangiectasia
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| Large foramen magnum
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| Abnormality of skull ossification
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| Prominent median palatal raphe
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| Severe sensorineural hearing impairment
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| Exercise-induced asthma
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| Hypertrophy of the urinary bladder
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| Pulsatile tinnitus
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| Abnormality of the stapes
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| Male infertility
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| Aplasia of the vagina
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| Anteriorly displaced genitalia
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| Abnormality of DNA repair
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| Abnormality of the coagulation cascade
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| Elevated serum creatinine
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| Glyoxalase deficiency
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| Telangiectasia of the ear
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| Anotia
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| Abnormality of the crus of the helix
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| Enlarged interphalangeal joints
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| Thickened ears
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| Distal
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