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| Bullet-shaped distal phalanx of the 5th toe
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| Curved middle phalanx of the 3rd toe
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| Acute infantile spinal muscular atrophy
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| Developmental stagnation
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| Aplasia/Hypoplasia involving the corticospinal tracts
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| Sclerosis of 2nd finger phalanx
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| Sclerosis of 3rd finger phalanx
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| Curved proximal phalanx of the 5th toe
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| Limb fasciculations
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| Follicular thyroid carcinoma
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| Acute megakaryocytic leukemia
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| Papillary renal cell carcinoma type 2
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| Renal cortical adenoma
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| Atrophy/Degeneration affecting the central nervous system
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| Progressive spastic quadriplegia
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| Primitive reflexes (palmomental, snout, glabellar)
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| Expressive language delay
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| Myelomeningocele
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| Small cerebral cortex
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| Nonprogressive cerebellar ataxia
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| Cupped metaphyses of hand bones
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| Bitot spots of the conjunctiva
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| Autoamputation of digits
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| Hemangiomatosis
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| Midfrontal capillary hemangioma
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| Sparse facial hair
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| Honeycomb palmoplantar keratoderma
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| Calf muscle pseudohypertrophy
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| Perifollicular hyperkeratosis
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| Scapuloperoneal weakness
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| Proximal muscle weakness
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| Generalized amyotrophy
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| Crumpled ear
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| Sacral lipoma
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| Lipoma
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| Lipomatous tumor
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| Increased urinary cortisol level
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| Pectoralis amyotrophy
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| Sternocleidomastoid amyotrophy
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| Steatocystoma multiplex
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| Liposarcoma
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| Mild intrauterine growth retardation
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| Corneal guttata
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| Adipose tissue loss
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| Valgus foot deformity
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| Hallux varus
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| 2nd-5th toe middle phalangeal hypoplasia
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| Medial deviation of the foot
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| Nonossified fifth metatarsal
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| Abnormality of the fifth metatarsal bone
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| Facial telangiectasia in butterfly midface distribution
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| Hypopigmentation of hair
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| Iron deficiency anemia
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| Autoimmune hemolytic anemia
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| Abnormal bleeding
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| Increased red cell hemolysis by shear stress
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| Mitochondrial lysine transport defect
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| Normochromic anemia
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| Pancreatic islet cell adenoma
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| Thyroid defect in oxidation and organification of iodide
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| Thrombocytosis
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| Normocytic anemia
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| Macular hypopigmented whorls, streaks, and patches
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| Abnormal shape of the frontal region
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| Short face
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| Abnormal shape of the occiput
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| EEG with photoparoxysmal response grade IV
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| Hemihypsarrhythmia
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| EEG with photoparoxysmal response grade II
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| EEG with photoparoxysmal response grade III
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| EEG with occipital slowing
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| EEG with photoparoxysmal response grade I
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| Nuclear pulverulent cataract
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| Radially pointed middle finger phalanges
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| Pseudoepiphyses of the toes
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| Periosteal new bone of middle finger phalanges
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| Irregular epiphyses of the toes
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| Fragmentation of the epiphyses of the toes
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| Enlarged epiphyses of the toes
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| Cone-shaped epiphyses of the toes
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| Bracket epiphyses of the toes
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| Absent epiphyses of the toes
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| Radially pointed proximal middle-finger phalanx
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| Abnormality of the epiphyses of the toes
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| Chaddock reflex
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| Tendon xanthomatosis
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| Unilateral strabismus
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| Abnormality of circulating protein level
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| Bifid tragus
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| Epiphyseal deformities of tubular bones
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| Sensory ataxia
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| Absent tragus
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| Lamellar pulverulent cataract
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| Bifid sternum
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| Asternia
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| Cervical spinal cord atrophy
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| Abnormality of the spinal meninges
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| Spinal cord tumor
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| Spinal dysraphism
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| Abnormally low-pitched voice
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