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| Absent inner and outer dynein arms
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| Abnormal axonemal organization of respiratory motile cilia
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| Moderate hearing impairment
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| Pseudoepiphysis of the middle phalanx of the 5th toe
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| Small epiphysis of the proximal phalanx of the 4th finger
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| Ingrown nail
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| Silver-gray hair
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| Aplasia/Hypoplasia of the 2nd finger
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| Delayed ossification of vertebral epiphysis
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| Retrograde ejaculation
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| Premature ejaculation
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| Abnormal ejaculation
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| Sparse axillary hair
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| Absent vas deferens
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| Abnormal vas deferens morphology
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| Varicocele
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| Mild conductive hearing impairment
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| Postlingual sensorineural hearing impairment
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| Prominent antitragus
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| Abnormally prominent line of Schwalbe
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| Congenital conductive hearing impairment
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| Retarded ejaculation
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| Anisocytosis
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| Almond-shaped palpebral fissure
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| True anophthalmia
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| Abnormality of the lacrimal punctum
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| Profound sensorineural hearing impairment
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| Upbeat nystagmus
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| Childhood onset sensorineural hearing impairment
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| Nocturnal hypoventilation
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| Abnormality of small intestinal villus morphology
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| Villous atrophy
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| Nasogastric tube feeding in infancy
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| Gastrostomy tube feeding in infancy
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| Advanced pneumatization of the mastoid process
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| 2-4 finger syndactyly
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| 1-5 finger syndactyly
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| 1-4 finger syndactyly
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| 1-3 finger syndactyly
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| 4-5 finger syndactyly
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| 1-2 finger syndactyly
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| Hypergammaglobulinemia
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| Abnormal immunoglobulin level
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| Total cataract
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| Asymmetry of the ears
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| Congenital diaphragmatic hernia
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| Renal cortical cysts
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| Narrow chest
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| Short ribs
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| Abnormality of the ribs
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| Glandular hypospadias
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| Delayed puberty
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| Hematuria
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| Hypothyroidism
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| Abnormality of the thyroid gland
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| Abnormality of the urethra
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| IgA deposition in the glomerulus
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| Hyperinsulinemic hypoglycemia
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| Growth hormone deficiency
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| Renal steatosis
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| Oligospermia
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| Hypoparathyroidism
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| Abnormality of the parathyroid gland
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| Abnormality of the epiphysis of the proximal phalanx of the 4th finger
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| Abnormality of the epiphysis of the distal phalanx of the 4th finger
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| Broad distal phalanx of the 5th finger
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| Bullet-shaped distal phalanx of the 5th finger
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| Osteolytic defects of the distal phalanx of the 5th finger
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| Patchy sclerosis of the distal phalanx of the 5th finger
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| Distal/middle symphalangism of 5th finger
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| Triangular shaped distal phalanx of the 5th finger
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| Aplasia of the distal phalanx of the 5th finger
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| Abnormality of the epiphysis of the middle phalanx of the 4th finger
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| Increased upper to lower segment ratio
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| Eyelid apraxia
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| Stellate iris
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| Thick lower lip vermilion
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| Abnormality of lower lip
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| Cleft palate
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| Recurrent urinary tract infections
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| Abnormality of upper lip
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| Submucous cleft hard palate
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| Microglossia
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| Abnormality of the uvula
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| Enlargement of the distal femoral epiphysis
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| Radioulnar dislocation
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| Shortening of the tibia
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| Disproportionate prominence of the femoral medial condyle
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| Hypoplasia of proximal radius
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| Trapezoidal distal femoral condyles
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| Dysplastic radii
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| Metaphyseal abnormalities of distal and proximal femurs
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| Retinal astrocytic hamartoma
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| Peripheral retinal avascularization
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| EEG with continuous slow activity
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| Bone marrow hypocellularity
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| Spontaneous hemolytic crises
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| Macrocytic hemolytic disease
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| Reduced kininogen activity
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| Lymphoid leukemia
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