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| Late-onset spinocerebellar degeneration
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| Bulbar signs
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| Congenital peripheral neuropathy
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| Pulmonary lymphangiomyomatosis
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| Hepatic encephalopathy
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| Increased cup-to-disc ratio
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| Lymphatic vessel neoplasm
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| Periventricular white matter hypodensities
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| Abnormality of the optic disc
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| Absent ossification of thoracic vertebral bodies
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| Kinked brainstem
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| Abnormal intramembranous ossification
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| Acute leukemia
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| Streaks of hyperkeratosis along each finger onto the palm
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| Multifocal cerebral white matter abnormalities
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| Generalized ichthyosis
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| Follicular hyperkeratosis
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| Poor hand-eye coordination
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| Diffuse slow skin atrophy
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| Abnormality of the ankles
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| Enlargement of the ankles
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| Short long bones
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| Mesomelia
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| Metaphyseal irregularity
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| Hypoplasia of the ulna
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| Bowing of limbs due to multiple fractures
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| Enlargement of the wrists
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| Metaphyseal cupping
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| Absent humerus
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| Radial bowing
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| Hypoplastic left atrium
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| Hypoplastic frontal sinuses
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| Abnormal atrioventricular conduction
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| Thick skull base
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| Defective lymphocyte apoptosis
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| Chronic noninfectious lymphadenopathy
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| Abnormality of the lymph nodes
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| Lymph node hypoplasia
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| Severe postnatal growth retardation
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| Intermittent episodes of respiratory insufficiency due to muscle weakness
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| Reduction of neutrophil motility
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| Renal hypoplasia/aplasia
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| Cervical platyspondyly
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| Anterior vertebral fusion
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| Congenital nephrotic syndrome
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| Respiratory failure requiring assisted ventilation
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| Generalized hypertrichosis
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| Episodic hypoventilation
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| Scarring alopecia of scalp
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| Partial vaginal septum
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| Mitochondrial propionyl-CoA carboxylase (PCC) defect
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| Absence of stomach bubble on fetal sonography
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| Low alkaline phosphatase
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| Increased serum ferritin
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| Cystathioninemia
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| Abnormality of mitochondrial metabolism
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| Extralobar sequestration
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| Broad diaphyses of the upper limbs
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| Brittle scalp hair
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| Premature graying of body hair
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| Persistence of primary teeth
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| Abnormality of the distal phalanx of the 5th toe
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| Denervation of the diaphragm
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| Cortical irregularity (humeral)
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| Abnormal ossification involving the femoral head and neck
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| Abnormal pelvis bone ossification
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| Abnormal ossification of the pubic bone
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| Aplasia/Hypoplasia of the pubic bone
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| Aplasia/Hypoplasia involving the pelvis
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| Anterior open-bite malocclusion
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| Submucous cleft lip
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| Thick anterior alveolar ridges
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| Laterally deviated terminal thumb phalanx
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| Duplication of the proximal phalanx of the 2nd toe
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| Bowed humerus
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| Double inlet to single ventricle with two atrioventricular valves
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| Double inlet to single ventricle with common atrioventricular orifice
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| Humeroulnar synostosis
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| Double inlet left ventricle
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| Double inlet atrioventricular connection
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| Double inlet to single ventricle of indeterminate morphology
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| Double inlet right ventricle
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| Right sided atrium to left ventricle and absent left sided atrioventricular connection
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| Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection
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| Discordant atrioventricular connection
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| Patchy sclerosis of the middle phalanx of the 2nd toe
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| Abnormality of the external nose
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| Abnormality of the nasal bone
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| Abnormality of monovalent inorganic cation homeostasis
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| Abnormality of sodium homeostasis
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| Abnormality of nucleobase metabolism
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| Abnormality of xanthine metabolism
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| Xanthinuria
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| Abnormality of the upper urinary tract
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| Abnormality of the lower urinary tract
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| Abnormality of the nasal skeleton
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| Abnormal muscle fiber protein expression
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| Behavioral abnormality
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| Psychosis
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| Unerupted tooth
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