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| Ventral shortening of foreskin
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| Delayed social development
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| Abnormal social behavior
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| Chronic fatigue
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| Macule
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| Abnormal protein N-linked glycosylation
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| Hand clenching
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| Hyperextensibility of the finger joints
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| Abnormal protein glycosylation
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| Tapered finger
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| Adducted thumb
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| Oligodactyly (hands)
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| Pulmonary capillary hemangiomatosis
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| Hypertonic dehydration
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| Anteroposteriorly shortened larynx
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| Breathing dysregulation
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| Laryngeal web
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| Progressive inspiratory stridor
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| Decreased pulmonary function
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| Megaloblastic bone marrow
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| Impaired gluconeogenesis
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| Fetal akinesia sequence
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| Recurrent hypoglycemia
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| Abnormality of the fascia
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| Fasciitis
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| Episcleritis
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| Tibiofibular diastasis
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| Scleritis
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| Inflammatory abnormality of the eye
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| Abnormality of calcium-phosphate metabolism
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| Wind-swept deformity of the knees
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| Abnormality of the supraorbital ridges
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| Periorbital edema
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| Hypoplasia of the tooth germ
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| Progressive calcification of costochondral cartilage
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| Flared, irregular rib ends
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| Abnormality of the calf
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| Premature loss of permanent teeth
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| Elbow flexion contracture
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| Precocious costochondral ossification
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| Irregular chondrocostal junctions
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| Transient ischemic attack
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| Midclavicular hypoplasia
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| Hydranencephaly
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| Shovel-shaped maxillary central incisors
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| Resting tremor
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| Anencephaly
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| Vertigo
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| Activating thyroid-stimulating hormone receptor (TSHR) defect
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| Abnormal subcutaneous fat tissue distribution
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| Congenital symmetrical palmoplantar keratosis
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| Hypohidrosis/hyperhidrosis
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| Plantar hyperkeratosis
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| Central nervous system degeneration
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| Abnormality of the radioulnar joints
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| Tetraamelia
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| Dorsal column degeneration
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| Cavitation of the basal ganglia
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| Morning myoclonic jerks
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| Loss of Purkinje cells in the cerebellar vermis
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| Motor axonal neuropathy
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| Delayed CNS myelination
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| Excessive daytime sleepiness
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| Phonophobia
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| Neurodegeneration
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| Cerebral edema
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| Apraxia
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| Intellectual disability, profound
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| Neurofibrillary tangles
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| Complete duplication of the distal phalanx of the 2nd finger
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| Coxa magna
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| Square pelvis
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| Hip contracture
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| Abnormality of the hip bone
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| Visceromegaly
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| Abdominal distention
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| Constricted iliac wings
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| Pelvic exostoses
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| Narrow pelvis
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| Hypoplastic acetabulae
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| Partial duplication of the distal phalanx of the 2nd finger
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| Grammar-specific speech disorder
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| Necrotizing encephalopathy
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| Abnormally shaped carpal bones
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| Periventricular leukomalacia
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| Episodic upper airway obstruction
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| Decreased muscle glycogen content
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| Increased carotid artery intimal medial thickness
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| J wave
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| Autosomal dominant inheritance with maternal imprinting
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| Autosomal dominant inheritance with paternal imprinting
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| Sleep-wake cycle disturbance
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| Dysmyelinating leukodystrophy
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| Dysplasia of second lumbar vertebra
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| Morphological abnormality of the middle ear
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| Hypertrophic auricular cartilage
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| Anterior scalloping of vertebral bodies
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| Increased anterior vertebral height
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| Irregularity of vertebral bodies
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| Biconcave vertebral bodies
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