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266500
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REFSUM DISEASE
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Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Osteochondrodysplasias
Chondrodysplasia Punctata
Chondrodysplasia Punctata, Rhizomelic
Otorhinolaryngologic Diseases
Ear Diseases
Hearing Disorders
Hearing Loss
Deafness
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Peroxisomal Disorders
Refsum Disease
Nervous System Malformations
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Neurologic Manifestations
Dyskinesias
Ataxia
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
Intellectual Disability
Neuromuscular Manifestations
Muscular Atrophy
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Vision Disorders
Neuromuscular Diseases
Peripheral Nervous System Diseases
Neuritis
Polyneuropathies
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Eye Diseases
Eye Diseases, Hereditary
Retinitis Pigmentosa
Lens Diseases
Cataract
Retinal Diseases
Retinal Degeneration
Retinal Dystrophies
Retinitis Pigmentosa
Vision Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Nervous System Malformations
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Genetic Diseases, Inborn
Eye Diseases, Hereditary
Retinitis Pigmentosa
Heredodegenerative Disorders, Nervous System
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Peroxisomal Disorders
Refsum Disease
Lipid Metabolism, Inborn Errors
Peroxisomal Disorders
Chondrodysplasia Punctata, Rhizomelic
Refsum Disease
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Peroxisomal Disorders
Refsum Disease
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Peroxisomal Disorders
Refsum Disease
Lipid Metabolism, Inborn Errors
Peroxisomal Disorders
Chondrodysplasia Punctata, Rhizomelic
Refsum Disease
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Atrophy
Muscular Atrophy
Pathologic Processes
Disease
Syndrome
Signs and Symptoms
Neurologic Manifestations
Dyskinesias
Ataxia
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
Intellectual Disability
Neuromuscular Manifestations
Muscular Atrophy
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Vision Disorders
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