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239400
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HYPERPIPECOLATEMIA
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Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Osteochondrodysplasias
Chondrodysplasia Punctata
Digestive System Diseases
Liver Diseases
Hepatomegaly
Liver Cirrhosis
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
Adrenoleukodystrophy
Peroxisomal Disorders
Adrenoleukodystrophy
Refsum Disease
Leukoencephalopathies
Hereditary Central Nervous System Demyelinating Diseases
Adrenoleukodystrophy
Leukoencephalopathies
Hereditary Central Nervous System Demyelinating Diseases
Adrenoleukodystrophy
Cranial Nerve Diseases
Optic Nerve Diseases
Demyelinating Diseases
Hereditary Central Nervous System Demyelinating Diseases
Adrenoleukodystrophy
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
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Adrenoleukodystrophy
Neuromuscular Manifestations
Muscle Hypotonia
Neuromuscular Diseases
Peripheral Nervous System Diseases
Polyneuropathies
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Eye Diseases
Optic Nerve Diseases
Male Urogenital Diseases
Urologic Diseases
Kidney Diseases
Kidney Diseases, Cystic
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urologic Diseases
Kidney Diseases
Kidney Diseases, Cystic
Hemic and Lymphatic Diseases
Hematologic Diseases
Blood Coagulation Disorders
Blood Coagulation Disorders, Inherited
Hypoprothrombinemias
Coagulation Protein Disorders
Hypoprothrombinemias
Hemorrhagic Disorders
Hypoprothrombinemias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Nervous System Malformations
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Genetic Diseases, Inborn
Blood Coagulation Disorders, Inherited
Hypoprothrombinemias
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
Adrenoleukodystrophy
Heredodegenerative Disorders, Nervous System
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Mental Retardation, X-Linked
Adrenoleukodystrophy
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
Adrenoleukodystrophy
Peroxisomal Disorders
Adrenoleukodystrophy
Refsum Disease
Peroxisomal Disorders
Adrenoleukodystrophy
Refsum Disease
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
Adrenoleukodystrophy
Peroxisomal Disorders
Adrenoleukodystrophy
Refsum Disease
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Hereditary Central Nervous System Demyelinating Diseases
Adrenoleukodystrophy
Peroxisomal Disorders
Adrenoleukodystrophy
Refsum Disease
Peroxisomal Disorders
Adrenoleukodystrophy
Refsum Disease
Endocrine System Diseases
Adrenal Gland Diseases
Adrenal Insufficiency
Adrenoleukodystrophy
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Facial Asymmetry
Hypertrophy
Hepatomegaly
Pathologic Processes
Disease
Syndrome
Hyperbilirubinemia
Jaundice
Signs and Symptoms
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Neuromuscular Manifestations
Muscle Hypotonia
Skin Manifestations
Jaundice
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