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256550
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NEURAMINIDASE DEFICIENCY
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Neoplasms
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
Dysostoses
Craniofacial Dysostosis
Bone Diseases, Metabolic
Mucolipidoses
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Craniofacial Dysostosis
Digestive System Diseases
Gastrointestinal Diseases
Intestinal Diseases
Malabsorption Syndromes
Lactose Intolerance
Otorhinolaryngologic Diseases
Ear Diseases
Hearing Disorders
Hearing Loss
Deafness
Nervous System Diseases
Autoimmune Diseases of the Nervous System
Demyelinating Autoimmune Diseases, CNS
Diffuse Cerebral Sclerosis of Schilder
Central Nervous System Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gangliosidoses
Gaucher Disease
Cerebellar Diseases
Cerebellar Ataxia
Dementia
Diffuse Cerebral Sclerosis of Schilder
Epilepsy
Epilepsies, Myoclonic
Seizures
Leukoencephalopathies
Demyelinating Autoimmune Diseases, CNS
Diffuse Cerebral Sclerosis of Schilder
Leukoencephalopathies
Demyelinating Autoimmune Diseases, CNS
Diffuse Cerebral Sclerosis of Schilder
Demyelinating Diseases
Demyelinating Autoimmune Diseases, CNS
Diffuse Cerebral Sclerosis of Schilder
Neurologic Manifestations
Dyskinesias
Ataxia
Cerebellar Ataxia
Myoclonus
Neurobehavioral Manifestations
Intellectual Disability
Reflex, Abnormal
Seizures
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Vision Disorders
Neuromuscular Diseases
Peripheral Nervous System Diseases
Eye Diseases
Lens Diseases
Cataract
Retinal Diseases
Retinal Degeneration
Macular Degeneration
Vision Disorders
Male Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Adrenogenital Syndrome
Adrenal Hyperplasia, Congenital
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Adrenogenital Syndrome
Adrenal Hyperplasia, Congenital
Pregnancy Complications
Abortion, Spontaneous
Fetal Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Craniofacial Dysostosis
Urogenital Abnormalities
Disorders of Sex Development
Adrenogenital Syndrome
Adrenal Hyperplasia, Congenital
Fetal Diseases
Genetic Diseases, Inborn
Adrenal Hyperplasia, Congenital
Dwarfism
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gangliosidoses
Gaucher Disease
Carbohydrate Metabolism, Inborn Errors
Lactose Intolerance
Mucolipidoses
Mucopolysaccharidoses
Mucopolysaccharidosis I
Lipid Metabolism, Inborn Errors
Lipidoses
Sphingolipidoses
Gangliosidoses
Gaucher Disease
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gangliosidoses
Gaucher Disease
Mucopolysaccharidoses
Mucopolysaccharidosis I
Steroid Metabolism, Inborn Errors
Adrenal Hyperplasia, Congenital
Infant, Newborn, Diseases
Skin and Connective Tissue Diseases
Connective Tissue Diseases
Mucinoses
Mucopolysaccharidoses
Mucopolysaccharidosis I
Skin Diseases
Nutritional and Metabolic Diseases
Metabolic Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gangliosidoses
Gaucher Disease
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lipidoses
Sphingolipidoses
Gangliosidoses
Gaucher Disease
Malabsorption Syndromes
Lactose Intolerance
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gangliosidoses
Gaucher Disease
Carbohydrate Metabolism, Inborn Errors
Lactose Intolerance
Mucolipidoses
Mucopolysaccharidoses
Mucopolysaccharidosis I
Lipid Metabolism, Inborn Errors
Lipidoses
Sphingolipidoses
Gangliosidoses
Gaucher Disease
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Mucolipidoses
Sphingolipidoses
Gangliosidoses
Gaucher Disease
Mucopolysaccharidoses
Mucopolysaccharidosis I
Steroid Metabolism, Inborn Errors
Adrenal Hyperplasia, Congenital
Endocrine System Diseases
Adrenal Gland Diseases
Adrenal Hyperplasia, Congenital
Dwarfism
Gonadal Disorders
Disorders of Sex Development
Adrenogenital Syndrome
Adrenal Hyperplasia, Congenital
Immune System Diseases
Autoimmune Diseases
Autoimmune Diseases of the Nervous System
Demyelinating Autoimmune Diseases, CNS
Diffuse Cerebral Sclerosis of Schilder
Immunologic Deficiency Syndromes
Animal Diseases
Disease Models, Animal
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Ascites
Chromosome Aberrations
Aneuploidy
Monosomy
Chromosome Deletion
Disease
Syndrome
Disease Attributes
Disease Progression
Signs and Symptoms
Neurologic Manifestations
Dyskinesias
Ataxia
Cerebellar Ataxia
Myoclonus
Neurobehavioral Manifestations
Intellectual Disability
Reflex, Abnormal
Seizures
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Vision Disorders
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