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255800
SJS1
SCHWARTZ-JAMPEL SYNDROME, TYPE 1
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Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
Osteochondrodysplasias
Osteochondritis
Spinal Diseases
Spinal Curvatures
Kyphosis
Lordosis
Scoliosis
Cartilage Diseases
Osteochondritis
Jaw Diseases
Jaw Abnormalities
Micrognathism
Joint Diseases
Contracture
Hip Dislocation, Congenital
Muscular Diseases
Contracture
Muscular Disorders, Atrophic
Muscular Dystrophies
Myotonic Dystrophy
Myopathies, Structural, Congenital
Myotonic Disorders
Myotonia Congenita
Myotonic Dystrophy
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Micrognathism
Hip Dislocation, Congenital
Digestive System Diseases
Gastrointestinal Diseases
Esophageal Diseases
Deglutition Disorders
Stomatognathic Diseases
Jaw Diseases
Jaw Abnormalities
Micrognathism
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Micrognathism
Tooth Abnormalities
Anodontia
Tooth Diseases
Malocclusion
Tooth Abnormalities
Anodontia
Respiratory Tract Diseases
Respiration Disorders
Apnea
Sleep Apnea Syndromes
Respiratory Insufficiency
Otorhinolaryngologic Diseases
Pharyngeal Diseases
Deglutition Disorders
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Myotonia Congenita
Myotonic Dystrophy
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Neuromuscular Manifestations
Muscle Hypotonia
Myotonia
Neuromuscular Diseases
Muscular Diseases
Muscular Disorders, Atrophic
Muscular Dystrophies
Myotonic Dystrophy
Myopathies, Structural, Congenital
Myotonic Disorders
Myotonia Congenita
Myotonic Dystrophy
Peripheral Nervous System Diseases
Mononeuropathies
Median Neuropathy
Carpal Tunnel Syndrome
Nerve Compression Syndromes
Carpal Tunnel Syndrome
Sleep Disorders
Dyssomnias
Sleep Disorders, Intrinsic
Sleep Apnea Syndromes
Eye Diseases
Eye Abnormalities
Eye Manifestations
Eyelid Diseases
Blepharoptosis
Blepharospasm
Male Urogenital Diseases
Genital Diseases, Male
Penile Diseases
Phimosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Chromosome Disorders
Eye Abnormalities
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Micrognathism
Hip Dislocation, Congenital
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Micrognathism
Tooth Abnormalities
Anodontia
Genetic Diseases, Inborn
Chromosome Disorders
Dwarfism
Heredodegenerative Disorders, Nervous System
Myotonia Congenita
Myotonic Dystrophy
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Mucopolysaccharidoses
Mucopolysaccharidosis IV
Lysosomal Storage Diseases
Mucopolysaccharidoses
Mucopolysaccharidosis IV
Muscular Dystrophies
Myotonic Dystrophy
Skin and Connective Tissue Diseases
Connective Tissue Diseases
Cartilage Diseases
Osteochondritis
Mucinoses
Mucopolysaccharidoses
Mucopolysaccharidosis IV
Skin Diseases
Sweat Gland Diseases
Hypohidrosis
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Mucopolysaccharidoses
Mucopolysaccharidosis IV
Lysosomal Storage Diseases
Mucopolysaccharidoses
Mucopolysaccharidosis IV
Endocrine System Diseases
Dwarfism
Animal Diseases
Disease Models, Animal
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Hypertrophy
Pathologic Processes
Chromosome Aberrations
Disease
Syndrome
Disease Attributes
Disease Progression
Growth Disorders
Postoperative Complications
Malignant Hyperthermia
Signs and Symptoms
Body Temperature Changes
Fever
Eye Manifestations
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Neuromuscular Manifestations
Muscle Hypotonia
Myotonia
Wounds and Injuries
Fractures, Bone
Fractures, Spontaneous
Sprains and Strains
Cumulative Trauma Disorders
Carpal Tunnel Syndrome
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