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243800
JBS
JOHANSON-BLIZZARD SYNDROME
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Neoplasms
Hamartoma
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
Congenital Hypothyroidism
Bone Diseases, Endocrine
Congenital Hypothyroidism
Hand Deformities
Hand Deformities, Congenital
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
Microcephaly
Limb Deformities, Congenital
Upper Extremity Deformities, Congenital
Hand Deformities, Congenital
Digestive System Diseases
Digestive System Abnormalities
Anus, Imperforate
Gastrointestinal Diseases
Intestinal Diseases
Malabsorption Syndromes
Pancreatic Diseases
Exocrine Pancreatic Insufficiency
Stomatognathic Diseases
Mouth Diseases
Tongue Diseases
Macroglossia
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Tooth Abnormalities
Tooth Diseases
Tooth Abnormalities
Respiratory Tract Diseases
Bronchial Diseases
Bronchopneumonia
Lung Diseases
Pneumonia
Bronchopneumonia
Nose Diseases
Nose Deformities, Acquired
Respiratory Tract Infections
Pneumonia
Bronchopneumonia
Otorhinolaryngologic Diseases
Ear Diseases
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Bilateral
Nose Diseases
Nose Deformities, Acquired
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Hypothalamic Diseases
Pituitary Diseases
Hypopituitarism
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Psychomotor Disorders
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Bilateral
Cardiovascular Diseases
Heart Diseases
Cardiomegaly
Hemic and Lymphatic Diseases
Hematologic Diseases
Anemia
Blood Protein Disorders
Hypoproteinemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Ectodermal Dysplasia
Chromosome Disorders
Digestive System Abnormalities
Anus, Imperforate
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
Microcephaly
Limb Deformities, Congenital
Hand Deformities, Congenital
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
Situs Inversus
Skin Abnormalities
Ectodermal Dysplasia
Stomatognathic System Abnormalities
Maxillofacial Abnormalities
Tooth Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
Dwarfism
Congenital Hypothyroidism
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Skin Diseases, Genetic
Ectodermal Dysplasia
Skin and Connective Tissue Diseases
Skin Diseases
Skin Abnormalities
Ectodermal Dysplasia
Skin Diseases, Genetic
Ectodermal Dysplasia
Nutritional and Metabolic Diseases
Metabolic Diseases
Glucose Metabolism Disorders
Diabetes Mellitus
Diabetes Mellitus, Type 1
Hyperinsulinism
Insulin Resistance
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Malabsorption Syndromes
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Nutrition Disorders
Malnutrition
Deficiency Diseases
Protein Deficiency
Protein-Energy Malnutrition
Endocrine System Diseases
Diabetes Mellitus
Diabetes Mellitus, Type 1
Dwarfism
Congenital Hypothyroidism
Pituitary Diseases
Hypopituitarism
Thyroid Diseases
Hypothyroidism
Congenital Hypothyroidism
Immune System Diseases
Autoimmune Diseases
Diabetes Mellitus, Type 1
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Hypertrophy
Cardiomegaly
Pathologic Processes
Chromosome Aberrations
Disease
Syndrome
Disease Attributes
Chronic Disease
Growth Disorders
Signs and Symptoms
Body Weight
Birth Weight
Edema
Failure to Thrive
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Psychomotor Disorders
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Bilateral
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