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COFFIN-LOWRY SYNDROME
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Neoplasms
Cysts
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
Dysostoses
Craniofacial Dysostosis
Hypertelorism
Orofaciodigital Syndromes
Rubinstein-Taybi Syndrome
Funnel Chest
Osteochondrodysplasias
Hyperostosis Frontalis Interna
Hyperostosis
Hyperostosis Frontalis Interna
Spinal Diseases
Spinal Curvatures
Kyphosis
Scoliosis
Hand Deformities
Hand Deformities, Congenital
Muscular Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Craniofacial Dysostosis
Hypertelorism
Orofaciodigital Syndromes
Rubinstein-Taybi Syndrome
Funnel Chest
Limb Deformities, Congenital
Upper Extremity Deformities, Congenital
Hand Deformities, Congenital
Stomatognathic Diseases
Mouth Diseases
Periodontal Diseases
Tooth Loss
Tooth Diseases
Tooth Loss
Otorhinolaryngologic Diseases
Ear Diseases
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Sensorineural
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Epilepsy
Seizures
Hydrocephalus
Intracranial Hypertension
Hydrocephalus
Movement Disorders
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Rett Syndrome
Neurologic Manifestations
Neurobehavioral Manifestations
Consciousness Disorders
Unconsciousness
Syncope
Memory Disorders
Intellectual Disability
Mental Retardation, X-Linked
Coffin-Lowry Syndrome
Rett Syndrome
Rubinstein-Taybi Syndrome
Seizures
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Sensorineural
Neuromuscular Diseases
Muscular Diseases
Sleep Disorders
Dyssomnias
Sleep Disorders, Intrinsic
Disorders of Excessive Somnolence
Narcolepsy
Cataplexy
Eye Diseases
Retinal Diseases
Retinal Degeneration
Male Urogenital Diseases
Urologic Diseases
Kidney Diseases
Renal Tubular Transport, Inborn Errors
Hypophosphatemia, Familial
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urologic Diseases
Kidney Diseases
Renal Tubular Transport, Inborn Errors
Hypophosphatemia, Familial
Pregnancy Complications
Puerperal Disorders
Cardiovascular Diseases
Cardiovascular Abnormalities
Heart Defects, Congenital
Heart Septal Defects
Heart Septal Defects, Atrial
Heart Diseases
Arrhythmias, Cardiac
Tachycardia
Tachycardia, Ventricular
Cardiomegaly
Cardiomyopathy, Dilated
Cardiomyopathies
Cardiomyopathy, Dilated
Heart Defects, Congenital
Heart Septal Defects
Heart Septal Defects, Atrial
Heart Valve Diseases
Mitral Valve Insufficiency
Ventricular Dysfunction
Ventricular Dysfunction, Left
Hemic and Lymphatic Diseases
Hematologic Diseases
Anemia
Anemia, Hemolytic
Anemia, Hemolytic, Congenital
Thalassemia
alpha-Thalassemia
Hemoglobinopathies
Thalassemia
alpha-Thalassemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Orofaciodigital Syndromes
Rubinstein-Taybi Syndrome
Cardiovascular Abnormalities
Heart Defects, Congenital
Heart Septal Defects
Heart Septal Defects, Atrial
Chromosome Disorders
Rubinstein-Taybi Syndrome
Sex Chromosome Disorders
Orofaciodigital Syndromes
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Craniofacial Dysostosis
Hypertelorism
Orofaciodigital Syndromes
Rubinstein-Taybi Syndrome
Funnel Chest
Limb Deformities, Congenital
Hand Deformities, Congenital
Genetic Diseases, Inborn
Anemia, Hemolytic, Congenital
Thalassemia
alpha-Thalassemia
Chromosome Disorders
Rubinstein-Taybi Syndrome
Sex Chromosome Disorders
Orofaciodigital Syndromes
Dwarfism
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
Coffin-Lowry Syndrome
Rett Syndrome
Hemoglobinopathies
Thalassemia
alpha-Thalassemia
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Coffin-Lowry Syndrome
Rett Syndrome
Rett Syndrome
Metabolism, Inborn Errors
Metal Metabolism, Inborn Errors
Hypophosphatemia, Familial
Renal Tubular Transport, Inborn Errors
Hypophosphatemia, Familial
Skin Diseases, Genetic
Darier Disease
Skin and Connective Tissue Diseases
Skin Diseases
Keratosis
Darier Disease
Skin Diseases, Genetic
Darier Disease
Nutritional and Metabolic Diseases
Metabolic Diseases
Calcium Metabolism Disorders
Calcinosis
Metabolism, Inborn Errors
Metal Metabolism, Inborn Errors
Hypophosphatemia, Familial
Renal Tubular Transport, Inborn Errors
Hypophosphatemia, Familial
Phosphorus Metabolism Disorders
Hypophosphatemia
Hypophosphatemia, Familial
Endocrine System Diseases
Dwarfism
Animal Diseases
Disease Models, Animal
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Cysts
Pathologic Processes
Arrhythmias, Cardiac
Tachycardia
Tachycardia, Ventricular
Chromosome Aberrations
Aneuploidy
Monosomy
Chromosome Deletion
Sex Chromosome Aberrations
Disease
Syndrome
Disease Attributes
Facies
Growth Disorders
Signs and Symptoms
Neurologic Manifestations
Neurobehavioral Manifestations
Consciousness Disorders
Unconsciousness
Syncope
Memory Disorders
Intellectual Disability
Seizures
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Sensorineural
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