18001 to 18100 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Contiguous Gene Syndrome Involving Deletion of 2.63 Mb on 5q12
• Thyroid Hormone Deficiency
• Lymphocyte Apoptosis Impaired
• Immunoglobulin Increased
• Deposition of IgG and Complement Seen on Renal Biopsy
• Other Sensory Modalities May be Normal or Diminished
• Variable Autonomic Dysfunction
• Elongated Hallux
• Hypoplasia of the Posterior Corpus Callosum
• Mutation in the PIK3CD Gene
• Abscess Formation
• Class-Switched Memory B Cells Decreased (CD19+CD27+IgD-)
• Circulating Transitional B Cells Increased - CD19+ CD38+ IGM+
• Total B Cells (CD19+) Decreased
• Long-Term Memory CD8+ T Cells Decreased
• Effector CD8+ T Cells Increased
• Low Levels of Antibodies to S Pneumoniae H Influenzae Type B
• Poor T Cell Mitogen Response
• Susceptibility to B Cell Lymphoma Increased
• Lymphoid Nodules on Mucosal Surfaces
• Onset of Neuromuscular Symptoms between 6 Months and 1 Year of Age
• Onset of Hemolytic Anemia Shortly after Birth
• Mutation in the Triosephosphate Isomerase 1 Gene
• Activity of Triosephosphate Isomerase Decreased
• Dihydroxyacetone Phosphate in Tissues and Red Cells Increased
• Anterior Horn Cell Impairment
• Lower Motor Neuron Symptoms
• Progressive Neuromuscular Disturbances
• Muscle Pain after Exercise
• Possibly Death in Late Childhood
• Decreased T Cell Proliferative Response to Mitogens
• Impaired B-Cell Differentiation
• Mucocutaneous-Immunodeficiency Syndrome Possibly Prominent
• Immunoglobulin Levels Low to Normal
• Post Vaccination Varicella
• Invariant NKT Cells Decreased
• Postnatal Growth Failure
• Hypocalcemic Tetany
• Onset at Age 5-20 Years
• Muscle Biopsy Shows Neurogenic Angulated Fibers
• Onion Bulb Formation
• Mutation in the Protein O Mannose Kinase Gene
• Secondary Loss of Merosin and Desmin
• Defective Glycosylation of Alpha Dystroglycan Seen on Biopsy
• Progressive Muscle Weakness and Atrophy
• Agyria
• Brain Stem Hypoplasia
• Mutation in the Solute Carrier Family 25 Member 1 Gene
• Mild Extraocular Muscle Weakness
• Small Endplate
• Small or Absent Axon Terminals
• Type 2 Fiber Atrophy Seen on Muscle Biopsy
• Muscle Weakness May Affect Upper Limbs
• Caused by Mutation in the Beta-1 Catenin Gene
• Full Nasal Tip
• Progressive Spastic Diplegia
• Hypoplastic Labia Majora
• Prevalence among the Finnish Increased
• Onset of Visual Loss in the First Decade
• Mitochondrial Respiratory Activities Decreased
• Mitochondrial Vacuolization Seen on Muscle Biopsy
• Muscle Biopsy Shows Disorganized Myofilaments
• Sarcomere Disappearance Seen on Muscle Biopsy
• Small Angulated Muscle Fibers Seen on Muscle Biopsy
• Deep Sensory Impairment Mild to Moderate
• Muscle Atrophy in Distal Forearm and Hands
• Weakness of Distal Lower Limbs
• Caused by Mutation in the Ceramide Synthase 3 Gene
• Rapidly Progressive Deterioration
• Mutation in the ADAR Gene
• Upregulation of Alpha-Interferon-Stimulated Genes
• Signal Changes in the Caudate and Putamen
• Severe Dystonia in all Limbs
• Possibly Secreted Mutant Leptin Is Biologically Inactive
• Mutation in the LEP Gene
• No Beard
• T Cell Hyporesponsiveness
• Number of Naive T-Cells Reduced
• Marked Reduction in CD4+ / CD8+ Ratio
• Increase in B Cells
• Increase in CD8+ T Cells
• Reduced Number of CT4+ T Cells
• Frequent Infections in Childhood
• Early-Onset Severe Obesity
• Sympathetic System Dysfunction
• Sex Hormone Binding Globulin Levels Low
• Hypothalamic Hypogonadism
• Leptin Levels High
• Leptin Levels Low
• Variable Ictal Semiology
• Ventricular Septal Hypertrophy
• Caused by Mutation in the Keratin 74 Gene
• Respiratory Insufficiency Requiring Mechanical Ventilation
• Sural Nerve Biopsy Shows Lack of Myelinated Fibers
• Intractable Seizures
• Increased Susceptibility to Malignant Hyperthermia
• Caused by Mutation in the Phosphoglucomutase-1 Gene
• Decreased Phosphoglucomutase 1 Activity (<10% of Normal Value)
• Glycogen Accumulation Seen on Biopsy
• Phenotype Identical to that of LCCS3