Sitemap | Symptoma 28201 to 28300 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. B Cells Lack Surface CD19 and CD81 Expression Glomerulonephritis Autoimmune Defective Antibody Production Particularly T Cell Independent Surface Expression of CD20 by B Cells Decreased Serum and Mucosal IgA Normal Numbers of Transitional B Cells Normal or Increased Numbers of Mature B Cells Decreased Mutation in the CD191 Gene IgM Decreased or Normal Low IgG and IgA B Cells Lack Surface CD19 Expression Numbers of Memory B Cells Reduced Postinfectious Glomerulonephritis Females Tend to Have Earlier Onset Mutation in the Gap Junction Protein Gamma 2 Gene Lymphedema of the Hands Mutation in the SPTAN1 Gene No Visual Attention Widespread Brain Atrophy Diffuse Hypomyelination Lack of Visual Attention Intractable Tonic Seizures A Mutation in the LBR Gene Has Been Identified in 1 Patient Tight Shiny Skin over the Forearms and Hands Generalized Darkening of the Skin Numbness Pain and Tingling of the Fingers in Response to Cold Blanching of Fingers in Response to Cold Telangiectasia Particularly of the Fingerpads and Lips Serum Mitochondrial Autoantibodies Mild Steatorrhea Destruction of the Limiting Plate Absence of Cholangioles Duplication of 186-260 kb on 16p13.3 Proximally Placed Toes Intelligence Low to Normal Deletion of 3.0-30.0 Mb on 14q11-q22 Triangular Medial Eyebrows with Distal Tapering Lack of Fixation Minimal or Lack of Speech Onset of Seizures after Age 3 Months Most Patients Do Not Learn to Sit or Walk Mutation in the FOXG1 Gene Slow Postnatal Growth White Matter Volume Reduced Multifocal Pattern with Spikes and Sharp-Waves Jerky Limb Movements Developmental Regression before Age 6 Months Neonatal Irritability Neonatal Irresponsiveness Pronounced Eyebrows Caused by a 1 75 Mb Deletion at 15Q24 Medially Broad Eyebrows that Taper Laterally Abnormal Insertion of the Toes Proximally Implanted Thumb Variable Digital Abnormalities Mutation in the Polynucleotide Kinase and 3 Prime Phosphatase Gene Infantile Onset Refractory Seizures Mutation in the C Homolog of the S Cerevisiae RAD51 Gene Cellular Arrest at G2 of the Cell Cycle Defect in DNA Repair Long, Slim Fingers Radial Anomalies Mutation in the SLC34A1 Gene Fractional Excretion of Uric Acid Increased Mild Urinary Excretion of Low Molecular Weight Proteins Mild to Moderate Renal Failure Generalized Proximal Tubulopathy Mutation in the Homolog of the Mouse Itchy Gene Fatal Respiratory Failure Severe Chronic Lung Disease Flattened Midface Autoimmune Enteropathy Below 3rd Percentile Global Hypotonia Autoantibody-Positive Hypothyroidism Some Patients Require Insulin for Treatment Gaze-Evoked Nystagmus Mild Hyperreflexia in Lower Limbs Gait and Appendicular Ataxia Occasionally Low-Dose Insulin Required Diagnosed in Second or Third Decade of Life Caused by Mutation in the Insulin Gene Average Age at Onset 16.6 Years Mild Weakness of the Small Hand Muscles Favorable Management with the Fibrinolysis Inhibitors Rarely Spontaneous Bleeding Mutation in the Serpin Peptidase Inhibitor Clade E Member 1 Gene Euglobin Lysis Time Decreased Bleeding Defect due to Decreased Plasminogen Activator Inhibitor 1 Hematomas after Trauma or Injury Caused by Mutation in the Alanyl-tRNA-Synthetase Gene Variable Sensorineural Deafness Lower Limbs Most Affected Mutation in the LTBP4 Gene Plantar Crease Dilatation and Tortuosity of Intestinal Vessels Diaphragm Hernia or Eventration Hypertrophic Dilated Cardiomyopathy Skeletal Muscle Biopsy Showed Mitochondrial Complex I Deficiency Arachnoid Cysts
