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28201 to 28300 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Mutation in the CD81 Gene
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