23601 to 23700 most common queries

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

• Hypoplastic Flat Nails
• Mild Epidermolytic Hyperkeratosis
• Hard Scaly Skin
• Bilateral Partial Cutaneous Syndactyly
• Mutation in the YARS2 Gene
• Axonal Polyneuropathy
• Contiguous Gene Syndrome due to Gene Duplication
• Mutation in the G Protein Signaling Modulator 2 Gene
• Caused by Mutation in the Transmembrane Protein 67 Gene
• Mild Cortical Atrophy
• Caused by Deletion of 3.7 Mb on Chromosome 6q13-q14
• Onset of Calf Hypotrophy May Occur Earlier
• Onset of Muscle Weakness in Fifth Decade
• Rarely Centralized Nuclei
• Muscle Biopsy Shows Abnormal Fiber Size and Variation
• EMG Shows Myopathic Pattern
• Hip Girdle Muscle Atrophy
• Lens-to-Eye Volume Ratio Increased
• Caused by a 1.37 Mb Deletion on 4q21 Encompassing 5 Genes
• Cerebral Ventricular Dilatation
• Speech Absent or Delayed
• Cytoplasmic Glycogen Depletion
• Central Vacuoles Containing PAS-Positive Material
• Hypertrophic Cardiomyocytes
• Marked Predominance of Type 1 Muscle Fibers
• Glycogen Depletion in Skeletal Muscle
• Onset in First Month of Life
• Mutation in the Lambda-Like Immunoglobulin Polypeptide 1 Gene
• 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
• 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 Irresponsiveness
• Pronounced Eyebrows
• Caused by a 1 75 Mb Deletion at 15Q24
• Medially Broad Eyebrows that Taper Laterally
• Abnormal Insertion of the Toes
• 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
• Autoimmune Enteropathy
• Below 3rd Percentile
• Autoantibody-Positive Hypothyroidism
• Some Patients Require Insulin for Treatment