33001 to 33100 most common queries

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

• Inferior Rib Flaring
• Widened Subarachnoid Spaces
• Female Carriers May Be Mildly Affected
• Long Straight Nose
• Deep, Sunken Eyes
• Square Prognathic Jaw
• Loss of Ability to Walk within First Decade
• Late Ambulation
• Females: Milder Phenotype, Later Onset of Cardiac Symptoms
• Sudden Death of Affected Females in Fifth Decade
• Mutation in the Lysosome-Associated Membrane Protein 2 Gene
• Cardiomyocytes with Irregular Nuclei
• Hypertrophic Cardiomyocytes (Biopsy)
• Decreased Contractility
• LAMP2 Protein Severely Decreased or Absent
• Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy)
• Noncompaction of the Heart
• Small 3rd and 4th Metacarpals
• Broad Femoral Heads and Necks
• Small Irregular Proximal Femoral Epiphyses
• Absent Mitogenic Response to Staphylococcus Aureus Cowan Antigen
• T-Cell Count Normal
• Normal Lymphocyte Response to Pokeweed Mitogen and Conconavalin a
• Specific Antibody Titers Low
• IgA, IgE, IgG and IgM Normal
• Long Prominent Eyelashes
• Infancy-Onset Short Trunk and Short Stature
• Lower Limb Hypotrophy
• Memory, Attention, Language Limited
• Mean Age of Onset: 20.6 Years
• Thyroid Volume 22-66 ml - Adults
• Progressive Pes Cavus
• Large Eyebrows
• Caused by Mutation in the WAS Gene
• No Eczema
• Mean Platelet Volume Normal
• CD8+ T Cells Increased
• Susceptibility to Infections Start in the First Year of Life
• Rudimentary Adenoids
• Immunoglobulins Decreased or Undetectable
• Plasma Cells Absent in All Organs
• B Lymphocytes in All Organs Absent
• Increased Incidence of Rectosigmoid Cancer
• Mental Retardation - IQ 45-75
• Basal Ganglia Dysfunction
• Age at Onset of Self-Injurious Behavior: 2 Years
• Partial Deficiency of Hypoxanthine Phosphoribosyltransferase
• Associated Anomalies in 70% of Patients
• Onset of Skin Abnormalities at Birth, in Infancy, or Childhood
• A Nonspecific Marker of Somatic Mosaicism
• Chromosomal Mosaicism
• Creatine Increased
• Urine Creatine Increased
• Impaired Creatine Uptake in Fibroblasts
• Unfolded Superior Helices
• Behavioral Changes Consistent with an Autistic Disorder
• Severe Speech and Language Delay
• Small Downslanting Palpebral Fissures
• Coarse Face
• Persistent Bleeding after Injury or Surgery
• Thrombopoietin Elevated
• Morbidity and Mortality in Affected Males Increased
• Trapezoidal Shaped Skull
• Broad, Flat Ribs
• Death within first Year of Life
• Lymph Nodes Are Small and Poorly Developed
• T Lymphocytes Absent
• Natural Killer Cells - Reduced Numbers and Cytotoxicity
• Specific Antibody Production Severely Decreased
• Unilateral Chest Hypoplasia
• Mutation in the Rho Guanine Nucleotide Exchange Factor 6 Gene
• Less Severe Phenotype in Females
• Urine 2-Methyl-3-Hydroxybutyrate Increased
• Activity of 2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase Decreased
• Mutation in the Immunoglobulin Binding Protein 1 Gene
• Simple, Cup-Shaped Ears
• Caused by Mutation in the Oligophrenin 1 Gene
• Long, Tubular Nose
• Marked Infraorbital Creases
• Cerebral Volume Decreased, Especially of the Frontal Lobes
• Retrocerebellar Cysts
• Mild Mental Retardation in Most Female Carriers
• Moderate to Severe Mental Retardation - IQ 40 to 60
• Affected Individuals Remain Ambulatory in Old Age
• Peripheral Nerve Biopsy Normal
• Muscle Biopsy Shows Neurogenic Changes
• Lower Limbs Affected before Upper Limbs
• Caused by Mutation in the Synapsin 1 Gene
• Associated with Mutation in the Neuroligin 3 Gene
• No Peripheral Signs of Hypothyroidism
• Mutation in the MCT8 Gene
• RT3 Decreased
• Triiodothyronine Increased
• Thyroid-Stimulating Hormone Normal or Mildly Increased
• Thyroxine Decreased
• Joint Contractures (Small and Large Joints)
• Flattened Antihelix
• Prominent Antihelices
• Pinna Modeling Anomalies
• Broad Shallow Pectus Excavatum