39601 to 39700 most common queries

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

• Approximately 0.7 dB Hearing Loss Per Year at All Frequencies
• Progressive Hearing Impairment
• Non-Syndromic Hereditary Hearing Impairment
• Allelic Disorder to Paramyotonia Congenita
• Cold Sensitivity Has Been Reported
• Muscle Weakness Usually Does Not Occur
• Mutation in the Centromeric Protein J Gene
• Caused by Mutation in the CD36 Antigen Gene (CD36)
• Prolonged Bleeding Time - 15 to > 30 Minutes
• Median Platelet Volume 15.5 fl
• Platelet Count Low to Normal (45*10^9/l)
• No Neutrophilic Inclusions
• Variable Bleeding Tendencies
• Posterior Parietal Hair Whorls
• Elbow Dimples
• Absence of Several Ribs
• Genetic Heterogeneity - See Myofibrillar Myopathy Type 3
• Adult Onset (3rd to 4th Decade)
• Juvenile Onset
• Creatine Kinase May Be Normal or Elevated
• Respiratory Muscles May Be Involved
• Distal Muscle Weakness Occurs Later
• Pelvic Girdle Muscle Weakness (Earlier)
• Longer Disease Duration than Creutzfeldt Jakob Disease
• Average Disease Duration of 7 Years
• Rapidly Progressive but Slower than Creutzfeldt Jakob Disease
• Mutation in the PRNP Gene
• Rapid Weight Loss Late in the Disease
• Neurofibrillary Tangles May be Present
• Amyloid-Like Plaques Not Immunoreactive to APP
• Onset Ages 2 to 14 Years
• Male-to-Female Ratio 4:1
• Motor and Vocal Tics
• Subclinical Defect in Pancreatic Exocrine Function
• Fractional Excretion of Uric Acid Decreased
• Abnormal Renal Calyces
• Glomerular Cysts
• Glomerular Tufts
• Enlarged Glomeruli
• Numbers of Glomeruli Decreased
• Abnormal Nephrogenesis
• Vagina Aplasia
• GMS is Goniodysgenesis, Mental Deficiency and Short Stature
• Bone Marrow Aspirate Shows Normal Cellularity and Reticular Fibrosis
• Gray Polymorphonuclear Neutrophils
• Gray to Gray Blue Platelet on Wright-Giemsa Stain
• Large Agranular Platelets
• Platelet Derived Growth Factor Decreased
• Thrombospondin Decreased
• Beta-Thromboglobulin Decreased
• Von Willebrand Factor Decreased
• Platelet Aggregation Response to Collagen and Thrombin Decreased
• Normal Platelet Aggregation Response to Arachidonic Acid
• Prolonged Bleeding Time (10 to >30 Minutes)
• Median Mean Platelet Volume 13 fl
• Large Flattened Vertebrae with Large Pedicles
• Autistic-Like Condition
• Mutation in the Homeobox A13 Gene
• Fused Cuneiforms
• Absent Hallux
• Carpal Bone Ossification Delayed
• Longitudinal Vaginal Septum
• Transient Metabolic Acidosis that Resolves in Infancy
• 4-Hydroxycyclohexylacetic Aciduria (Adults)
• 4-Hydroxyphenylactic Aciduria
• Transient Tyrosinemia (Resolves in Infancy)
• Idionodal Escape Rhythm
• Left Sided Involvement Occurs More Frequently
• Short Mandibular Ramus
• Basilar Kyphosis
• Delayed Teeth Eruption on Ipsilateral Side
• Lip Atrophy
• Loss of Periorbital Fat
• Misshapen Small Ear
• Unilateral Facial Wasting
• Marked Clinical Variability within Families
• Triggered by Minor Head Trauma
• Pulsatile Headache Lasts Hours to Days
• Symptoms Usually Last 30-60 Minutes
• Onset 5-30 Years
• Migraine with Aura
• Impaired Long-Term Verbal Memory
• Contiguous Gene Syndrome due to Deletion of HBA1 and HBA2
• Hb H Inclusions in Erythrocytes
• Subtelomeric Deletion of 16p
• Wide Flat Broad Forehead
• Abnormally Placed Nipples
• Shallow Acetabulum
• Pronounced Coxa Plana
• Irregular Greater Trochanteric Epiphyses
• Coxa Plana
• Irregular Proximal Epiphyseal Line of Femur
• Delayed Appearance - Secondary Ossification Center - Femoral Head
• Widened Proximal Femoral Metaphyses
• Chronic Relapsing Condition
• Apocrine Glands Are Secondarily Involved
• Necrotic Tissue Encapsulated by Epithelial Strands
• Foreign Material Accumulated in the Dermis
• Segmental Rupture of the Follicular Epithelium
• Dermal Contractures