34001 to 34100 most common queries

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

• Immature Podocytes
• Slow Progression without Marked Disability
• Mutation in the DLX5 Gene
• Activities of Mitochondrial Complexes I, III and IV Decreased
• Scarlet Fever
• Lactate Clearance from Muscle after Exercise Decreased
• No Evidence of Perinatal Infection
• Vasculitis - Particularly of the Capillaries
• Variable Malformations of Cortex
• Urine N,N-Dimethylglycine Elevated
• Neck Weakness upon Flexion
• Affected Infants Die in Neonatal Period
• Bright Copper-Red Coloration of Skin (in Darker Skinned Individuals)
• Downturned Mouth Corners
• Short Trunk - Short Stature < 3rd - 50th Percentile
• Abnormal Auditory Evoked Potential
• Cardiomyopathy Is Not a Feature
• Abnormal Glomeruli (Biopsy)
• Hypoplasia, Fusion and Contractures of Post-Axial Fingers
• Muscle Biopsy Shows Cytochrome C Oxidase Negative Fibers
• Symptoms May Be Induced by Heat
• Pericystic Abnormal Myelination
• N,N-Dimethylglycine Increased
• Nailfold Capillary Tortuosity
• Glioblastoma Multiforme
• Early Onset (at about Age 1 Year)
• Normal Scotopic Responses on Rod Electroretinogram
• Bilobar Right Lung
• Tyrosinase Normal
• Nonspecific Abnormal Visually Evoked Potential
• Mutation in the TINF2 Gene
• Flattened Capital Femoral Epiphyses
• Resting Metabolic Rate Increased
• Replacement of Affected Muscle Tissue with Fatty Tissue
• Aplasia of Single Digital Ray
• Exercise-Induced Muscle Fatigue
• Mutation in the AMT Gene
• MRI Shows Swelling of the Deep White Matter
• Anterior Temporal Lobe Subcortical Cysts
• Variable Degree of T Cell Dysfunction
• Rotator Cuff Tear
• Eschar Formation
• Dilution of Color of Iris
• Metaphyseal Defects
• Hip Abduction Decreased
• Constricted Iliac Base
• Cerebrovascular Hemorrhagic Attacks
• Psychomotor Development Normal
• Adiponectin Decreased
• Central Scotoma on Goldmann Visual Field
• Muscle Cramps with Exercise
• Sparing of Central White Matter Structures
• Weakness of the Muscles in the Anterior Compartment of the Lower Leg
• Mutation in the Glycine Dehydrogenase Gene
• Normal T Cell Numbers
• Retinal Pigment Present
• Glenoid Labrum Tear
• Lack of Head or Postural Control
• Caused by Mutation in the Melanophilin Gene
• Small Thoracic Cavity
• Acral Violaceous Plaques and Nodules
• Poorly Formed Pinnae
• Normal Adipose Tissue in the Face
• Lactic Acidosis May Be Mild
• Protan Defect (Color Vision Testing)
• Central Macular Atrophy
• Interfamilial and Intrafamilial Clinical Heterogeneity
• Abnormal Eye Movement
• Multifocal White Matter Lesions
• CSF/Plasma Glycine Ratio Elevated
• Red Reflex on Transillumination of the Iris
• Glanzmann Thrombasthenia
• Mutation in the MYO5A Gene
• Amputation Resulting from Acral Necrosis
• Tortuous Retinal Arterioles
• 95% of Cases Are Sporadic
• Tritan Defect on Color Vision Testing
• Mutation in the DLAT Gene
• Secondary Pancreatitis
• Two Unrelated Families Have Been Reported
• Thickened Interlobular Septae Seen on CT
• Nerve Biopsy Often Consistent with Axonal Neuropathy
• Most Patients Achieve Walking with Aid
• Founder Effect in Irish Travelers
• Sweating Problems
• Premature Heart Disease
• Hepatic Glycine Cleavage Defect
• Glanders due to Malleomyces Mallei
• Large Clumps of Pigment Irregularly Distributed Along Hair Shaft
• Ossification Evident 2-8 Months Following Swelling
• Deep Hypointensities Suggestive of Past Microbleeds
• Increased Focal Mitochondrial Density
• Transient Autoantibodies
• E2 Subunit (PDH) Protein Decreased
• Choroidal Neovascularization
• Deficiency of Mitochondrial Respiratory Enzymes I, III, and IV
• Pulmonary Veno-Occlusive Disease Seen on Biopsy
• Spasticity May Be Present
• Sensorineural and Conductive Hearing Loss
• Onset in Late Childhood or Early Teens