40501 to 40600 most common queries

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

• Erythrocyte 2,3-Diphosphoglycerate Decreased
• Fatal Respiratory Failure
• Abnormal Bile Duct Architecture
• Death about 20 Years after Symptom Onset
• Mutation in the DFNA5 Gene
• Upturned Nostrils
• Generalized Slow Activity Grade 1
• White Dots Throughout Retina
• Disproportionately Short Limbs - Often Noted at Birth
• Dilated Superficial Vessels Give 'Red Eye' Appearance
• Mild Diaphyseal Changes of Long Bones
• Increase in B Cells
• Marbled Skin due to Telangiectasia
• Gout due to Increased Uric Acid
• Dysmyelination of Brain and Spinal Cord
• Caused by Mutation in the WAS Gene
• Dysplastic C Shaped Inferior Olivary Nuclei
• Duodenal Villous Atrophy
• Glucagon Increased
• Multiple Buccal Frenula
• Microvesicular Steatosis (Biopsy)
• Autoimmune Enteropathy
• Fine Peripheral Pigmentary Mottling
• Extensive Lesions May Impair Vision
• Posterior Cortical Thickening of Tibiae
• Muscle Glycogen Content Increased
• Severe Olivopontocerebellar Hypoplasia
• Mutation Carriers May Show Toxicity to 5-Fluorouracil
• Generalized Slow Activity Grade 3
• Reduced Number of CT4+ T Cells
• No Eczema
• Loose, Redundant Skin on Fingers
• Distal Tapering of the Carotid, Cerebellar, and Meningeal Arteries
• Early Death in Most Cases
• External Auditory Canals Absent
• Slow-Frequency High-Amplitude Waves with High-Frequency Polyspikes
• Widespread Atrophy of Retinal Pigment Epithelium
• Monocytes Decreased
• Lesions May Involve Cornea
• Muscle Fibers May Contain Abnormal Polysaccharide
• Broadening or 'Tibialization' of Fibulae
• Cellular Sensitivity to UV Light Increased
• Frequent Infections in Childhood
• Approximately 12 Patients Have Been Reported (as of March 2010)
• Autoantibody-Positive Hypothyroidism
• Photoparoxysmal Response Grade 2
• Mean Platelet Volume Normal
• Short, Broad Phalanges
• Pseudolaminar Spongiform Changes
• Simple Auricles
• Oral Bleeding
• Generalized Retinal Pallor
• Variable Hearing Loss and Ocular Findings
• Right Aortic Arch
• Possibly Only Ocular Involvement or Only Oral Involvement
• Jaundice due to Hemolytic Anemia
• Mutation in the Dihydropyrimidinase Gene
• DNA Excision Repair Decreased
• Early-Onset Severe Obesity
• Anterior Bowing of Diaphyses of Fibulae
• Some Patients Require Insulin for Treatment
• CD8+ T Cells Increased
• Generalized Polyspikes
• Broad Middle and Proximal Phalanges
• Sudden-Onset Drug-Resistant Seizures
• Aplasia or Dysplasia of Thyroid
• Unilobular Lung
• Possibly Seasonal Variation in Symptoms
• Most Patients Become Wheelchair-Bound in Adolescence
• Bleeding Gums
• Hearing Loss Occurs in Late Childhood
• Thymine and Dihydrothymine in Bodily Fluids Increased
• Affects 1-2 in 400 Individuals of Northern European Descent
• Sympathetic System Dysfunction
• Susceptibility to Infections Start in the First Year of Life
• Anterior Bowing of Diaphyses of Tibiae
• Parietal Focal Spikes
• Infections May Precipitate Ketotic Episodes
• Short Broad Phalanges - Progressive Shortening in First Year
• Hypoplasia or Absence of Optic Nerve
• Congenital Nasal Pyriform Aperture Stenosis
• Nasal Mucosa Telangiectases
• Mutation in the Collagen Type 4 Alpha 4 Gene
• Abnormal Bone Marrow Test Result
• Occasionally Low-Dose Insulin Required
• Mutation in the Family with Sequence Similarity 111 Member A Gene
• Body Fluid Uracil and Dihydrouracil Increased
• Onset between 6 and 14 Years
• Iron-Stainable Hepatic Parenchymal Cell Increased
• Sex Hormone Binding Globulin Levels Low
• Malformation of Vertebral Column
• Onset at Age 5-24 Months
• Centrotemporal Focal Spike-and-Slow-Waves
• Rudimentary Adenoids
• Midnasal Atresia or Stenosis
• Spontaneous Recurrent Epistaxis
• Progressive Shortening of Ulna in First Year of Life
• Hypoplastic Renal Arteries
• Development of Pubic and Axillary Hair Delayed
• Diagnosed in Second or Third Decade of Life