41801 to 41900 most common queries

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

• Most Frequent among Black Africans
• Cutaneous Leishmaniasis
• Appropriately Increased Serum 1,25-Dihydroxyvitamin D3
• Aldosterone Secretion Elevated
• Collagen Fibrils Normal in Shape and Diameter
• Severe Cerebellar Ataxia
• Adult Non-Nephropathic Cystinosis
• Death Usually in Early Childhood
• Severe Foot Contractures
• Reduced Brain Gyri
• Mutation in the Collagen Type 7 Alpha 1 Gene
• 80% Cases New Mutations
• Ainhum of Toe (Usually 5th Toe)
• New World Leishmaniasis
• Episodic Asymptomatic Severe Hypoglycemia in Childhood
• Hyperfolded Ears
• Motor Milestones Delayed
• Slowing - Theta Waves Parietal Bilaterally
• Caused by Mutation in the p21-Activated Kinase 3 Gene
• Hypertrophic Scarring
• Amount and Activity of Mitochondrial Complexes I and IV Decreased
• Polydactyly (Major Feature)
• Juvenile or Adolescent Nephropathic
• Severe Toe Contractures
• Severe Speech Delay
• Skin Lesion
• Decreased Staining for Collagen VII
• Absence of Lower Incisors
• Mutation in the Fibroblast Growth Factor Receptor 3 Gene
• Leukocytosis (Mean Leukocyte Count: 18.7*10^9/l)
• Thyroid-Stimulating Hormone Normal
• De Novo Mutation Resulting in Haploinsufficiency of EFTUD2
• Slowing - Delta Waves Frontal Left
• Defective Oxidative Phosphorylation in Fibroblasts
• Plantar Softness
• Relatively Long Ears
• Small Tooth Roots
• 1 - Infantile Nephropathic Cystinosis
• Gut Dysmotility
• Severe Hand Contractures
• Esophageal Peristalsis Decreased
• Flat Rooted Acetabulae
• Hypodactyly
• Hypotrophic Anchoring Fibrils
• Free T4 Levels Low
• Hypoplasia of the Upper Part of the Helix
• Slowing - Delta Waves Temporal Bilaterally
• Brain Biopsy Abnormal
• Mutation in the HSD17B4 Gene
• Hypermobility of Large Joints
• Mild Obesity
• Three Types of Cystinosis Are Recognized
• Some Patients Can Hold Menial Jobs
• Oromotor Difficulties
• Major Renal Anomalies
• Severe Finger Contractures
• Cystathioninuria
• Narrow Sacroiliac Groove
• Number of Anchoring Fibrils at Dermal-Epidermal Junction Decreased
• Caused by Mutation in the Adenylosuccinate-Lyase Gene
• Luteinizing Hormone Levels Low
• More Severe Loss of Position and Vibration
• Slowing - Theta Waves Central
• Severely Delayed Speech Development
• Decreased Activity of Mitochondrial Complexes I, III, and IV
• Severe Clinical Course
• Self-Absorbed
• Recurrent Dislocations
• Mutations in the Cystinosin Gene
• Proline Oxidase Deficiency
• Antinuclear Autoantibodies
• Learning Disabilities (major)
• Some Patients Attend Special School
• Progressive Interpediculate Narrowing in Lumbar Spine
• Cupping and Flaring of Costochondral Junctions
• Tissue Separation below Lamina densa of Basal Membrane
• One Family of Italian American Descent Has Been Described
• Slowing - Theta Waves Frontal Left
• Mutation in the TIA1 Gene
• Corneal Diameter Decreases with Decreasing Axial Length
• Cerebrospinal Fluid Culture Negative
• Two Families Have Been Reported as of September 2011
• Majority of Children Die at Age 6 Months to 5 Years
• Bluish Sclerae in Infancy
• No Retinopathy
• Dystonic Tremor
• Periorbital Swelling Due to Violaceous Plaques on the Eyelids
• Repetitive Self Stimulatory Behavior Using Upper Limbs
• Most Patients Have Adult Onset of Symptoms
• Banded Hair Shafts
• Mutation in the RDH11 Gene
• Lichenified Lesions
• Four Patients Reported - Last Curated April 2013
• Slowing - Theta Waves Temporal Left
• Recurrent Otitis Media in Infancy and Childhood
• Corneal Steepening Proportional to the Degree of Axial Foreshortening
• Mutation in the KIF1A Gene
• Severe Autoimmune Cytopenia
• Movements in Utero Decreased
• Exercise-Induced Myoglobinuria