28001 to 28100 most common queries

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

• Fatal before Age 2 Years
• Mutation in the Seryl-tRNA Synthetase 2 Gene
• Enlarged Mitochondria with Paracrystalline Inclusions
• Denuded Tubules
• High Fractional Excretion of Magnesium
• Low Fractional Excretion of Uric Acid
• Enlarged Mitochondria
• Globally Delayed Development
• Peripapillary Retinal Pigment Epithelium Atrophy
• Indistinct Foveolar Reflex
• Fundus Examination Normal at Birth
• Sluggish Pupillary Reflex
• Color Vision Disturbed
• Visual Fields Moderately to Severely Restricted
• Oculodigital Sign of Franceschetti
• Ocular Pursuit Poor or Absent
• Visual Acuity Ranging from Perception of Light to 20%
• Progressive Vision Loss during Childhood or Adolescence
• Poor Vision at Birth
• Activity of Dihydrofolate Reductase Decreased
• Neuronal and Vascular Calcifications
• Cerebellar Hypoplasia and Atrophy
• Caused by Mutation in the Myozenin 2 Gene
• Asymmetric Septal Hypertrophy
• Repolarization Abnormalities
• All De Novo Mutations
• Small Vessel Brain Infarcts and Aneurysms
• Bilateral Stenoses of the Terminal Internal Carotid Artery
• Non-Specific Lung Disease
• Small Vessel Retinal Infarcts and Aneurysms
• Bilateral Periventricular White Matter Hyperintensities
• Solute Carrier Family 24 Member 1 Gene
• Absent A- and B-Waves under Scotopic Conditions
• Funduscopic Examination Normal
• Night Blindness Beginning in Early Childhood
• Hypoglycosylation of Alpha-Dystroglycan (Muscle Biopsy)
• Dystrophic Changes (Muscle Biopsy)
• No Structural Brain Anomalies
• Fibrosis Seen on Biopsy
• Nonspecific Inflammation Seen on Biopsy
• Giant Cell Hepatitis Seen on Biopsy
• Mutation in the SMAD3 Gene
• Meniscal Lesions
• Spondylolysis
• Uncovertebral Joint Osteoarthritis
• Facet Joint Osteoarthritis
• Uvula Abnormal
• Antigenically Defective C8 Detected
• Aortic Dissection with Little or No Aortic Enlargement
• Deletion Sizes Range from 287 kb to 4.4 Mb
• Sacral Crease
• No Cancer despite Harboring Complete Deletions of the TP53 Gene
• Earlobe Pits
• Bilaterally Inverted Nipples
• Limited or Nonverbal Speech
• Height in Females Increased
• Uterus Hypoplastic to Normal
• Dysgenetic Testes
• Normal-Appearing Female External Genitalia
• Ambiguous Male External Genitalia
• Mutation in the FADD Gene
• Left Sided Superior Vena Cava Draining Into Left Atrium
• Increased Fas Ligand
• Number of CD4- CD8- TCR-Alpha-Beta+ T Cells Increased
• Functional Hyposplenism
• Mild Liver Dysfunction
• Muscle Mass in the Thighs Decreased
• Neonatal Hypotonia and Later
• Amicable Behavior
• Diffuse White Matter Loss
• Mutation in the RHO Gene
• Early Onset Night Blindness and Abnormal Fundus
• Inferior and Inferonasal Retinal Pigmentation
• Abnormal Electroretinograms in Heterozygotes
• Mutation in the Phospholipase C Beta 1 Gene
• Regression of Development
• Psychomotor Development after Onset of Seizures Delayed
• Suppression with Ictal Burst Activities
• Abundant Slow-Waves and Fast Spike Activity
• Full Recovery after Attacks
• Onset Usually Associated with Febrile Illness
• Onset of Acute Encephalopathic Attacks in Childhood
• Cerebrospinal Fluid Lactate Increased during Acute Episodes
• Forefoot Supination
• Forefoot Adduction
• Distal Joint Contractures - Lower Limbs
• Distal Muscle Atrophy due to Neuropathy
• Distal Muscle Weakness due to Neuropathy
• Lesions in the Caudate and Putamen Seen on MRI
• Episodic Encephalopathic Attacks Associated with Infection
• Mutations with Partial Penetrance
• Caused by Mutation in the Presenilin-2 Gene
• Caused by Mutation in the Presenilin 1 Gene (PSEN1 104311-0034)
• Absence of All Distal Creases of Second to Fifth Digits
• Hypoplasia or Absence of Distal Phalanges of Great Toes
• Absence of Distal Phalanx of Fifth Digit
• Hypoplasia of Distal Phalanges of Second to Fourth Digits
• Breast Hypertrophy in Females
• Unilateral Vertebral Artery Hypoplasia
• Moderate Restrictive Ventilatory Defect