35401 to 35500 most common queries

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

• Normal Beard Hair
• Febrile Seizures May Occur
• Fibrosis
• Increased Urinary Sulfatide Excretion
• Rapidly Progressive Disorder
• Mutation in the Phospholipase C Epsilon 1 Gene
• Female to Male Ratio 5:1
• Mutation in the RTTN Gene
• Some Families Have Axonal CMT (CMT2M)
• Genetic Heterogeneity - See Susceptibility to Asperger Syndrome
• Small Irregular Patellae
• Mild Dermal Perivascular Lymphocytic Infiltrate
• Natural Killer Cells Decreased
• Swollen Knee
• Bilateral Cleft Palate
• Mutation in the Regulator of Telomere Elongation Helicase 1 Gene
• Aggregates Contain Granular Electron Dense Material
• Giant Cell Hepatocytes
• Giant Axons with Accumulation of Disorganized Neurofilaments
• Disorganized Thinking
• Short Survival
• Mutation in the Collagen IX Alpha 1 Polypeptide Gene
• Individuals with Normal NCV Values Have Axonal CMT (CMT2M)
• Well-Circumscribed and Painful Subcutaneous Lipomas
• Granular Layer Normal or Slightly Prominent
• Kidney Volume Decreased
• Small Secondary Ossification Centers - Miniepiphyses
• T Cells Decreased
• Severe Bilateral Microphthalmia
• Mutation in the IVD Gene
• No Abnormal Skin Pigmentation
• Tubular Aggregates Mainly in Type 1 Fibers
• Nerve Biopsy Shows Axonopathy
• Associated with Fragile X Syndrome
• Microscopic Hematuria
• Onset in Late Childhood or Adolescence
• Moderate Parakeratosis
• Progression to Tetraplegia and Decerebrate State
• Anterior Osteophytes of Thoracic and Lumbar Vertebrae
• Attacks Non-Responsive to Acetazolamide
• Diffuse Asymmetric Polymicrogyria
• Head Circumference <3rd Percentile
• T-Cell Proliferation and Activation Impaired
• Mutation in the ACTB Gene
• Immunodeficiency Primarily Affecting B Cell Line
• Abnormal Proximal Femora with Miniepiphyses
• Atrophic Muscle Fibers
• More Common in Men (Male-to-Female Ratio = 9:1)
• Prominent Thickening of Nail Beds
• Associated with Untreated Phenylketonuria
• Attacks Typically Last for Minutes
• Mutation in the GRM1 Gene
• Absent CH50 Activity in Complete C4 Deficiency
• Hyporeflexia (Early Symptom)
• Hand Stiffness
• Mild Thickening of Stratum Corneum
• Neurologic Sequelae of Infections Increased
• Often Early Death due to Cardiac Failure or Infection
• Normal Vertebrae
• Usually Fatal
• Vertical Orientation of Hippocampus
• Associated with Tuberous Sclerosis
• Mutation in the Gamma B Crystallin Gene
• All Reported Cases Result from De Novo Mutation
• Exaggerated Lordosis
• Focal to Bilateral Tonic-Clonic Seizure
• Short, Irregular Phalanges
• Most Remit by 6 Weeks
• Wide Range of Onset from Childhood to Adult
• Brain Size Decreased
• Hand Muscle Weakness
• Redundancy of Basal Lamina with Accumulated Debris
• Occurs in 2-5 Per 10 000 Individuals
• Some Patients May Not Achieve Walking
• Mutation in the DNMT3A Gene
• Scales on Scalp
• Later Onset in Females
• Considered a Myeloproliferative Disorder
• Dysgenesis of the Corpus Callosum
• Generalized Joint Laxity
• Mild Humeral Shortening
• High Frequency in Finnish Population
• Mutation in the ITPR1 Gene
• Defective Response of B and T Cells to Activation
• Drug-Resistent Seizures
• Numerous Vacuole-Like Areas
• Lack of Speech Development
• Heavy, Horizontal Eyebrows
• Death May Occur in Childhood due to Respiratory Failure
• Onset around Adolescence in Males
• Fine, White or Greyish White Scales
• Furrowed Forehead
• Premature Central Epiphyso-Metaphyseal Fusion
• Mild Upper Limb Involvement
• Patients May Become Wheelchair-Bound
• Approximately 50% of Patients Have Situs Inversus
• Epileptic Encephalopathy with Psychomotor Retardation
• Onset at Age 20-50 Years
• Onset by 3 Years of Age
• Onset of Disease around 10 Years of Age