39201 to 39300 most common queries

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

• Tissue Biopsy Shows Granulomas
• Abscess Formation in Any Organ
• Recurrent Bacterial Infection
• Cellulitis due to Immunodeficiency
• Perirectal Abscesses due to Immunodeficiency
• Hepatic Abscesses due to Immunodeficiency
• Excessive Bleeding after Minor Trauma
• Partial Factor VIII Deficiency in Heterozygous Carriers
• Mutations in the F8 Gene
• Petechiae and Purpura Do Not Occur
• Common Ecchymoses
• Prothrombin Time Normal
• CRASH is an Acronym which Encompasses all L1CAM Diseases: Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus
• Neonatal or Infant Death
• Most Common Form of Inherited Congenital Hydrocephalus
• Flexion Deformities of Thumbs (Adducted Thumbs)
• Susceptibility to Infections Starts in the First Week of Life
• Present but Small Tonsils
• Absent Antibody Production
• Severe Enteroviral Infections
• Delayed Onset of Puberty
• See Also Autosomal Dominant Hypophosphatemic Rickets
• Usually Men Have More Severe Disease than Women
• Mutation in the PHEX Gene
• 1,25-Dihydroxyvitamin D3 Normal to Low-Normal
• Parathyroid Hormone Normal to Mildly Increased
• Flattening of the Talar Dome
• Shortening of the Talar Neck
• Pseudofractures in Adults
• Anteroposterior Skull Length Increased
• Calcification of Entheses, More Common in Adults
• Osteoarthritis More Common in Adults
• Rickets in Children
• Recurrent Dental Abscesses
• Enlarged Pulp Chambers
• Defect in Dentin Maturation
• Mutation in the CRBN Gene
• No Autistic Features
• Mildly Delayed Developmental Milestones
• Square-Wave Jerks
• Onset in Second and Third Decades
• Fibrillations and Fasiculations (EMG)
• Progressive Gait Ataxia
• Later Onset of Ophthalmoparesis
• Onset of Sensory Ataxia in Early Adulthood
• Mutation in the POLG Gene
• Lactate Mildly Increased
• Upward Gaze Paresis
• Memory Difficulties
• Distal Sensory Impairment to Vibration and Proprioception
• Sensory Ataxic Neuropathy
• Atrophy or Degeneration Involving the Spinal Cord
• MRI Shows Cerebellar White Matter Lesions
• MRI: Bilateral Thalamic Lesions
• Ataxia Worsens in the Dark
• Night Blindness from Early Childhood
• Haploinsufficiency of GRN
• Most Common Subtype of Frontotemporal Dementia (600274)
• Mean Age of Onset Is 62 Years
• Mutation in the Granulin Gene
• Nonspecific Spongiform Degeneration
• Astrocytic Gliosis
• Cortical and Brainstem Neuronal Loss
• Parkinsonism (Late Symptom)
• Speech Hesitancy
• Progressive Language Deterioration
• Favorable Response to Alcohol
• Upper Limbs More Often Affected than Lower Limbs
• Recurrent Erosions Uncommon
• Foreign Body Sensation due to Erosions
• Deeper, Fusiform Lattice Deposits Develop Later
• Granular Deposits Replace Epithelial Basement Membrane
• Dystrophic Changes May be Present
• Biopsy Merosin-Positive
• Oblique Palpebral Fissures
• Allelic to Long QT Syndrome 1
• Sella Turcica Enlarged
• Patellar and Ankle Clonus
• Lower Limb Weakness as Presenting Feature
• Mean Age of Onset 50.2 Years
• Neck Flexor Muscle Weakness
• Early Onset (at about Age 1 Year)
• Variable Degree of T Cell Dysfunction
• Normal T Cell Numbers
• Episodic Blurred Vision
• Episodic Scotomas
• Tortuous Retinal Arterioles
• Deep Hypointensities Suggestive of Past Microbleeds
• Clinically Resembles Spinal Muscular Atrophy Type 1
• Onset Prenatally or at Birth
• EMG Shows Neurogenic Changes
• Loss of Anterior Horn Cells
• Abnormal Eyebrows
• Number of Eyelashes Reduced
• 'Chubby' Proximal Phalanges
• Fish-Like Mouth
• Inferior Ocular Cyst
• Usually Death Shortly after Birth due to Respiratory Failure
• Normal Lung Histology
• Respiratory Failure in Infancy