25001 to 25100 most common queries

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

• Bone Dysplasia
• T Cell Proliferation Decreased
• Naive T Cells Low
• Low Memory B Cells
• Lack of Acquired Antibodies
• IgM and IgG2 Decreased
• Hypoplastic Optic Chiasm
• Cyst Associated with Dysplastic Globe
• Onset of Tremor Usually before Onset of Seizures
• Young Adult Onset
• Cortical Reflex Myoclonus
• Photoparoxysmal and Photomyoclonic Responses
• Spike-and-Slow-Wave or Polyspike-and-Slow-Wave Discharges
• Cortical Origin of Tremor
• Favorable Response to Rituxan
• Recurrent Acute Episodes
• Variable Survival
• Persistent EBV Viremia
• Increased Susceptibility to EBV Infection
• Systemic Inflammatory Response
• Hemophagocytosis
• NK Levels Decreased
• Lack of CD27 Expression on Lymphocytes
• Defective CD8+ T Cell Function
• T-Cell-Dependent Antibody Production Decreased
• Hemophagocytic Lymphohistiocytosis
• Persistent Lactic Acidosis
• Cytochrome C Oxidase Activity Decreased
• Biventricular Hypertrophic Cardiomyopathy
• Cytochrome C Oxidase Activity Mildly Decreased
• Abnormal Facial Expression Upon Smiling Laughing or Crying
• Low Capacity Bladder
• Broad, Flat Nares
• Mild Pectus Excavatum
• Death Usually by 1 Year of Age
• Caused by Mutation in the Zinc Finger Protein 335 Gene
• Prominent Helices
• Low Sloping Forehead
• Severe Microcephaly (>9 SD)
• Poor Somatic Growth
• Poor Dendritic Maturation
• Abnormal Cell Orientation
• Little Polarity in Remaining Neurons
• Loss of Neurons Affecting All Cortical Layers
• Severe Cerebral Atrophy
• Prominent Trabeculations
• Abnormal Lung Lobulation
• Horizontally Oriented Ribs
• Mutation in the SNX10 Gene
• Fully Ossified Sphenoid Sinuses
• Fully Ossified Ethmoid Air Cells
• Narrow Optic Canal
• Narrowed Medullary Space due to Encroachment of Cortical Bone
• Dense Bones
• Unilateral or Bilateral Vision Loss
• Sclerosis of Semicircular Canals
• Mutation in the MGME1 Gene
• Creatine Kinase Mildly Increased
• Gastrointestinal Symptoms
• Profound Emaciation
• Variable Deficiencies of Mitochondrial Respiratory Chain Enzymes
• COX Negative Fibers
• Hypergonadotropic Hypogonadism - Reported in 1 Female
• Mutation in the Kelch-Like Protein 10 Gene
• Asthenozoospermia
• Epiphyseal Changes in the Proximal Phalanges Mild
• Deep-Seated Eyes
• Microcephaly (3-5 SD below the Mean)
• Complex Cardiac Malformations
• Nasal Nitric Oxide Decreased
• No Ophthalmoplegia
• Pterygia of Groin
• Pterygia of Elbows
• Pterygia of Axillae
• Pterygia of Neck
• Mild Camptodactyly
• Adducted Wrists
• Extension Contractures of Knees
• Bilateral Hip Dislocation
• Ptosis - Unilateral or More Severe on One Side
• Intrafamilial Variability in Degree of Hypotrichosis
• Normal Pubic Hair
• Absent Body Hair
• Hypotrichosis or Alopecia
• No Response to Dim Stimuli in Dark-Adapted State (ERG)
• Cone-Driven 1-Hz Response with Unusual Waveform (ERG)
• Positive Component on Electroretinography Reduced
• Preserved Negative Component on Electroretinography
• Difficulties in Fine Movement of the Hands
• Fibroblasts Accumulate Dol-PP-GlcNAc2Man5
• Abnormal N-Glycosylation of Transferrin
• Reduced O-Mannosyl Glycans on Alpha Dystroglycan
• Loss of Cerebral White Matter
• Absence of Spontaneous Movements
• Caused by Mutation in the Transmembrane Protein 5 Gene
• Limb Deformation
• Occipital Neural Tube Defects
• Described in Individuals of Bukharan Jewish Descent
• Central Apneic Episodes May Be Fatal
• Chubby Appearance