21101 to 21200 most common queries

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

• T Cell Activation Increased
• Hyperproliferation of Effector T Cells
• T Regulatory Cells Show Poor Function
• Levels of Naive T Cells Decreased
• Abnormal Lymphocytic Accumulation in Non-Lymphoid Tissue
• Peripheral Lymphopenia
• Lymphocytic Enteropathy
• Lymphocytic Infiltration of the Brain
• Wooly Scalp Hair
• Normal Granular Layer
• Regular Acanthosis
• Nonepidermolytic Keratoderma
• Pseudoainhum of Fifth Toes
• Keratoderma of Soles at Pressure Points
• Striated Keratoderma on Palms
• Percentage of Naive T Cells Increased
• Percentage of Naive B Cells Increased
• Memory T Cells Decreased
• Recurrent Bacterial and Viral Infections
• Marked Ketonuria
• Severe Ketoacidosis
• Episodes Brought on by Fasting or Infection
• Age of Onset within the First Years of Life
• Mutation in the Solute Carrier Family 16 Member 1 Gene
• Cyclic Vomiting
• Mild to Moderate Intellectual Disability - in Homozygotes
• Death May Occur in the First Decade
• Immunodeficiency Is Progressive
• Reduction of Mature B Cells
• Mutation in the ZMYND11 Gene
• Social Difficulties
• Mutation in the Exosome Component 8 Gene
• Severe Muscle Atrophy
• Loss of Myelin in the Descending Lateral Spinal Cord Tracts
• Loss of Myelin in the Cerebral and Cerebellar White Matter
• Immature Myelination
• Mutation in the CDK6 Gene
• Primary Microcephaly
• Onset of Disease between 25 and 40 Years of Age
• Mutation in the ITM2B Gene
• Oscillatory Potentials Decreased to Undetectable
• Hyperreflectivity of Nerve Cell Layer
• Hyperreflectivity of Ganglion Cell Layer
• Subtle Foveal Changes
• Relative Central Scotoma
• Variable Dysmorphic Features
• Mutation in the SET Binding Protein 1 Gene
• Variably Dysmorphic Facies
• Mutation in the EGFR Gene
• Slight Decrease in Number of Gap Junctions
• Intercellular Edema from Basal Layer to Mid Spinous Layer
• Widening between Adjacent Keratinocytes
• Long Eyelashes (Trichomegaly)
• Enlarged Kidneys without Obstruction
• One Consanguineous Pakistani Family Has Been Reported
• Involuntary Mirror Movements Affecting the Hand and Fingers
• All Reported Cases Have De Novo Mutations
• Multifocal Epileptiform Spikes
• Favorable Response to Clonazepam
• Variable Duration
• Variable Frequency
• Onset around Age 2 Years
• Episodic Twitching around the Eyes
• Mild Dysarthria
• Episodic Slurred Speech
• Lower Limbs More Severely Affected
• Mutation in the ISPD Gene
• Myoglobinuria after Exertion
• Hypoglycosylation of Alpha-Dystroglycan
• Atrophy of Upper Girdle Muscles
• Muscle Weakness - Proximal Upper and Lower Limbs Affected
• Mutation in the CENPE Gene
• Congenital Restrictive Cardiomyopathy
• Mild Metaphyseal Sclerosis
• Intermittent Nystagmus
• Large Appearing Ears
• Microcephaly (7 to 9 SD)
• Low Weight due to Poor Growth
• Short Stature (in 1 of 2 Sibs)
• Mild Widening of the Ribs (in 1/2 Sibs)
• Simplified Gyral Pattern (in 1 of 2 Sibs)
• Flares Triggered by Viral Infection Overexertion Stress
• Enterocolitis Tends to Remit with Age
• Mutation in the NLRC4 Gene
• Episodic Pancytopenia
• Episodic Disseminated Intravascular Coagulation
• IL1B and Soluble IL2R Increased
• Increased IL-18
• NK-Cell Dysfunction
• NK Cells Decreased
• Systemic Autoinflammation
• Infantile Secretory Diarrhea
• Infantile Enterocolitis
• Death in the First Years of Life
• Activities of Several Mitochondrial Respiratory Enzymes Decreased
• Onset in Late Twenties
• Absent or Abnormal Otoacoustic Emissions
• Progression to Profound Hearing Loss Affecting All Frequencies
• Hearing Loss Initially Affects Mid and High Frequencies
• Onset in Infancy - First Year of Life