Sitemap | Symptoma 21101 to 21200 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. 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 Mutation in the CLIC5 Gene
