Sitemap | Symptoma 25001 to 25100 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. 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 More than 40 Layers of Cornified Lamellae