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Defect in N- and O- Glycosylation Abnormal Distribution of Subcutaneous Fat Partial Pachygyria Mutations in the LIM-Homeodomain Protein LHX3 Gene Short Neck with Limited Rotation Anterior Pituitary Enlargement Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene Quadrupedal Gait Variable Age at Diagnosis Mutation in the SEC23B Gene Hypoglycosylation of Erythrocyte Membranes Multinucleated Erythroblasts Erythroblast Morphologic Abnormalities Mutation in the WNT10B Gene Caused by Mutation in the EVC Gene Folate-Responsive Megaloblastic Anemia Formiminoglutamic Acid Increased Plasma Methionine Low Cerebrospinal Fluid Folate Decreased Hypoimmunoglobulinemia Folate Malabsorption Development Delayed if Untreated Notable Friendly Behavior Onset in Infancy after Weaning Mutation in the Fructose Bisphosphate Aldolase B Gene Absent Dental Caries Aversion to Sweets and Fruit Most Patients Present with Anemia in Infancy Anemia Is Responsive to Corticosteroid Treatment Mutation in the TBXAS1 Gene Corticosteroid-Sensitive Anemia Wide Diaphyseal Medullary Cavities Thick Long Bones of the Extremities Variable Neurologic Phenotype Mutation in the GCH1 Gene GCH1 Activity Decreased or Absent Cerebrospinal Fluid Neopterin and Biopterin Decreased Urine Neopterin and Biopterin Decreased Allelic to Kenny Caffey Syndrome Type 1 Distinct Disorder from Autosomal Dominant Hyper IgE Syndrome Possibly Early Death due to Infection Natural Killer Cells Decreased T Cells Decreased T-Cell Proliferation and Activation Impaired Neurologic Sequelae of Infections Increased Delayed Closure of Ductus Arteriosus Dysgenesis of the Corpus Callosum Approximately 50% of Patients Have Situs Inversus Mutation in the DNAI1 Gene Dumbbell-Shaped Long Bones Matrix Degeneration with Large Aggregated Collagen Fibers Chondrocytes Enlarged 'Swiss Cheese' Appearance of Cartilage Mutation in the SAR1B Gene Defect in Chylomicron Secretion Absence of Chylomicrons in Lymph and Plasma Jejunal Endoscopy Shows White Epithelium Neurologic Deficits May Occur Secondary to Malabsorption Soft Tissue or Tendinous Calcinosis May Occur Early Death May Occur No Evidence of Intrauterine Infection in Mother or Newborn Bitemporal Grooving Hypogenesis of the Corpus Callosum Mutation in the SDHAF1 Gene Kearns Sayre Syndrome in a Subset of Patients Death at about 34 Years Fleshy Nasal Tip Loss of Speech Development Low Weight due to Poor Feeding Amyloid Deposition in Muscle Fibers Occurs Rarely Mutation in the AGRN Gene Disorganization of the Neuromuscular Junction Acetylcholine Receptors Decreased Onset in Teens to 20s Horizontal Saccades Complement Component Deposition Granular Material in Cortical Tubules Vacuolization in Distal and Collecting Tubules Collapsing Glomerulopathy No Cognitive Decline Resting Myoclonus Severe Contractures of all Proximal and Distal Joints Collagen VI Decreased Variation of Myofiber Diameter Fibrosis and Increased Connective Tissue (Muscle Biopsy) Muscles Have a Woody Consistency on Palpation Mild Proximal and Distal Muscle Weakness Limited Neck Motion due to Spinal Contractures Limited Mouth Opening due to Jaw Contractures Warm Weather and Alcohol Are Alleviating Factors Cold Temperatures Exacerbate Symptoms Handgrip Myotonia Tongue Myotonia Eyelid Myotonia Nerve Conduction Velocities Decreased (30%) Iron Deposition in the Basal Ganglia Increased Death Usually in Teenage Years Neuronal Loss (Especially Cerebellar Purkinje Cells) Protruding Right Ear Mutation in the ZBTB16 Gene