26001 to 26100 most common queries

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

• Bile Duct Abnormalities
• Chronic Vaginal Candidiasis
• Candidal Meningitis
• Acute Hypoketotic Hypoglycemic Episodes
• Responsive to Carnitine Supplementation
• Onset in Infancy of Acute Hypoglycemic Episodes
• Mutation in the Solute Carrier Family 22 Member 5 Gene
• Fatty Infiltration of Heart Muscle
• No Ketosis
• Carnitine in Serum, Muscle, Heart, and Liver Decreased
• Urine Carnitine Increased
• Muscle Biopsy: Lipid Deposition
• Delay in Gross Motor Development due to Weakness
• Lethargy Associated with Hypoglycemia
• Mutation in the Myosin Va Gene
• Mostly Sporadic, Rarely Somatic and Germline Mosaicism
• Bifid Femur
• Ulnar Hypoplasia
• Hypoplastic Semicircular Canals
• Chewing and Swallowing Difficulties
• Intellectual Function May Be High in Milder Cases
• Characteristic Facial Features Become More Apparent with Age
• Elastic Fibers Degenerated
• Thin or Fragmented Elastic Fibers
• Prominent Superficial Blood Vessels due to Thin Skin
• Skin Abnormalities Tend to Decrease with Age
• Amount of Elastin Decreased
• Abnormal Broken Shortened Elastic Fibers
• 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
• 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
• 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