37401 to 37500 most common queries

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

• Phytanic Acid Oxidase Activity Decreased
• Three Unrelated Patients Reported (as of April 2014)
• Abnormal Breast Biopsy
• Childhood Onset May Occur
• Episodic Severe Fever
• Lower Limb Muscle Atrophy due to Peripheral Neuropathy
• Caused by Mutations in the Mucolipin-1 Gene
• Lack of Ocular Fixation
• Occurs Most Often in Developing Countries in Tropical Regions
• Onset in Early Childhood after Initially Normal Development
• Existence as a Distinct Entity Is Not Confirmed
• Phytanic Acid in Body Tissues and Fluids Increased
• Granulocyte Dysfunction
• Tissue Triglycerides Increased
• Mutation in the Beta Tubulin Gene
• Leukocyte Alkaline Phosphatase Decreased
• Lack of Inflammation
• Caused by Mutation in the Homolog of the S Pombe RAD21 Gene
• Multiple Long-Bone Exostoses
• Median Age at Onset Is 21 Years
• Urine Phospholipids Increased
• Contiguous Duplication of 2.2 Mb on Chromosome 17q23.1-q23.2
• Clinical Course Age-Related
• Thick Calloused Skin
• Mutation in the COASY Gene
• Known Coagulation Factors Normal
• Microcephaly (2.5-4 SD)
• Limb Atrophy
• Primary Combined Immunodeficiency
• Enlargement of Type I Muscle Fibers Consistent with Denervation
• Increased Tissue Long-Chain Fatty Acids
• Radioulnar Abnormalities
• Lysosomal Hydrolases Normal
• Thyroid Stimulating Hormone Increased
• Tented, Thickened Alae Nasi
• Mutation in the SPINK1 Gene
• Normal Acini Are Replaced with Honeycombed Cysts
• Female Predominance 4:1
• Anhidrosis of the Trunk and Limbs 100% of the time
• Hypoplastic Distal Tibial Epiphysis
• Tissue Total and Free Carnitine Decreased
• Band Heterotopia
• Onset Mid to Late Adulthood
• Cerebrospinal Fluid Protein Increased, Cell Count Normal
• Hypointensities in the Basal Ganglia (T2-Weighted)
• Mutation in the Myogenic Factor 6 Gene
• Mildly Delayed Psychomotor Development
• Large Protuding Ears
• Hemivertebrae
• Cytoplasmic Lamellar Concentric Inclusions
• Bilateral Swelling of Parotid Gland
• Increased Risk of Pancreatic Cancer
• Diurnal Fluctuation More Apparent in Earlier Years
• Plasma Total and Free Carnitine Decreased
• Absent Axonal Flare Response to Intradermal Histamine Injection
• Transferrin Saturation Decreased
• Aggregation of SNCA-Immunopositive Inclusions
• Iron Accumulation in the Basal Ganglia Seen on MRI
• Possibly Negative Repeat Expansion (5%)
• Fibrin-Rich Alveolar Deposits - 'Hyaline Membranes'
• Short and Thickened First and-or Second Metatarsal
• Based on 1 Uruguayan Family
• Fibrous Dysplasia of the Cornea
• Joint Dislocations Become Less Frequent with Age
• Vertebral Clefting
• Most Patients Have De Novo Mutations
• Tissue Long-Chain Acylcarnitines Increased
• Favorable Response to L-Dopa without Side Effects
• Intraductal Calculi Especially in the Caput
• Dimpling of Breast Skin
• Three Unrelated Infants Reported (as of January 2013)
• Normal Initial Psychomotor Development
• Intracellular Lewy Bodies
• Lack of Normal Iliac Flare
• Delayed Wound Healing with Normal Immune System
• Congenital - Over 2 000 Repeats
• Autistic Features
• Autosomal Recessive Inheritance Has Also Been Suggested
• Waxing and Waning Cardiomyopathy
• Cerebellar Atrophy in Older Patients
• Long-Chain Acylcarnitines Increased
• Mild to Severe Cognitive Delay
• GTP Cyclohydrolase I Activity Decreased to about 20%
• Surfactant Decreased
• Recurrent Abdominal Pain Since Childhood
• Abnormal Mammogram
• Reported in the Ohio Amish Anabaptist Community
• Variable Respiratory Chain Enzyme Deficiency
• Adult-Onset: 100-1,000 Repeats
• Loss of Dopaminergic Neurons
• Thickened Inferior Pubic Ramus
• Normal Lacrimation
• Cerebral Dysmyelination
• Insulin-Dependent but Ketosis-Resistant Diabetes
• Coalescence of Calcaneal Ossification Centers Delayed
• Polymicrogyria - Usually Frontal
• Premature Delivery (<37 Weeks of Gestation)
• Asymmetry of Symptoms
• Long Tapering Toes
• T Cells Increased or Decreased