35501 to 35600 most common queries

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

• Cholestanol Increased
• Cholesterol Normal to Slightly Increased
• Tendon Xanthomas
• Spinal Cord Paresis
• Elevated Scapulae
• Occasionally Misdiagnosis of Down Syndrome
• Death Usually in First Year of Life
• Plasmalogen Decreased
• Iron and Iron-Binding Capacity Increased
• Long-Chain Fatty Acids Increased
• Dihydroxyacetone Phosphate Acyltransferase Activity Decreased
• Stippled Epiphyses (Patellar and Acetabular Regions)
• Pyloric Hypertrophy
• Absent Liver Peroxisomes
• Absent Renal Peroxisomes
• Limited Range of Neck Motion
• Ankyloblepharon Filiform
• Rapid Progression to Disability
• Mutation in the GDAP1 Gene
• Kyphoscoliosis May Occur
• Inability to Walk by Childhood or Adolescence
• May Progress to Involve Proximal Muscles
• May Be Same Entity as Elejalde Syndrome
• Leukocytes with Giant Inclusion Bodies
• Erythrophagocytosis in Late Phase
• Generalized Lymphohistiocytic Infiltrates in Late Phase
• Lymphadenopathy in Late Phase
• Neutrophil and Monocyte Migration and Chemotaxis Decreased
• Normal B Cell Function
• Absent Natural Killer Cell Cytotoxicity
• Recurrent Cutaneous and Systemic Pyogenic Infections
• Pseudomembranous Sloughing of Buccal Mucosa
• Progressive Peripheral Neuropathy
• Giant Granules in Schwann Cells
• Diffuse Brain and Spinal Cord Atrophy (CT or MRI)
• Nerve Conduction Velocities Severely Decreased
• Progressive Intellectual Decline
• Onset of Cholestatic Jaundice at 2-4 Weeks of Age - Resolving during Childhood
• Onset of Lymphedema before Puberty
• Infantile Malabsorption
• Inactivating Mutations in the PTH1R Gene
• Mutations in the Parathyroid Hormone Receptor 1 Gene
• Square Ilia
• Advanced Skeletal Maturation
• Generalized Sclerosis
• Severe Midface Hypoplasia
• Death at Birth or Shortly after Birth
• Anterior Rib Widening
• Majority of Children Die before Age 2
• 3-Oxoacyl-CoA-Thiolase Unprocessed
• Acyl-CoA:Dihydroxyacetonephosphate Acyltransferase Deficiency
• Plasmalogen Deficiency
• Epiphyseal Calcification
• Disappearance of Stippling in First Year of Life
• Severe Delay in Myelination
• Mutation in the Lamin B Receptor
• Moth-Eaten Fragmented Long Bones
• Punctate Calcifications in Iliac Apophysis, Ischium and Pubis
• Platyspondyly with Multiple Extra Ossification Centers
• Mutation in the Collagen XI Alpha 2 Polypeptide Gene
• Recurrent Pulmonary Infections
• Wide, Flat Epiphyses
• Absent-Small Capital Femoral Epiphyses
• Enlarged Joints
• Square Iliac Wings
• Anterior Vertebral Wedging
• Enlarged Odontoid Process
• Vertebral Coronal Clefts (Newborn)
• No Ocular Symptoms
• Mutation in the ASS Gene
• Hepatic Argininosuccinate Synthetase Deficiency
• Citrulline Increased (1-5 mM)
• Sparse Eyelashes and Eyebrows
• Aplasia or Hypoplasia of the Nails
• Short Tapering Toes
• Association of Cardiac Events with Exercise
• Onset Possibly in Early Infancy, Adolescence, or Adulthood
• Onset Usually in Late Infancy or Childhood
• Mutation in the EIF2B2 Gene
• Possibly Blindness
• Cessation of Head Growth in Affected Infants
• MRS Shows Decreased Creatine in White Matter
• Decreased Choline in Affected White Matter (MRI)
• Decreased Amount of Myelin Specific Lipids
• Amount of Myelin-Specific Proteins Decreased
• White Matter Rarefaction and Cystic Degeneration
• Biopsy: Foamy Lipid Laden Macrophages
• Severe Leukoencephalopathy
• Mild Mental Decline
• Developmental Regression in Affected Children
• Mutations in the Caspase 10 Gene
• Vasculitic Rash
• Anti-Factor VIII Antibodies
• Anti-SSB Positive
• Antiribonuclear Protein-Positive
• Phospholipid Antibody Positive
• Levels of IgG Increased
• Proportion of HLA-DR+ and CD57+ T Cells Increased
• B-Cell Count Increased
• Number of Peripheral CD3+ T Cells Increased