30101 to 30200 most common queries

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

• Recurrent Cutaneous and Systemic Pyogenic Infections
• Giant Granules in Schwann Cells
• Diffuse Brain and Spinal Cord Atrophy (CT or MRI)
• Nerve Conduction Velocities Severely Decreased
• Progressive Intellectual Decline
• Onset of Lymphedema before Puberty
• Infantile Malabsorption
• Inactivating Mutations in the PTH1R Gene
• Mutations in the Parathyroid Hormone Receptor 1 Gene
• Advanced Skeletal Maturation
• Generalized Sclerosis
• Severe Midface Hypoplasia
• Death at Birth or Shortly after Birth
• 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
• 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
• Proportion of HLA-DR+ and CD57+ T Cells Increased
• B-Cell Count Increased
• Number of Peripheral CD3+ T Cells Increased
• Slow Functional Deterioration despite Severe MRI Findings
• Caused by Mutation in the MLC1 Gene (MLC1)
• Vacuolizing Myelinopathy
• Large Subcortical Cysts in Frontal and Temporal Lobes
• Distinct Disorder from Marinesco Sjogren Syndrome
• Prevalent in Bulgarian Gypsies
• Neuropathy Becomes Apparent in Childhood
• Bimaxillary Dentoalveolar Protrusion
• Thickening of Perioral Tissues
• Axonal Degeneration in Older Patients
• Nerve Biopsy Shows Hypomyelination
• Upper Limb Motor Neuropathy Occurs Later
• Motor Neuropathy Beginning in Lower Limbs
• Occurs in the Absence of Trauma
• A Subset of Patients Have Hearing Loss
• Facial Muscle Weakness of Muscles Innervated by CN VII
• Mutation in the KIF5A Gene
• Upper Limb Sensory Loss May Occur Later
• Upper Limb Weakness May Occur Later
• Mutations in the SLC4A4 Gene
• Red Cell Osmotic Resistance Increased
• Normal Distal Tubule Acid Excretion
• Bicarbonate Wasting Renal Tubular Acidosis
• Onset between Age 30-50 Years
• Mutations in the Ceruloplasmin Gene
• Ceruloplasmin Decreased or Absent
• Two Loci Described: EEC1 and EEC3
• Heterogeneous Disorder
• Caused by Mutation in the Tumor Protein P63 Gene
• Absent Stensen Duct
• Lacrimal Duct Abnormalities
• Mental Retardation (7%)
• Laterally Displaced Hair Whorl
• Vertically Inserted Eyelashes
• Death Usually Occurs by 12 Months of Life
• Onset within First 3 Months of Life
• Ventilator Dependence with Inability to Wean