38301 to 38400 most common queries

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

• Abnormal Argyrophilic Neurons in the Myenteric and Submucosal Plexuses
• Progressive Respiratory Insufficiency
• Many Cases due to De Novo Mutation
• Partial or Total Absence of Lower Eyelashes
• Talipes Foot Deformities
• Adult Male Height: 136-161 cm
• TDP43-Positive Inclusions
• Persistent Notochordal Canal
• Mutation in the Phospholipase C Beta 4 Gene
• Mutation in the CD8A Gene
• Marked Delay in Epiphyseal Appearance
• Average Height in Adulthood
• Proximal Renal Tubular Defect
• Contiguous Gene Syndrome Caused by Deletion of 18p11.21-p11.1
• Muscle Biopsy Shows Type 1 Fiber Predominance
• Hyperplasia of Pancreas
• Decreased Chest Wall Compliance due to Muscular Hypertonicity
• Abnormal Gastrointestinal Motility
• About 25% of Cases due to De Novo Mutations
• VCP-Positive Inclusions
• Prenatal-Onset Short Stature
• Vertical Clefting of the Vertebral Bodies
• Mutation in the GUCY2C Gene
• Frequency of Micturition
• Recurrent Bacterial Respiratory Infections
• Very Short Long Bones
• Delayed Growth Spurt in Puberty
• Each One Patient with Homozygous and Heterozygous Mutation
• Caused by Mutation in the Keratin 9 Gene (KRT9)
• No Clinical Details Provided by the Authors
• Three Unrelated Patients Reported (as of January 2010)
• Rare Aneurysm of Other Aortic Segments
• Omphalocele - Exomphalos
• Generalized Proximal and Distal Muscle Weakness
• Malformation of the Insular Cortex
• Alcohol May Alleviate Symptoms
• Age of Onset Usually at Age 1 Week to 2 Years
• Prolonged Diarrhea in Infancy
• Vaginal Discharge
• Mutation in the Low Affinity Receptor IIIa for the Fc Fragment of IgG
• Medial and Lateral Spurs
• Isolated Absence of CD8+ T Cells
• Enlarged Testicles in Adulthood
• Progressive Hair Loss
• Asphyxiating Thoracic Dystrophy or Jeune Syndrome
• Caused by Mutation in the Keratin 1 Gene
• Scapuloperoneal Amyotrophy
• Generalized Overgrowth
• Mutation in the Integrin Alpha 7 Gene
• Emphysema in Most Severe Presentation
• Subcortical Band or Laminar Heterotopia in Female Carriers
• Mild Hyperammonemia
• Microcolon on Contrast Enema
• Defective NK Function in Spontaneous Cellular Cytotoxicity
• Normal Testicular Volume in Childhood
• Central Hypoventilation (Late in Disease, Often Fatal)
• Normal Sural Nerve Biopsy
• Extreme Platyspondyly
• Hematologic Parameters Normal
• Erythrocytes Increased
• Hyperintensities in Basal Ganglia and/or Thalamus
• Aggregated Tonofilaments at Cell Surface
• Average Birth Weight: 4 kg
• Lack of Integrin Alpha-7 Staining
• Thickened Alae Nasi and Columella
• Age of Onset: Birth to 15 Months
• Caused by Mutation in the Aggrecan 1 Gene
• Inspissated Meconium in Distal Ileum
• Fibrillin-1 Immunostaining in the Dermis Decreased
• Numbers of NK Cells Decreased or Normal
• Testosterone Levels in Adulthood Normal
• Normal Sensory Action Potentials
• Onset in Fourth to Fifth Decade
• Hemoglobin Increased
• L-Transferrin Decreased
• Thin Cortex Bone
• Cytolysis of Keratinocytes in Spinous and Granular Layers
• Growth Parallels Curve at or above 95%
• Dwarfism - Identifiable at Birth
• Biotin Normal
• Hypotonic Midface
• Progressive Osteoarthropathy (Early Onset)
• Absence of Inner and Outer Dynein Arms of Cilia
• Normal Compound Motor Action Potentials
• Testosterone Increase in Puberty Delayed
• Failure to Pass Meconium after Birth
• Long, Narrow Feet
• Lymphoproliferation
• Mutation in the CACNA1SGene
• Apnea
• Poor Muscle Mass
• Mild Neurocognitive Impairment
• Average Birth Length 52.6 cm
• Sclerotic Vertebral Bodies
• Large Irregularly Shaped Keratohyalin Granules
• Mild Dysmorphic Features
• No Nystagmus
• Mutation in the Leucine Rich Repeat Containing Protein 50 Gene
• Two Unrelated Boys Reported with Relatively Mild Phenotype
• Mild to Moderate Hyperammonemia