38101 to 38200 most common queries

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

• Intracellular Redox Disturbance
• Lysine Increased
• Alanine Increased
• Pyruvate Carboxylase Activity Decreased
• Poor Myelination
• Cystic Lesions Consistent with Leigh Syndrome
• Mutations in the PKRL Gene
• Erythrocyte Osmotic Fragility Increased
• Severity of Anemia Can Range from Mild to Life Threatening
• Erythrocyte Pyruvate Kinase Activity Decreased
• Frequency of Infections Decreases after 3 Years of Age
• Lewis A and B Negative Cells
• Red Blood Cells Lack H-Antigen
• Bombay Blood Phenotype
• Neutrophilia - Both Basal and during Infections
• Absence of Pus Formation at Site of Infection
• Absent Sialyl-Lewis X Ligand Expression
• Neutrophil Adherence Mildly Decreased
• Neutrophil Motility Markedly Reduced
• Angiokeratomas of Soles
• Telangiectasia (Soles)
• Gingival Biopsy Shows Hyperkeratosis Acanthosis Papillomatosis
• Gingival Fibromatosis
• Fibroepithelial Hyperplasia of Labia Minora
• Death in the First Few Weeks of Life
• Absent Bone Marrow Myeloid Elements
• Absent Humoral Immunity
• Lymphoid Hypoplasia
• Pleocytosis in Cerebrospinal Fluid Especially Lymphocytes
• Reduced T Cell Cytotoxicity
• NK Cell Cytotoxicity Decreased
• Activated HLA DR+ T Cells in Peripheral Blood
• Midline Occipital Bone Defect
• Subependymal Heterotopic Nodules
• Insulin Receptor Binding Decreased
• Sparse Fine Hair
• Ridged Fingernails
• Bilateral Subretinal Masses
• Mutation in the ESCO2 Gene
• Silvery Blonde Scalp Hair
• Nuclear Morphology Abnormal
• Reduction in Number of Toes
• Absence or Reduction in Length of Femur Tibia or Fibula
• Absence or Reduction in Length of Humerus, Radius or Ulna
• Tetraphocomelia
• Hypomelia
• Narrow Naris
• Absent Earlobe
• Rudimentary Gallbladder
• Postnatal Growth Deficiency
• Birth Weight 1.5 - 2.2 kg
• Birth Length Less than 40 cm
• Labia Minora Enlarged
• Epiglottis Absent or Abnormal
• Short Round Larynx
• Hypoplastic Phalanges (First Digit)
• Lower Central Incisors Absent
• Long Palpebral Fissures
• Flat Facial Profile
• Short Stature - Postnatal Onset
• Atrophic Nails
• Poikiloderma
• Erythematous Skin Lesions In Infancy
• Forearm Reduction Defects
• Multiple Crown Malformations
• Small Saddle Nose
• Juvenile Zonular Cataracts
• Silvery Blond Hair
• Absence of Radius and Ulna
• Absent Lobules
• Hypoplastic First Metacarpals
• Advanced Ossification of Carpal Bones
• Dumbbell-Shaped Short Long Bones
• Snail-Shaped Ilia
• Sacral Stenosis
• Round Vertebral Bodies
• Stillborn or Lethal in the Neonatal Period
• Short Splayed Ribs
• Often Transient Facial Palsy in Infancy
• Sudden Death Secondary to Impaction of Medulla Oblongata
• Majority of Cases in the Afrikaner Population of South Africa
• Caused by Mutations in the Sclerostin Gene (SOST)
• Deviation of Terminal Phalanges
• Lack of Diaphyseal Modeling
• Cortically Dense Long Tubular Bones
• Sclerotic Pelvis
• Sclerotic Pedicles
• Occlusion of Cranial Foramina
• Infantile-Onset Cranial Hyperostosis
• Prominent Asymmetric Mandible
• Broad Flat Nasal Root
• Deafness Secondary to Cranial Hyperostosis
• Frontal Prominence
• Mild or Moderate Gigantism
• Broad Dense Ribs
• Broad, Dense Clavicles
• Facial Palsy Secondary to Cranial Hyperostosis
• Caused by Mutations in the Seipin Gene
• Nearly Complete Absence of Mechanical Adipose Tissue
• See EBN1 for an Autosomal Dominant Form