Sitemap | Symptoma

38801 to 38900 most common queries

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

Hypocalciuria or Normocalciuria Hyperchloridura Nephrocalcinosis Is Absent Renal Potassium Wasting Hyperactive Renin-Angiotensin System Onset of Dystonia at 12 Years Mutation in the Beta Actin Gene Antecollis Limited Vision Small for Age Subnormal Cognition Generalized Dopa-Unresponsive Dystonia Recurrent Hypoglycemia Plasma ACTH Elevated Hammer Toe - 2-4 Toes Canine Radiculomegaly Laterally Curved Eyebrows Autosomal Recessive Form Later Onset May Occur Onset Usually within First Weeks of Life Large, Pale Cells in Adrenal Glands Allelic Disorder to Orofaciodigital Syndrome Type 1 See Also Simpson Golabi Behmel Syndrome Type 1 - SGBS1 Death Often in Infancy Trilobate Left Lung Short Distally Tapering Fingers Axillary Webbing Decreased Joint Extension (Shoulder, Elbow, Knee, Ankles) Brisk Deep Tendon Reflexes Metaphyseal Cupping - Metacarpals and Phalanges Large Broad Hands Peg-Like Central Prominence of Distal Tibial Metaphyses Cone-Shaped Capital Femoral Epiphyses Short Hypoplastic Femoral Necks Inferior Rib Flaring Widened Subarachnoid Spaces Female Carriers May Be Mildly Affected Long Thin Toes Long Straight Nose Deep, Sunken Eyes Square Prognathic Jaw Loss of Ability to Walk within First Decade Late Ambulation Females: Milder Phenotype, Later Onset of Cardiac Symptoms Sudden Death of Affected Females in Fifth Decade Mutation in the Lysosome-Associated Membrane Protein 2 Gene Cardiomyocytes with Irregular Nuclei Hypertrophic Cardiomyocytes (Biopsy) Decreased Contractility LAMP2 Protein Severely Decreased or Absent Vacuoles Are Autophagocytic Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy) Noncompaction of the Heart Small 3rd and 4th Metacarpals Broad Femoral Heads and Necks Small Irregular Proximal Femoral Epiphyses Absent Mitogenic Response to Staphylococcus Aureus Cowan Antigen T-Cell Count Normal Normal Lymphocyte Response to Pokeweed Mitogen and Conconavalin a Specific Antibody Titers Low IgA, IgE, IgG and IgM Normal Long Prominent Eyelashes Infancy-Onset Short Trunk and Short Stature Lower Limb Hypotrophy Memory, Attention, Language Limited Mean Age of Onset: 20.6 Years Diffuse or Nodular Thyroid Goiter Thyroid Volume 22-66 ml - Adults Muffled Voice Progressive Pes Cavus Large Eyebrows 'Pugilistic Facies' Caused by Mutation in the WAS Gene No Eczema Mean Platelet Volume Normal CD8+ T Cells Increased Susceptibility to Infections Start in the First Year of Life Hypoxemia and Cor Pulmonale Rudimentary Adenoids Immunoglobulins Decreased or Undetectable Plasma Cells Absent in All Organs B Lymphocytes in All Organs Absent Increased Incidence of Rectosigmoid Cancer Spasticity - Hyperreflexia Basal Ganglia Dysfunction Age at Onset of Self-Injurious Behavior: 2 Years Partial Deficiency of Hypoxanthine Phosphoribosyltransferase Associated Anomalies in 70% of Patients Onset of Skin Abnormalities at Birth, in Infancy, or Childhood A Nonspecific Marker of Somatic Mosaicism Chromosomal Mosaicism Creatine Increased Urine Creatine Increased Impaired Creatine Uptake in Fibroblasts Unfolded Superior Helices Behavioral Changes Consistent with an Autistic Disorder Severe Speech and Language Delay Large, Bulbous Nose Small Downslanting Palpebral Fissures Hypoplastic Ear Lobes