38801 to 38900 most common queries

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

• Mutation in the CLCNB Gene
• 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