Sitemap | Symptoma 41301 to 41400 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Responsive to Treatment May Have Increased Serum Parathyroid Hormone 1-25-Dihydroxyvitamin D3 Increased Curvatures of the Femur, Tibia, Fibula 'Bulging' Epiphyses Thin Cortex Mutation in the BSCL2 Gene Mutation in the GARS Gene Possibly Hammertoes Pes Planus in Some Pes Cavus in Some Mildly Reduced Vibratory Sense in 10% of Patients Motor Symptoms Develop Later - About 5 Years into Illness Subtle Personality and Behavioral Changes Are Presenting Signs Average Duration of Illness: 8 Years Average Age of Onset 57 Years Mutation in the CHMP2B Gene Reclusive Behavior Global Reduction in Cerebral Blood Flow on PET Scan Cortical Neuronal Loss Mutation in the RAB7 Gene Dystrophic Toenail Ulcers Often Lead to Infection and Amputation Distal Ulcers due to Sensory Neuropathy Distal Osteomyelitis or Necrosis due to Sensory Neuropathy Marked Distal Sensory Impairment Normal Sialophorin Gene Small and Large Vessel Vasculitis CD43 Defectively Expressed on Surface of Blood Cells Small Platelet Size IgG Normal CD8+ Cells Subset Decreased CD4+ Cell Subset Decreased Decreased CD3+ Cells Subset Abnormally Delayed Hypersensitivity in Skin Test Moderately Depressed Antibody Response to Polysaccharide Antigens Shovel-Shaped Maxillary Central Incisors Anterior Overbite Long, Slender Phalanges Long Slender Metacarpals Long Thumbs Hypoplastic Distal Digital Creases Slender Hands Hypoplasia of Distal Ulna Slender Long Bones Elbow Contracture Small Anterior Cranial Fossa Joint Contractures (Symptom Improves with Time) Downslanting Eyebrows Cerebellar Enlargement Caused by Mutation in the Proprotein Convertase 1 Gene Proglucagon Increased Increased Plasma Progastrin Insulin Decreased or Normal Small Intestine Biopsy Shows Villous Atrophy Malabsorption - Small Intestine Early-Onset Obesity Impaired Processing of Proopiomelanocortin Joint Replacement Often Necessary Onset of Symptoms in Childhood with Stiff, Painful Joints Mild Variability in Muscle Fiber Size Creatine Phosphokinase Mildly Increased Late Ossifying Epiphyses Impaired Synthesis of Sulfated Proteoglycans by Fibroblasts No Cartilage Staining with Toluidine Blue Metaphyseal Spurring Marked Shortness - Broad Tubular Bone Severe Micromelia Unossified Ischium and Pubis Slightly Less Ossified than Expected for Gestational Age Often Stillborn Occasionally Rib Fractures Symptoms Precipitated by Stress, Exertion, Fatigue, Alcohol Onset at Age 2-15 Years Second Most Common Form of Usher Syndrome Type 1 Nonsyndromic Disorder Caused by Mutations in the Otoferlin Gene (OTOF) U- or Bowl-Shaped Audiogram Absence of Acoustic Reflex Absent Auditory Brainstem Response Severe to Profound Sensorineural Deafness Upper Limb Defects Cervicothoracic Vertebral Defects - Especially C5-T1 External Ear Defects Short Stature (Adult Height <152 cm) Absent Proximal 2/3 of Vagina Absent or Hypoplastic Uterus Associated with the Tau H1 Haplotype Phenotypic Overlap with Frontotemporal Dementia May Show Good Response to Levodopa Median Survival: 5-7 Years Autosomal Dominant with Incomplete Penetrance Frontal Release Signs Tau Inclusions Are 'Flame-Shaped' or 'Tuft-Like' Tau Immunoreactive Inclusions in Neurons and Astrocytes Limb Dystonia (18%) Tremor (30%) Small Dysplastic Nails Hypoglycosylation of Plasma Glycoproteins Abnormal Isoelectric Focusing of Transferrin
