Sitemap | Symptoma 35301 to 35400 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Urinare Tiglylglycine Increased Urine 2-Methylacetoacetic Acid Increased Urine 2-Methyl-3-Hydroxybutyric Acid Increased Nystagmus in Infancy Hypergonadotropic Hypogonadism in Males Death at 20 to 40 Years Onset at Age 4-10 Years For Similar Autosomal Dominant Form See Type A Characterized by Progressive Myoclonic Epilepsy Onset in Adulthood (3rd-4th Decade) Granular Osmiophilic Deposits in Cells Leukoencephalopathy on CT and MRI Death at Age 10-15 Years Onset at 2 to 4 Years Extraneuronal Autofluorescent Lipopigment Increased Developmental Regression after Age 2 Years Urinary Excretion of Calcium and Phosphate Decreased Osteocalcin Increased Large Follicles around Developing Teeth Crowns Age at Onset 3 to 23 Years EMG Shows Evidence of Denervation Spasticity of Lower and Upper Limbs Mutation in the SRY-Box 2 Gene Growth Failure Mesial Temporal Brain Malformations Generalized Reduction of White Matter Small Orbits Neonatal Femoral Fractures Radiohumeral Synostosis Coronal and Lambdoidal Craniosynostosis Mutation in the Apolipoprotein C II Gene Cloudy or Pink Blood (Lipemia) Fasting Chylomicronemia Plasma Apolipoprotein C-II Decreased Pyrimidinuria Diaminoaciduria (Arginuria, Lysinuria, Cystinuria, Ornithinuria) Hyperarginemia Progressive Spastic Quadriplegia Hepatic Argininosuccinase Deficiency Plasma Citrulline High Absent or Sparse Dermal Ridges Depressed Nasal Tip Poorly Folded Ears Small, Posteriorly Rotated Ears Rigid Expressionless Face Stillborn (30%) Small or Abnormal Placenta Sclerotic Vertebral Endplates Enlargement of the Proximal Femoral Epiphysis Narrowing of Joint Spaces Onset of Symptoms at Age 2-6 Years Carrier Frequency in Finland 1:40 98% of Finnish Cases due to One Mutation Increased Frequency in the Finnish Population Aspartylglucosaminuria - Activity Little to Absent Flattening and Anterior Beaking of Vertebral Bodies Crystal-Like Lens Opacity Frequency 1 in 100,000-130,000 Live Births Death in Infancy due to Pulmonary Insufficiency Relatively Short Fibulae Relatively Short Ulnae Irregular Metaphyses Sciatic Notch Spur Early Ossification of Capital Femoral Epiphyses Trident Acetabular Roofs Hypoplastic Iliac Wings (Infancy) Bulbous Irregular Rib Ends Long and Narrow Thorax Hypersensitivity to Ionizing Radiation Ataxia Becomes Evident at the End of the First Year of Life Progeric Hair Changes Scleroderma-Like Skin Changes Progeric Skin Changes Immunoglobulin Antibodies Present Monomeric IgM IgG Levels Reduced - Particularly the IgG2 Subclass Increased Levels of Carcinoembryonic Antigen Cells with IgM Receptors Decreased Levels of T Cells Bearing Gamma-Delta Antigen Receptor Increased Reduced CD4+ T Cells Normal Numbers of B Cells Increased Risk in Heterozygotes Cerebellar Cortical Degeneration Oculomotor Apraxia Is Not Always Present Onset is Usually in Childhood or Adolescence Caused by Mutation in the Aprataxin Gene Hypoalbuminemia (in 83%) Number of Large Peripheral Myelinated Nerve Fibers Decreased Nerve Biopsy Shows Axonal Degeneration and Axonal Sprouting Severe Axonal Sensory and Motor Peripheral Neuropathy Dementia in a Subset of Patients Mental Deterioration in a Subset of Patients Choreoathetosis More Frequent at Disease Onset Mosy Patients Become Wheelchair Bound after 10 Years Severe Cerebellar Ataxia Polydactyly (Major Feature) Small Tooth Roots Major Renal Anomalies Learning Disabilities (major) Majority of Children Die at Age 6 Months to 5 Years
