35301 to 35400 most common queries

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

• Urine 2-Butanone Increased
• 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)