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36901 to 37000 most common queries

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

Beta Glucuronidase Deficiency in Fibroblasts and Leukocytes Anterior Beaking of Lower Thoracic and Lumbar Vertebrae Variable Degree of Corneal Opacities Flaring of Lower Ribs Most Patients from Finland Weak High-Pitched Voice Venous Pressure Elevated Cutaneous Naevi Flammei Fibrous Dysplasia - Especially Tibia J-Shaped Sella Turcica Hypodontia of Second Bicuspid Relatively Small Tongue Deep Broad Nasal Bridge Retinal Pigmentation with Dispersion Decreased Yellowish Dots in Ocular Fundi Mild Hypertelorism Birth Weight 1.5-2 SD below Mean Birth Length 1.5-2 SD below Mean Adult Female Height 126-151 cm Adult Male Height: 136-161 cm Prenatal-Onset Short Stature Age of Onset Usually at Age 1 Week to 2 Years Mild Hyperammonemia Age of Onset: Birth to 15 Months Biotin Normal Mild to Moderate Hyperammonemia Organic Aciduria Electroretinogram Decreased or Absent High Visual Evoked Potentials to Flash Exon 7 of SMN1 Is Absent in 95.6% of SMA1 Patients Age at Onset: Birth to 6 Months Initially Normal Motor Conduction Studies Facial Muscles Spared Affected Children Are Unable to Sit without Support Individuals Develop Ability to Stand and Walk Presentation at Age >18 Months Child often Sits Unsupported but Never Ambulates Death due to Respiratory Infection or Failure Death between 2 Years of Age and Young Adulthood Presentation between 6 - 18 Months Gradual Progression Wheelchair-Bound at Age 20-30 Years Rarely Calf Pseudohypertrophy Mean Age of Onset 30 Years Neuropsychologic Impairment Leukocyte Inclusion Bodies - Dohle-Like Bodies Bleeding Time Mildly Prolonged (10-12 Minutes) Median Mean Platelet Volume 18fl No Cataracts No Deafness No Nephritis Clinical Overlap with Dejerine-Sottas Syndrome Mutation in the Myelin Protein Zero Gene Mutation in the EGR2 Gene Severe Hypomyelination (Nerve Biopsy) Rarely Onion-Bulb Formations (Nerve Biopsy) Mutation in the Activation Induced Cytidine Deaminase Gene Defective Generation of Somatic Hypermutations Giant Germinal Centers in Lymph Nodes IgM Normal to Elevated IgA and IgG Decreased to Absent Age of Onset 17 to 68 Years Age of Onset of Upper Limb Involvement 10 - 43 Years Hypomyelination on Nerve Biopsy Threshold for Electrical Stimulation Increased Distal Limb Paralysis 'Dished-Out' Midface Square Facial Outline Postnatal Macrocephaly Nevus Flammeus (Eyelids and Nape of Neck) Craniosynostosis - Coronal and Metopic Suture Nevus Flammeus (Eyelids) Thin Philtrum Death Secondary to Respiratory Insufficiency Caused by Mutation in the Troponin T1 Gene Progressive Proximal Contractures (Shoulders and Hips at Birth) Myofiber Degeneration (Muscle Biopsy) Muscle Biopsy Shows Myofibrillar Disruption Type I Muscle Fiber Predominance Muscle Biopsy Shows Nemaline Bodies on Gomori Trichrome Staining Tremors Subside Over the First 2 to 3 Months of Life Severe Pectus Carinatum Mean Age of Onset 31 Years Mutation in the Protein Kinase C Gamma Polypeptide Gene Saccadic Intrusions Vibration Sense in the Feet Decreased Focal Dystonia See Also PGL1 Cells of Origin Pertain to the Diffuse Neuroendocrine System Mutations in the SDHC Gene Hoarse Voice Caused by Tumor Impingement Palpitations with Pheochromocytoma Vocal Cord Paralysis due to Tumor Impingement Catecholamines Elevated Rarely Malignant Diaphoresis (with Pheochromocytoma) Pulsatile Tinnitus (Tympanic Paraganglioma) Cranial Nerve Palsies Can Arise with Head and Neck Paragangliomas Headache with Pheochromocytoma Delayed Acquisition of Motor Skills