Sitemap | Symptoma

30201 to 30300 most common queries

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

Mutation in the MUSK Gene Mild Peripheral Neuropathy 260 kb Duplication on Chromosome 11q12.2-11q12.3 Mutation in the CC2D1A Gene MYH9-Positive Inclusions (IHC) No Leukocyte Inclusion Bodies on Giemsa Staining Moderate to Severe Thrombocytopenia Caused by Mutation in the Paired Box Gene 3 Keloid Formation Mutation in the STAT3 Gene Mutation in the CETP Gene Mutation in the NCSTN Gene Caused by Mutation in the Acid Beta Glucosidase Gene Autoimmune Disorders Mild Onychodystrophy of the Toenails (Occasionally) Markedly Widened Intercellular Spaces Keratin 1-Staining Restricted to Spinous Layer Mild Perivascular Lymphocytic Infiltrate in the Upper Dermis Thickened Granular Zone Nonspecific Basket-Weave Orthokeratosis Well Circumscribed Peeling of the Skin on Hands, Feet, Neck Peripheral and Cytoplasmic Desmoplakin Staining Ichthyosis of Scalp and Flexural Areas Variable Age at Onset: 1.5-27 Years Autoimmune Neutropenia Numbers of B Cells Normal or Reduced Dystonia and Seizures May Persist after Resolution of Episodes Responsive to High Dose Biotin or Biotin-Thiamine Treatment May Be Precipitated by Minor Illness Cortical and Subcortical Hyperintensities Brain MRI Shows Lesions in the Basal Ganglia Caused by Mutation in the Homolog of the Drosophila Dicer 1 Gene Sertoli Leydig Cell Ovarian Tumors May Occur Non-Autoimmune Diabetes Features Usually Appear during Adulthood Bullous Disease Renal Tumors Neural Tissue Tumors Parotid Oncocytomas Caused by Mutation in the Activin A Receptor Type 1 Gene Caused by Mutation in the Beta-3 Gap Junction Protein Gene Transient Migratory, Sharply Outlined Erythema Dwarfism, Mildly Short Limb Type 3 EEG Response Parietooccipital Spikes Followed by Biphasic Slow-Waves Spreading to the Frontal Region Mutation in the SPTA1 Gene Mutation in the COL1A2 Gene Mild to Moderate Short Stature Mutation in the COL5A2 Gene Caused by Mutation in the Type V Collagen Alpha 1 Gene Thin Lax Protruding Abdominal Wall Visible Intestinal Pattern ('Prune Belly') Aplasia of the Abdominal Wall Musculature Wrinkled Abdominal Skin Fetal Urinary Tract Obstruction NBIA1 without Hypobetalipoproteinemia and Acanthocytosis Most Mutations Occur De Novo Marked Phenotypic Variability EEG Later Shows Generalized Spikes or Polyspikes and Focal Spikes EEG May Be Initially Normal Mutation in the ZNF592 Gene Mutation in the Coproporphyrinogen Oxidase Gene MED Is a Heterogeneous Disorder Klippel-Feil Syndrome May be Part of Other Syndromes Including MURCS Association and Sprengel Deformity Mutation in the Growth-Differentiation Factor 6 Gene Mutation in the GCK Gene Onset 13 to 63 Years of Age Orolingual Dyskinesia Neuroaxonal Spheroids Autonomic Features May Occur Frontotemporal/Subcortical Dementia Cognitive Defects Develop Later in the Disease Involuntary Asymmetric Movements Mild Peripheral Retinal Pigmentary Changes Mild Temporal Optic Nerve Pallor Mild Retinal Arteriolar Constriction Marked Macular Degeneration Eventual Loss of Peripheral Vision and Night Blindness Photophobia and Epiphora in Day Light Initial Loss of Central Visual Acuity and Color Vision Phalangeal Duplication Preaxial Brachydactyly Hyperphalangism Functional Symphalangism Short Abducted Thumbs Lobulated Anterior Palatine Rugae Narrow Lower Alveolar Ridge Midline Diastema Wide-Eye Appearance Short Stature (3rd Percentile) Frequency among Individuals of East Asian Descent Increased Fatal Outcome if Untreated Chronic Paranasal Sinusitis Obstructive Respiratory Impairment Pathogenic CAG Repeat Length is 51 to 78 Triplets Normal CAG Repeat Length Is 7 to 32 Triplets Age at Onset 8 to 55 Years Subclinical Sensory or Sensorimotor Neuropathy Upper Extremity Action Tremor Mutation in the ATPAF2 Gene Mutation in the Transmembrane Protein 70 Gene