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

Thin Long Eyebrows Progressive Severe Microcephaly Unable to Grasp Objects Insulin-Dependent Diabetes Mellitus Fiber Necrosis Small and Incompletely Fused Muscle Fibers Seen on Biopsy Onset in First Days of Life Mutation in the DNM1L Gene Defect in Mitochondrial and Peroxisomal Fission Fibroblasts Show Elongated Tangled Tubular Mitochondria Fibroblasts Show Decreased Peroxisomes Arranged in Rows Brain MRI Shows Abnormal Gyral Pattern in Frontal Lobes Little Spontaneous Movement No Developmental Progress Mutation in the Complement Component 4A Gene Mutation in the WDR19 Gene Lung Capacity Decreased Recurrent Asthma Thick Nails Bone Marrow Hypoplasia Small Second through Fifth Toes Short Phalanges (2nd and 5th Digits) Bilateral Hip Dysplasia Sagittal Craniosynostosis Taurodontism of Molars Bony Protrusion of Hard Palate Congenital Nyctalopia Retinitis Pigmentosa with Preserved Central Vision Full Cheeks Short Thick Ribs Short Narrow Thorax Sclerotic Glomeruli Mild Proteinuria Mutation in the WD Repeat Containing Protein 19 Gene Restrictive Reduced Lung Volume Small Dysplastic Epiphysis of Distal Tibia Small Dysplastic Epiphysis of Distal Radius Short, Broad Diaphyses Spur-Like Protrusions at Acetabular Roof Wide Bridge Attenuated Arteries Wide Intrahepatic Bile Ducts Diffuse Sclerotic Glomerulonephritis 2/6 Patients Wheelchair-Bound by Age 20 Years Progresses to Involve Upper Limbs Onset in Lower Limbs Onset at Age 1-2 Years Motor Unit Action Potentials Enlarged Denervation and Renervation (Neurophysiologic Studies) Distal Muscle Weakness of Upper and Lower Limbs Onset at Age 36 Years Response to GM-CSF Impaired GM-CSF Increased Hearing Loss and Hoarseness Occur Later Mean Age at Onset 10.6 Years Mutation in the MYH14 Gene Hoarseness (53%) Variation of Fiber Size and Shape Degenerating Fibers Muscle Biopsy Shows Small Rounded Fibers MRI Shows Fatty Replacement Distal Muscle Atrophy (Lower Limbs > Upper Limbs) Peroneal Nerves Show Severely Reduced CMAPs Sensory Nerve Conduction Velocity Mildly Decreased or Normal Voluminous Stools Absorption of Dietary Fat Decreased Combined Deficiency of Pancreatic Lipase and Colipase Pancreatic Colipase Absent or Reduced Pancreatic Lipase Absent or Reduced Diarrhea Worsens as Severity of Skin Disease Increases Mutation in the ADAM17 Gene Cuticle of Hair Markedly Damaged Severe Weathering of Hair Shaft Short or Broken Hair Frequent Paronychia due to Candida and Pseudomonas Infections Perivascular Lymphocytic Infiltrate in Papillary Dermis Pigment Incontinence Patchy Vacuolization of Basal Layer Flares of Erythema, Scaling and Pustules Psoriasiform Erythroderma No Evidence of Immunodeficiency Moderately Elevated IgE Recurrent Blepharitis due to Infection with Staphylococcus Aureus Wiry and Disorganized Eyelashes Wiry and Disorganized Eyebrows Recurrent Otitis Externa due to Infection with S. Aureus Mucosal Eosinophilia Crypt Hyperplasia Plasma Cell Duodenitis Malabsorptive Diarrhea Mutation in the BAP1 Gene Melanocytes with Large, Vesicular Nuclei of Varying Shape Prominent Nucleoli Abundant Cytoplasm Dermal Tumors Composed of Epithelioid Melanocytes Malignant Mesothelioma after Asbestos Exposure Caused by Mutation in the Micro-RNA 17 Host Gene Cutaneous Syndactyly 2-3 and-or 4-5 Mutation in the Neurexin 1 Gene Self-Harming Behaviors