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31801 to 31900 most common queries

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PHGDH Activity in Fibroblasts Decreased Plasma Serine Decreased - Fasting Hypsarrhythmia or Severe Multifocal Epileptic Abnormalities with Poor Background Activity Caused by a Defect in Bile Acid Transport Bridging Fibrosis Shown on Biopsy Biopsy Shows Giant Cell Transformation Intracanalicular Cholestasis (Biopsy) Caused by Mutations in the Sequestosome 1 Gene Allelic to Autosomal Recessive Deafness Type 23 Beta-Cell Dysfunction of Varying Degrees Variable Insulin Resistance HLA Class II Alleles Specify Ketosis-Prone Diabetes Subgroup Susceptibility Conferred by Mutation in the Paired Box Gene 4 Autoimmunity to Pancreatic Beta Cells Allelic to Spastic Paraplegia Type 13 Exacerbation during Febrile Episodes Usually Fatal in First 2 Decades Onset between Birth and 3 Months of Age Lactate May Be Increased during Encephalopathic Exacerbations Intermittent Increase of Urinary Ethylmalonic Acid Hypomyelinating Leukodystrophy Abnormal Myelination (MRI) No Head Control Gamma-GGT Increased End Stage Liver Disease before Adulthood Portal Fibrosis (Biopsy) Severe Hypovolemia Mutation in the Eyes Absent Protein 1 Gene Hypoplasia of the Cochlea Unconnected or Fused Stapes and Incus Hyperkeratotic Plaques Bilateral Parietal Foramina Craniosynostosis - Coronal Lamboid Sagittal Large Anterior and Posterior Fontanels Pruritus (Major Feature) Endocrine Abnormalities Confined to Kidney Caused by Mutation in the Syntaxin 16 Gene (STX16) Mutation in the GNAS-AS1 Gene Symmetric Spastic Diplegia Patients of Brazilian Origin Have a Pure Cerebellar Atrophy Pentanucleotide Repeat Expansion in the ATXN10 Gene Platelet Glycoprotein Ib Decreased Absence of Sialyl-Lewis X from Neutrophil Membranes Abnormal Platelets with Giant Morphology Recurrent Hemorrhagic Events Transferrin Isoelectric Profile Normal See Also Dominant DEB - an Allelic Disorder with a Similar Phenotype Blistering Frequency May Decrease with Age Blistering and Erosions on Extensor Surfaces or Over Bony Prominences Blisters Are Precipitated by Minor Skin Trauma Mutation in the Collagen Type 7 Alpha 1 Gene Decreased Staining for Collagen VII Hypotrophic Anchoring Fibrils Number of Anchoring Fibrils at Dermal-Epidermal Junction Decreased Tissue Separation below Lamina densa of Basal Membrane Albopapuloid Lesions May Occur Lichenified Lesions Intense Pruritis Recurrent Blistering Mutation in the Coiled Coil and C2 Domains Containing Protein 2A Mutation in the Solute Carrier Family 34 Member 1 Gene Increased Serum 1,25-Dihydroxyvitamin D Severe to Profound Prelingual Hearing Loss Incomplete Atretic Plate Malformed Ossicular Chain Near Stenosis of Bony Portion of Auditory Canal Severe Narrowing of Cartilagenous Auditory Canal Mutation in the Homeobox A2 Gene See also Autosomal Dominant Form (176860) Occasional Late Onset of Symptoms with Homozygosity May be Lethal in Infancy if Untreated Mutation in the Protein C Gene Intraabdominal Venous Thrombosis Slow Progression Mean Age of Onset 16 to 19 Years Caused by Mutation in the Protein S Gene Some Patients Show Rapid Disease Progression Onset in Third to Fifth Decade of Life Mutation in the PI12 Gene Neuronal Inclusion Bodies Stain for Neuroserpin Collins Bodies in Neurons of the Cerebral Cortex Visuospatial Skills Impaired Most Patients Wheelchair-Bound from 2nd-4th Decade of Life Mutation in the SGCB Gene Skeletal Muscle Shows Decreased Sarcoglycan Proteins Skeletal Muscle Shows Dystrophic Changes Proximal Muscle Weakness (Limb Girdle) Caused by Mutation in the Spatacsin Gene Atrophy of the Thenar and Hypothenar Muscles Loss of Myelinated Fibers (Nerve Biopsy) Peripheral Motor and Distal Sensory Neuropathy Allelic to Infantile Sialic Acid Storage Disorder Painful Muscle Cramps Loss of Peripheral Nerve Axons Loss of Dorsal Root Ganglion Cells Tetraplegia in Advanced Disease Mild Loss of Touch and Temperature Hypo or Areflexia Allelic to Marshall Syndrome Mutation in the CYLD Gene