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27101 to 27200 most common queries

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

Incomplete Penetrance Mutation in the RAD51 Gene Mutation in the DDOST Gene Disordered Myelination Caused by Mutation in the Histidyl-tRNA Synthetase Gene Repetitive Eye Blinking Accompanying Visual Hallucinations Diffuse Pigmentary Stippling of Peripheral Retina Bull's Eye Maculae Fine Horizontal Nystagmus Progressive Visual Impairment Starting Early Childhood Progressive Hearing Loss Starting in Infancy Psychomotor Agitation Accompanying Visual Hallucinations Inappropriate Laughter Accompanying Visual Hallucinations Nonsensical Speech Accompanying Visual Hallucinations Visual Hallucinations Precipitated by Infectious Illness Mild Truncal Ataxia Hyperactive Patellar Tendon Reflexes Mutation in the SNIP1 Gene Subglottic Stenosis Lumpy Skull Surface Broad Lower Face Poor Feeding (Neonatal Period) Multifocal Intractable Seizures Irregular Cortical Ribbon Non-Recordable or Severely Reduced Rod Pattern (ERG) Bone Spicule-Like Pigmentation Pigment Clumping Waxy Optic Disc Mutation in the BRCA1 Associated ATM Activator 1 Gene Depressed Frontal Bones Small or Absent Fontanels Episodic Myoclonic Spasms Background Slowing Multifocal Seizures Continuous Refractory Seizures Lack of Volitional Movement Axial and Limb Rigidity Hyperchloremic Metabolic Acidosis - HCO<sub>3</sub> 15.5 +- 2.0 mM Hypertension at <18 Years (94%) Diagnosis at Age 9±6 Years Caused by Mutation in the Cullin 3 Gene (CUL3 603136-0001) Hyperchloremia - Mean 114 mM Hyperchloremic Metabolic Acidosis (HCO3: 17.6±1.5 mM, Recessive) Age at Diagnosis 26 +- 14 Years for Recessive Disease Age at Diagnosis 24 +- 18 Years for Dominant Disease Caused by Mutation in the Kelch-Like Protein 3 Gene Age at Onset Ranges from 16 Years to 65 Years Diminished or Extinguished Responses on ERG Pigment Migration Arterial Attenuation Degeneration of Retinal Pigment Epithelium Good Visual Acuity Only 13% Have Developed Hypertension by Age 18 Years Age at Diagnosis 36 ± 20 Years Mutation in the WNK Lysine Deficient Protein Kinase 1 Gene Hyperkalemia - 5.8 +- 0.8 mM Mild Hyperchloremic Metabolic Acidosis Only 10% Develop Hypertension at 18 Years of Age or Less Age at Diagnosis 28 +- 18 Years Mutation in the WNK Lysine Deficient Protein Kinase 4 Gene Hyperkalemia - 6.4 +- 0.7 mM Mutation in the ATPase Family Gene 3-Like Protein 2 Gene mtDNA Decreased Large Lipid Droplets Skeletal Muscle Biopsy Shows Misplaced Mitochondria Distal Muscle Weakness Affecting the Lower Limbs Distal Muscle Atrophy Affecting the Lower Limbs Mutation in the FREM1 Gene Mutation in the Type 4 Collagen Alpha 2 Gene Structural Brain Anomalies Death Usually in Childhood Mutation in the Solute Carrier Family 33 Member 1 Gene Wide Subarachnoid Spaces Inability to Sit or Walk Independently Liver Enzymes Decrease with Age Triglycerides Decrease with Age Mutation in the Glycerol-3-Phosphate Dehydrogenase 1 Gene Lipoprotein Levels Abnormal Urine Dicarboxylic Acid Transiently Increased Transient Hypertriglyceridemia Septal Formation Hypoplastic Left Ventricle Unbalanced Atrioventricular Septal Defect Mutation in the ABCC6 Gene Hypophosphatemic Rickets Tubular Calcification Calcification of Renal Arteries Cutaneous Symptoms Induced by Cold Exposure or Cooling Symptoms May Decrease after Age 30 Years Lifelong Occurrence Onset in First 6 Months of Life Granulomatous Dermatitis Mast Cell Count Increased Cold-Induced Pruritus Erythema Cold Induced Positive for Antinuclear Autoantibodies Circulating NK Cells Decreased Defective B Cell Class-Switching Circulating B Cells Decreased Mutation in the TMEM138 Gene