27101 to 27200 most common queries

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

• Retinal Vasculogenesis Impaired
• 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 - HCO₃ 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