43401 to 43500 most common queries

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

• Thiamine Decreased
• Lipoprotein Levels Abnormal
• Suppression Parietal Left
• Mean Age at Onset 22 Years
• Virtually No Active Movement at Birth
• Neonatal Seizures due to 2p21del
• Red-Violet Macular Atrophy
• Features Usually Appear during Adulthood
• Progression to Profound Hearing Loss Affecting All Frequencies
• Intraretinal Splitting
• Mutations in the Deafness-Dystonia 1 Gene
• Bulbar Dysfunction (e.g., Dysarthria and Dysphagia)
• Posterior Microphthalmia
• Asthenozoospermia
• Inability to Walk by Childhood or Adolescence
• Total Bilirubin Increase May Occur
• Hallucinations
• Urine Dicarboxylic Acid Transiently Increased
• Sleep EEG Shows Vertex Waves Asymmetry Left Greater than Right
• Pachygyria with Preferential Frontoparietal Involvement
• Recurrent Pneumonia due to Aspiration
• Hypergonadotropic Hypogonadism (HCS)
• Short Thick Diaphyses
• Postlingual Progressive Sensorineural Deafness
• Slightly Increased Alkaline Phosphatase May Occur
• Bullous Disease
• Hearing Loss Initially Affects Mid and High Frequencies
• De Novo Mutations Almost Exclusively on the Paternal X Chromosome
• May Progress to Involve Proximal Muscles
• Epiphyseal Changes in the Proximal Phalanges Mild
• Upper and Lower Neuron Manifestations
• Unexplained Fever
• Septal Formation
• Sleep EEG Shows Generalized Slow-Waves Asymmetry Right Greater than Left
• Tremor
• Virtual Absence of Pyramidal Tracts (WWS)
• Radiolucent Metaphyses
• Mutation in the FOXP3 Gene
• Stage IV: Late Motor Deterioration, Ambulation Ceases
• Renal Tumors
• Tenascin X Deficiency
• Creatine Kinase Normal or Increased
• Early Satiety due to Mass Effect of Liver
• Onset in Infancy - First Year of Life
• May Be Same Entity as Elejalde Syndrome
• Ocular Motility Spared
• Congenital Septal Defects
• Poor Growth
• Deep-Seated Eyes
• Severe Cerebellar Hypoplasia
• Arrhythmic Intermittent Slowing
• Possibly Lymphadenopathy
• Angulated Fibers
• Rare Obstruction of Hepatic Venous Outflow (Ascites)
• Stage 3 - Pseudostationary Period
• Hand Tremor
• Mutation in the CLIC5 Gene
• Some Patients May Have Isolated Myokymia
• Epimetaphyseal Sclerosis
• Hunger and Thirst Disturbances
• 2-3% due to Imprinting Defects
• Caused by Mutation in the Activin A Receptor Type 1 Gene
• Erythrophagocytosis in Late Phase
• Pulmonary Valve Disease
• Posterior Fossa Cysts (WWS)
• Variation in Fiber Size Seen on Muscle Biopsy
• Variable Autoimmune Disorders
• Rarely Rupture of Cysts
• Microcephaly (3-5 SD below the Mean)
• Paroxysmal Activity - Sharp-Waves Occipital Left
• Stage 2 - Rapid Developmental Regression
• Trinucleotide Repeat Expansion in the JPH3 Gene
• Pronounced Anterior Notches
• Generalized Lymphohistiocytic Infiltrates in Late Phase
• 2% due to Paternal Uniparental Disomy of 15q11.2-q13
• Symptoms of Hypothalamic Disturbances
• Tricuspid Valve Disease
• Mutation in the Synaptotagmin 2 Gene
• Autosomal Recessive Inheritance in One Family
• Lupus-like Butterfly Rash
• Fused Hemispheres
• Complex Cardiac Malformations
• Rare Infection of Cysts
• Profound Bilateral Sensorineural Hearing Loss
• Paroxysmal Activity - Spikes
• 70% due to De Novo Maternal Deletion of 15q11.2-q13
• Mutation in the FK506 Binding Protein 10 Gene
• Lymphadenopathy in Late Phase
• Periorbital Sclerosis
• No Vasopressin- or DDAVP-Induced Increase in Urine cAMP
• Hypoplastic Left Ventricle
• EMG Shows Evidence of Reinnervation
• Caused by Mutation in the Beta-3 Gap Junction Protein Gene
• One Patient with Severe Congenital Onset Reported
• Hand Stereotypies
• Muscle Biopsy showing Muscle Fiber Regeneration
• Nasal Nitric Oxide Decreased
• Rare Hemorrhage from Cysts
• Mutation in the Procollagen-Lysine-2-Oxoglutarate-5-Dioxygenase 3 Gene
• Sensitivity to Heat Increased