43201 to 43300 most common queries

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

• Mutation in the NLRC4 Gene
• Well Circumscribed Peeling of the Skin on Hands, Feet, Neck
• Icelandic Families
• Digital Webbing
• Lactic Acidemia
• Loss of Neurons Affecting All Cortical Layers
• Iris Malformation or Hypoplasia (WWS)
• Two Main Phenotypes - Metabolic and Neurologic
• Rhythmic Slowing Central Bilaterally
• Susceptibility to Mycobacteria Bacteria Fungi and Viruses Increased
• Dysphasia and Aphasia
• Weight Less than 3rd Percentile
• Skeletal Muscle Biopsy Shows Misplaced Mitochondria
• Lingual Fungiform Papillae Decreased or Absent
• Onset of Skin Changes in Childhood
• Death before Age 40
• Muscle Fibers Normal (HCS)
• Iron and Iron-Binding Capacity Increased
• Poland Syndrome Can Be Associated with Moebius Syndrome
• Peripheral and Cytoplasmic Desmoplakin Staining
• Episodic Pancytopenia
• Activity of Pyruvate Decarboxylase Decreased
• Coloboma (WWS)
• Paroxysmal Activity - Sharp-Waves Central Bilaterally
• Lethal Respiratory Insufficiency at Birth
• Short Bifid Sternum
• Distal Muscle Weakness Affecting the Lower Limbs
• Free Fatty Acids Increased
• Pupillary Contraction in Response to Methacholine
• Caused by Mutation in the LEM Domain-Containing-Protein-3 Gene
• Onset 3rd to 4th Decade of Life
• Autosomal Dominant Inheritance Reported
• Red Ragged Fibers (2p21del)
• Long-Chain Fatty Acids Increased
• Ichthyosis of Scalp and Flexural Areas
• Mutation in the SNX10 Gene
• IL1B and Soluble IL2R Increased
• Hyperplastic Primary Vitreous (WWS)
• Activity of the Pyruvate Dehydrogenase Complex Decreased
• Severe Multiple Joint Contractures
• Slowing - Theta Waves Unilaterally
• Mutations in the Cystatin C Gene
• Distal Muscle Atrophy Affecting the Lower Limbs
• Vomiting Crises
• Bilateral Chorioretinopathy
• Collagen-Rich Connective Tissue Nevi
• Fine Motor Coordination Problems
• Three Times More Common in Males
• Variable Age at Onset: 1.5-27 Years
• Dihydroxyacetone Phosphate Acyltransferase Activity Decreased
• Increased IL-18
• Almond-Shaped Eyes (2p21del)
• Anterior Chamber Malformation
• Fully Ossified Ethmoid Air Cells
• Incresased Urinary Pyruvate
• Small or Borderline to Adequate Size for Gestational Age
• Paroxysmal Activity - Sharp-Waves Frontal Right
• Cerebrospinal Fluid Cystatin C Decreased
• Elastin-Rich Connective Tissue Nevi
• Two Japanese Families Have Been Reported
• Occurs on Right Side in 75% of Cases
• Few Neurons in Dorsal Root Ganglia
• Autoimmune Neutropenia
• Stippled Epiphyses (Patellar and Acetabular Regions)
• Impaired Balance
• Possible Genetic Heterogeneity
• Large Ears (2p21del)
• Retinal Malformations
• Paroxysmal Activity - Sharp-Waves Parietal Right
• Severe Muscle Wasting and Atrophy, Primarily in the Legs
• Narrowed Medullary Space due to Encroachment of Cortical Bone
• NK-Cell Dysfunction
• Blood Alanine Increased
• Mutation in the Transthyretin Gene
• Mutation in the Type 4 Collagen Alpha 2 Gene
• All Features Are Unilateral
• Neurons in Spinal Sympathetic Ganglia Decreased
• Numbers of B Cells Normal or Reduced
• Pyloric Hypertrophy
• Mutation in the Collagen I Alpha 2 Polypeptide Gene
• Increased Appetite
• Paroxysmal Activity - Sharp-Waves Occipital Right
• Trauma May Accelerate Symptoms
• NK Cells Decreased
• Primarily Diagnosed in Females
• Dolichocephaly (HCS)
• Retinal Detachment (WWS)
• Dense Bones
• Cerebrospinal Fluid Pyruvic Acid Increased
• Amyloid Deposition in the Vitreous Humor
• Structural Brain Anomalies
• Hypoplasia of Supraspinatus Muscle
• Large Myelinated Fibers Decreased
• Absent Liver Peroxisomes
• Auditory Hallucination
• Motor Impairment More Significant than Sensory Impairment
• Paroxysmal Activity - Spikes Parietal Left
• Mutation in the EFNB1 Gene
• Postdates Delivery
• Vitreoretinal Dysgenesis