23101 to 23200 most common queries

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

• Severely Reduced Response to Candida and Tetanus Toxoid Antigens
• Response to Mitogens Severely Decreased
• CD3 T Lymphocyte Counts Reduced
• CD4 T-Lymphocyte Counts Reduced
• Mutation in the Ferritin Heavy Chain 1 Gene
• No Abnormalities
• Total Iron-Binding Capacity Elevated
• Iron Deposition in Macrophages
• Iron Deposition in Some Kupffer Cells
• Heavy Iron Deposition in Most Hepatocytes
• Mutation in the HERC2 Gene
• Adaptive Hand Use Delayed
• Lower Motor Neuron Degeneration
• Upper Motor Neuron Degeneration
• Transferrin Profiles Normal
• No Adrenal Insufficiency
• Possibly Death in Early Childhood in Homozygotes
• Heterozygous Carriers Exhibit Palmoplantar Hyperkeratosis
• Uneven Distribution of Desmosomes in Upper Epidermis
• Subcorneal and Intragranular Separation
• Widespread Acantholysis within Spinous and Granular Layers
• Alternating Hypogranulosis and Hypergranulosis
• Alternating Parakeratosis and Orthokeratosis
• Hyperkeratosis of Weight-Bearing Areas of Soles
• Erythroderma Generalized Congenital
• Severe Hypernatremia in Neonatal Period
• Recurrent Skin and Respiratory Infections
• IgE Levels Markedly Elevated
• Slight Corkscrew Appearance of Branches of Hepatic Artery (MRI)
• Heterogeneous Arterial Phase on MRI
• Cutaneous Telangiectases
• Mutation in the SPAG1 Gene
• Ciliary Motility Decreased
• Mutation in the CCDC65 Gene
• Dyskinetic Ciliary Motility
• Microtubule Disorganization in Some Cilia
• Mutation in the WD Repeat Containing Protein 60 Gene
• Hypoplastic Trabecular Bone
• Conical Epiphyses
• Prenatal Ultrasound Shows Short Long Bones
• Prominent Bile Duct Plates
• Hepatomegaly with Ductal Plate Malformation
• Handlebar Clavicles
• Focal Cystic Changes
• Mild Dilation of Renal Tubules
• Mutation in the CCCTC-Binding Factor Gene
• Mild Aortic Coarctation
• Small Teeth (Incisors Spared)
• Prominent Incisors
• Caused by Mutation in the Ankyrin 3 Gene (ANK3 600465-0001)
• Onset of Visual Loss in Childhood
• Mutation in the UCHL1 Gene
• Impaired Distal Sensation to Vibration and Position
• Myotonia
• Inability to Stand without Assistance
• Mutation in the Tripartite Motif Containing Protein 2 Gene
• Slight Build
• Atrophy of the Small Muscles in the Hands and Feet
• Swollen Myelinated Fibers
• Accumulation of Neurofilaments within Axons
• Non-Specific Axonal Degeneration (Sural Nerve Biopsy)
• Sensory and Motor Nerve Amplitudes Decreased
• Inability to Walk on Heels
• Muscle Weakness and Atrophy - Upper and Lower Limbs
• Mean Age at Onset: 23.9 Years
• Orobuccal Dyskinesia
• Possibly Calcification in Cerebellum, Thalamus, White Matter
• Mutation in the Dyslexia Susceptibility 1 Candidate 1 Gene
• Recurrent Respiratory Infections due to Defective Cilia Function
• Inner and Outer Dynein Arm Defects in Cilia
• Mutation in the RSPH1 Gene
• Recurrent Respiratory Infections due to Defective Ciliary Clearance
• Some Cilia Show Central Complex and Radial Spoke Defects
• Some Cilia Show Abnormal Beating Patterns or Immotility
• Onset of Seizures in First Months or Years of Life
• Laterally Placed Eyebrows
• Persistent Cavum Septi Pellucidi
• MRI Shows Short, Thick Corpus Callosum
• Slowed Background Activity
• Abnormal Spikes
• Second Degree Heart Block
• Verbal Outbursts
• Mild Athetosis
• Aldosterone/Renin Ratio Increased
• Aldosterone Elevated
• Multifocal Spikes
• Fragmentation of the Mitochondrial Network
• Depletion of mtDNA (Skeletal Muscle, Fibroblasts)
• White Matter Lesions in the Basal Ganglia
• Brain Stem White Matter Lesions
• Poor Antibody Response
• Normal Numbers of Lymphocytes
• Fine Punctate Lens Opacities
• Episodic Decompensation Is Usually Triggered by Illness
• Caused by Mutation in the Cytochrome-C1 Gene
• Episodically Abnormal Liver Enzymes
• Episodic Hyperammonemia
• Episodic Acute Liver Failure
• Coma during Episodes
• Encephalopathy during Episodes