Sitemap | Symptoma 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
