23901 to 24000 most common queries

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

• Pustule Formation Along Hair Follicles
• Generalized Pustulosis or Pustular Psoriasis
• Marked Elevation of C-Reactive Protein Level
• Erythrocyte Sedimentation Rate Markedly Elevated
• Multifocal Sterile Osteolysis
• Widening of Anterior Rib Ends
• Caused by Mutation in the Retinol Dehydrogenase 12 Gene
• Preservation of Central Vision Into Later Adulthood
• Legal Blindness in Early Adulthood
• Intraretinal Bone Spicule Pigmentation
• Early Onset Retinal Dystrophy
• Mutation in the CD79B Gene
• Number and Function of T Cells Normal
• Inability to Mount Antibody Response to Antigen
• Block at the Pro-B to Pre-B Stage of Differentiation
• Pre B Cells Decreased or Absent
• Mutation in the Gap Junction Protein Beta 6 Gene
• Vestibular Dysfunction
• Erythrocyte Adenylate Kinase Deficiency
• Vacuolization in Myeloid Cell Lines in the Bone Marrow
• Dysplastic Changes in All Cell Lineages in the Bone Marrow
• Proximal Localization of Thumb
• Poor Secondary Sexual Development
• Caused by Deletion - 1.7 Mb - of 1q41-q42
• Lung Hypoplasia in Those with Diaphragmatic Hernia
• Caused by Mutation in the Steroid 5-Alpha-Reductase 3 Gene
• Variable Visual Loss
• Poor or Absent Speech
• Onset at Age 3-11 Years
• Caused by Mutation in the Fatty Acid 2-Hydroxylase Gene
• Allelic Disorder to GLUT1 Deficiency Syndrome Type 1
• Macrocytic Hemolytic Anemia Appears in Infancy
• Mild Ataxia
• Episodic Flaccidity
• Tongue Hypotrophy
• Bulbar Symptoms
• Chronic and Active Denervation (Muscle Biopsy)
• A Subset of Patients Develop Frontotemporal Dementia
• Extrapyramidal Symptoms May Occur
• Upper and Lower Motor Neuron Disease
• Caused by Mutation in the Calsequestrin 2 Gene
• Relative Resting Bradycardia
• Aneurysm of Right Middle Cerebral Artery, Horizontal Segment
• Capillary Tortuosity in Nail Beds
• Basement Membrane Abnormally Spread in Vascular Smooth Muscle Cells
• Dermal Arteriole Dissociation in Vascular Smooth Muscle Cells
• Basement Membrane Duplications at Dermoepidermal Junction
• Glomerular Basement Membrane Normal
• Microvascular Spaces Dilated
• Fever of Central Origin
• Mutation in the GP9 Gene
• Hirsute Face
• Benign Asymptomatic Defect
• Mutation in the KHK Gene
• Heterozygous Mutations May Cause Symptoms
• Patients Often Nonambulatory by the Mid Twenties
• Mutation in the Coagulation Factor VII Gene
• Mutation in the LAMC2 Gene
• Caused by Mutation in the Beta-3-Laminin Gene
• Mutation in the LAMA3 Gene
• Mutation in the Collagen XVII Alpha 1 Polypeptide Gene
• Variable Clinical Presentation
• Diagnosis Occurs between 23 and 33 Weeks' Gestation
• Glomeruloid Vascular Proliferation in the Retina
• Ischemic Necrotic Lesions
• Endothelial Intracytoplasmic Globular Inclusions
• Glomeruloid Vascular Proliferation in Brain and Spinal Cord
• Severe Hydrocephalus
• Neocortical Atrophy
• Inferior Olivary Nuclei Show Fetal Pattern
• Shrunken Inferior Olivary Nuclei
• Loss of Purkinje Cells
• Cerebellar Cortex Shows Normal Layers
• Cerebellar Folia Decreased
• Psychomotor Development Profoundly Delayed
• Pulmonary Fibrosis (Classic Feature)
• Sparse Scalp Hair (Classic Feature)
• Thickening of the Skin Over the Palms and Soles
• Shortened Telomeres
• Increased Risk of Malignancy
• Small Teeth (Classic Feature)
• Purple Tongue Discoloration (Classic Feature)
• Nasolacrimal Duct Obstruction (Classic Feature)
• Sparse Eyelashes (Classic Feature)
• Microcephaly (Classic Feature)
• Some Patients Acquire Late Ambulation
• Caused by Mutation in the Wolframin Gene (WFS1)
• Death within 6 Years after Onset
• Variable Presentation and Evolution of Symptoms
• Spheroids Contain Neurofilaments
• Axonal Spheroids
• Mutation in the Distal-Less Homeobox 5 Gene
• Asymmetrical Severely Deformed Feet
• Dorsalization of Palms
• Normal Lower Limbs
• Asymmetric Short and Severely Deformed Legs
• Mild Scoliosis
• Severely Short Stature
• Mutation in the Glycerate Kinase Gene
• Hyperglycinemia