28501 to 28600 most common queries

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

• Gross and Microscopic Hematuria
• Late Onset Slowly Progressing Form of Retinitis Pigmentosa
• Mutation in the Kelch-Like Protein 7 Gene
• Sparing of Far Periphery
• Bilaterally Concentric Constriction of Visual Fields
• Strong Retention of Foveal Function
• Waxy Optic Pallor
• Loss of Peripheral Retinal Tissue
• Retinitis Pigmentosa - Late Onset Form
• Onychomadesis - Shedding of the Nail
• Psoriatic Nail Changes
• Pustule Formation Along Hair Follicles
• Neutrophil Infiltration of Dermis and Epidermis
• Generalized Pustulosis or Pustular Psoriasis
• Marked Elevation of C-Reactive Protein Level
• Erythrocyte Sedimentation Rate Markedly Elevated
• Multifocal Sterile Osteolysis
• Periosteal Cloaking
• Widening of Anterior Rib Ends
• Cerebral Vasculitis or Vasculopathy
• 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
• Delayed or Incomplete Puberty
• Poor Secondary Sexual Development
• Midline Defects
• 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
• Iron Deposition in the Globus Pallidus
• Dysmyelinating Leukodystrophy
• Periventricular Hemorrhagic Infarction
• Allelic Disorder to GLUT1 Deficiency Syndrome Type 1
• Macrocytic Hemolytic Anemia Appears in Infancy
• Generalized Epileptiform Discharges
• 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
• Mild Renal Failure
• 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
• Caused by Mutation in the F7 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
• Cortical Thinning
• Endothelial Intracytoplasmic Globular Inclusions
• Glomeruloid Vascular Proliferation in Brain and Spinal Cord
• Severe Hydrocephalus
• Hypertonia at Birth
• 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)