Sitemap | Symptoma 28501 to 28600 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. 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) Thickening of the Skin Over the Palms and Soles
