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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)