21701 to 21800 most common queries

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

• Brain Iron Accumulation
• Frontotemporal Dementia of Variable Severity
• Frontotemporal Lobar Atrophy
• No Vascular Tortuosity
• Large Wide Feet
• Abnormal Helices Antihelices and Lobules
• Narrow Ears
• Treatable by Bone Marrow Transplantation
• Susceptibility to Infection with Human Herpesvirus
• Caused by Mutation in the Adenylate Kinase-1 Gene
• Lesions Increase in Size and Number with Age
• Linear Porokeratosis
• Primary Dentition Delayed
• Thin Nose
• Severity of Skin Symptoms Varies within Families
• Electron-Lucent Vacuoles Possibly Containing Smaller Vesicles
• Vesicular Complexes in the Stratum corneum
• Lamellae in Stratum Corneum with Few or Minimal Lipid Droplets
• Reticulate Ichthyosis
• Larger, Brownish Scaling on Neck, Buttocks, and Legs
• Fine, Whitish Scaling on Face and Trunk
• Ichthyosis Generalized
• Osteoclasts and Osteoblasts Decreased
• Bone Biopsy Shows Low Trabecular Bone Volume
• Seizures Are Usually Intractable
• Mutation in the STXBP1 Gene
• Death Can Occur in Infancy
• Poor Visual Contact
• Intestinal Dysmotility
• Abnormal Mitochondrial Proliferation
• Severe mtDNA Depletion
• Caused by Mutation in the TAR DNA-Binding Protein Gene
• Seizures and Cognitive Involvement Are Variable Findings
• Onset in Early to Late Childhood
• Talus Valgus
• Muscle Biopsy Shows Mitochondrial Aggregates
• Activity of Respiratory Complex I and III Decreased
• Respiratory Complex II + III Activity Decreased
• Cilia May Be Static with Slow Activity
• Mutation in the Aldolase A Fructose Bisphosphatase Gene
• Normal Red Cell Osmotic Fragility
• Long Halluces
• Proximal Implantation of Thumb
• Ultrastructural Neuronal Ceroid Lipofuscinosis in Only One Family
• Rectilinear Profiles in Cells (Ultrastructural Analysis)
• Granular Osmiophilic Cytoplasmic Deposits in Cells
• Mild Optic Atrophy
• Death Often in First Months of Life
• Profound Psychomotor Retardation in Those Who Survive
• Onset at Birth or in First Days of Life
• Dysmorphic Features Described in 1 Patient
• Reduced Activity of Mitochondrial Respiratory Chains
• Edematous Hands and Feet
• Mutation in the IRX5 Gene
• Small Patent Ductus Arteriosus
• Ectopic Finger Creases
• Worn-Out Teeth
• Thin or Hypoplastic Enamel
• Thin Upper Vermilion Border
• Pointed Nasal Tip
• Absence or Dysfunction of Nasolacrimal Structures
• Progressive Severe Myopia
• Severe Hypertelorism
• Mild Micrognathia
• Bulging Midface
• Extra Frontal Hair Whorl
• Absent Gonad Activity
• Ectodermal Symptoms
• Partial Deficiency of Factor XIII
• Partial Deficiency of Factor XI
• Anterior Segment Mesenchymal Dysgenesis
• Congenital, Progressive, Posterior Polar Cataract
• Cataracts Usually Congenital
• Mutation in the Mitochondrial Ts Translation Elongation Factor Gene
• Abnormal Signals in the Thalami Seen on MRI
• Left Ventricular Involvement
• Woolly Hair
• Mild Palmoplantar Keratoderma
• Mutation in the KAT8 Regulatory NSL Complex Subunit 1 Gene
• Inability to Recognize Someone Familiar by the Face Alone
• Saccadic Ocular Pursuit
• Lower Limb Muscle Weakness
• Lower Limb Muscle Atrophy
• Mild Distal Peripheral Sensory Loss
• Mild Cerebellar Signs
• Onset in the First or Second Decades of Life
• Central Scotomata on Photopic and Dark Adapted Perimetry Testing
• Reduced and Delayed Cone Responses on Electroretinography
• Marked Macular Dysfunction on Electroretinography
• Progressively Reduced Red-Green Color Vision
• Mild Horizontal Nystagmus
• Progressive Reduced Central Vision
• Moderate to High Myopia
• Caused by Mutation in the DNA Polymerase Gamma 2 Gene
• Caused by Mutation in the Decorin Gene
• No Corneal Erosions
• Progressive Painless Visual Loss
• Congenital Progressive Corneal Stromal Opacification
• Irregular Folding of the Cortex
• Asymmetric or Symmetric Polymicrogyria