26001 to 26100 most common queries

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

• 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
• Thumb Deviation
• 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
• Parotid Gland Dysfunction
• Bulging Midface
• Extra Frontal Hair Whorl
• Absent Gonad Activity
• Downturned Upper Lip
• High Nasal Bridge
• Ectodermal Symptoms
• 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
• Concentric Hypertrophic Cardiomyopathy
• 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
• Leg Weakness
• Lower Limb Muscle Atrophy
• Mild Distal Peripheral Sensory Loss
• Mild Cerebellar Signs
• Nyctalopia (Late Symptom)
• 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
• Mild Macular Atrophy
• Progressively Reduced Red-Green Color Vision
• Mild Horizontal Nystagmus
• Variable Astigmatism
• 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
• Oromotor Dyspraxia
• Irregular Folding of the Cortex
• Asymmetric or Symmetric Polymicrogyria
• Variable Malformations of Cortex
• Normal Scotopic Responses on Rod Electroretinogram
• Stationary Cone Degeneration
• Central Scotoma on Goldmann Visual Field
• Central Macular Atrophy
• Macular Granularity
• Founder Effect in Irish Travelers
• Glucocorticoid Deficiency Occurs in Mid-Childhood
• Growth Retardation Onset in Utero
• Mutation in the MCM4 Gene
• Cell Studies Show Increased DNA Breakage
• Susceptibility to Cancer Increased
• Mildly Delayed Cognitive Development
• Corticosteroid Deficiency
• Mutation in the CIB2 Gene
• Mutation in the DDHD1 Gene
• Axonal Neuropathy
• MRI Shows No Structural Brain Abnormalities
• Left Ventricular Ejection Fraction Decreased
• Subsarcolemmal Nemaline Bodies on Gomori Trichrome Staining
• Type 1 Fiber Atrophy Seen on Muscle Biopsy
• Type 1 Fiber Predominance Seen on Muscle Biopsy
• Increased Variability of Fiber Size Seen on Muscle Biopsy
• At Birth There Is Generalized Red Scaly Skin
• Variable Penetrance of These Features