27501 to 27600 most common queries

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

• Release of Platelet Adenosine Diphosphate Impaired
• Mild Moderate Bleeding Tendencies
• Mild-Moderate Prolonged Bleeding Time
• Many Cases Are Asymptomatic
• Limb Muscle Atrophy
• Segmental Sensory Loss Especially of Pain and Temperature
• Touch, Vibration, and Position Sense Possibly Affected
• Burning Pain in the Limbs
• Cranial Nerve Anomalies
• Lethal Micromelic Dwarfism
• Hemorrhagic Episodes
• Increased Thrombopoietin May Occur
• Homozygotes Have More Severe Disease with Earlier Onset of Thrombosis
• Onset of Symptoms Usually in Adulthood
• Mutation in the Coagulation Factor V Gene
• Fetal Loss Increased
• Risk for Preeclampsia Increased
• Complicated Strabismus
• Tortuous Retinal Vasculature
• Allelic to Trichorhinophalangeal Syndrome Type 3 (TRPS3 190351)
• Allelic to TRP1
• Good Response to Steroid Treatment
• Muscle Biopsy Shows Dystrophic Features
• No Central Nervous System Abnormalities
• Abnormal Hippocampus
• Severe to Profound Mental Retardation
• Deja Vu Feeling
• Reduced Penetrance (75%)
• Mean Age at Onset of Migraine is 42 Years
• Variable Age at Onset of Seizures
• Migraine with Aura - Usually Visual
• Visual Symptoms
• Absence Seizures Usually Remit by Puberty
• Absence Seizures Show Onset between 3.5 and 4 Years
• Febrile Seizures Remit by Age 5 or 6
• Febrile Seizures Show Onset between 6 Months and 3 Years
• 3 Hz Spikes
• Childhood Absence Seizures
• Average Age at Onset between 40 and 50 Years
• Bulbar Spasticity
• Episodes Last 1 to 2 Days
• Mutation in the NLR Family Pyrin Domain Containing Protein 3 Gene
• Rash Possibly Pruritic
• Episodic Maculopapular Rash
• Episodic Erythrocyte Sedimentation Rate Increase
• IL6 Increased - Episodic
• Episodic Polymorphonuclear Leukocytosis
• Myalgia Episodic
• Progressive Late Onset Sensorineural Deafness
• Caused by Mutation in the Bestrophin 1 Gene (BEST1 607854-0020)
• Reduced Electroretinogram Becoming Extinguished in Older Patients
• Chronic Angle-Closure Glaucoma in Older Patients
• Nanophthalmos if No Staphyloma
• Posterior Staphyloma in Most Eyes
• Fundus Dystrophy
• Vitreous Fibrillar Condensation
• Punctate White Opacities in the Retina
• Onset of Night Blindness during Adolescence
• Sensorineural Hearing Loss Associated with ELSTs
• Endolymphatic Sac Tumor
• Allelic to Neurofibromatosis Type 1
• Allelic to Ellis-Van-Creveld Syndrome
• Autosomal Recessive Form Has Also Been Described
• See Also DA2B Which Is an Allelic Disorder
• Interstitial Connective Tissue Increased
• Small Type 1 Fibers
• Skeletal Muscle Biopsy Shows Fiber Size Variability
• Highly Variable Phenotype - Ranging from Asymptomatic to Severe
• Onset: Birth to Early Childhood
• Butyryl Carnitine Increased
• Short-Chain Acyl-CoA Dehydrogenase Activity Decreased
• Chronic Failure to Thrive
• Pigment Does not Develop with Age
• Complete Absence of Melanin Synthesis
• No Ability to Tan
• Milky White Skin
• Asymmetric Visual Evoked Potentials
• Absent Stereopsis due to Anomalous Decussation at the Optic Chiasm
• High Refractive Errors
• Visible Choroidal Vessels
• Retinal Pigment Absent
• Blue Gray Irides (Adult)
• Pink Irides
• Absent Iris Pigment
• Mutation in the ALMS1 Gene
• Discolored Enamel
• Deformities of the Calyceal System
• Narrowing of the Ureteropelvic Junctions
• Anterior Openbite Malocclusion
• Vertical Dysgnathia
• Retrognathic Mandibular Position
• Mutation in the Tumor Associated Calcium Signal Transducer 2 Gene
• Raised Yellowish Gray Gelatinous Masses
• Foreign Body Sensation (Early Symptom)
• Photophobia (Early Symptom)
• Lacrimation - Early Symptom
• Open Spina Bifida (Myelomeningocele)
• Ventricular Anomalies
• Polygyria
• Small Thin Cerebellum