32501 to 32600 most common queries

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

• Scleral Thickening
• Reye-Like Episode
• Clinical Presentation Varies
• Caused by Mutation in the Acyl CoA Dehydrogenase 9 Gene
• Liver Transaminases Elevated
• Plasma Ammonia Elevated
• Cerebellar Stroke
• Allelic to Goldmann-Favre Syndrome
• Aperistalsis
• Minimal Supravalvular Pulmonary Stenosis
• Minimal Pulmonary Valve Stenosis
• Visceral Neuromyopathy
• Variable Terminal Deficiency of Toes
• Absent Middle and Distal Phalanges (Severe Phenotype)
• Absent Distal and Absent or Hypoplastic Middle Phalanges
• Hypoplastic Distal Phalanges (Fingers II-V, Mild Phenotype)
• Variable Terminal Deficiency of Fingers
• Mild Hearing Impairment (13%)
• High Intrafamilial and Interfamilial Variability
• Nonspecific Leukoencephalopathy
• Dysarthria (74%)
• Many Patients Are Asymptomatic
• Urine Free Cortisol Normal
• Cortisol-Binding Globulin Decreased
• Allelic to Naxos Disease
• Normal Hair (No Wooly Hair)
• Normal Skin (No Palmoplantar Keratoderma)
• Prenatal or Perinatal Death
• See also Autosomal Recessive Form
• Vast Majority of Heterozygotes Are Asymptomatic
• Caused by Mutation in the Protein C Gene (PROC)
• High-Molecular Weight Plasma Factor VIII-VWF Multimers Decreased
• Platelet Aggregation with Ristocetin Increased
• Allelic to Autosomal Recessive PXE
• Female-to-Male Ratio 2-4:1
• Onset after Puberty
• Pitted Perioral Acneiform Scars
• Hyperkeratotic, Dark Brown Papules
• Higher Incidence in Females
• Cerebrovascular Ischemic Attacks
• Occlusion of Small Arteries
• Intimal Proliferation of Small Arteries
• Erythematous Irregular Netlike Pattern of Vessels
• Transient Cerebrovascular Ischemic Attacks
• Mutation in the SPG3A Gene
• Adult-Onset Rarely Reported
• Onset Usually in First or Second Decade
• Distal Limb Muscle Weakness and Atrophy
• Mesomelia Becomes More Evident with Age
• Lacy Iliac Wings
• Platyspondyly - Neonate
• Tooth Eruption Delayed - Primary and Secondary
• Severe Painful Episodic Superimposed Myoclonic Spasms
• 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
• Hyperreflexia - Especially of the Lower Limbs
• Lethal Micromelic Dwarfism
• Hemorrhagic Episodes
• Thrombotic Episodes
• Increased Thrombopoietin May Occur
• Homozygotes Have More Severe Disease with Earlier Onset of Thrombosis
• Onset of Symptoms Usually in Adulthood
• Caused by Mutation in the F5 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
• Genetic Heterogeneity - See Familial Temporal Lobe Epilepsy Type 2
• Secondary Generalization
• Deja Vu Feeling
• Reduced Penetrance (75%)
• Mean Age at Onset of Migraine is 42 Years
• Variable Age at Onset of Seizures
• Olfactory or Auditory Hallucinations
• 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