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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