42301 to 42400 most common queries

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

• Poor Motor Development
• Nonprogressive Cerebellar Ataxia
• Rhythmic Slowing Occipital Bilaterally
• Usually Fatal in Infancy
• Prominent Forehead (Homozygous)
• Skeletal Muscle Shows Decreased Sarcoglycan Proteins
• Lack of Psychomotor Development
• Tall, Broad Forehead
• Vestibular Anomalies
• Psychiatric Abnormalities
• Lung Function Testing Abnormal
• Onset Usually by Age 2 Years
• Age of Onset within the First Years of Life
• Prenatal-Onset Mild to Moderate Growth Retardation
• Dysplasia of Middle and/or Distal Phalanges
• Ivory Epiphyses (phalanges)
• Painful Crises Precipitated by Exercise Fatigue or Stress
• Two Patients with a WWS Phenotype Have Been Reported
• Skeletal Muscle Shows Dystrophic Changes
• Seizure Disorder (Homozygote)
• Severe Muscular Hypotonia
• Continuous Rhythmic Slowing
• Temporo-Occipital Polymicrogyria
• Mutation in the Protein S Gene
• Mephenytoin Hydroxylation Defect
• Mutation in the KCNE1 Gene
• Mild to Moderate Neck Muscle Weakness
• Relatively Large Eyes
• Non-Alcoholic Cirrhosis
• Brachymelic Dwarfism (Upper Limbs Greater than Lower Limbs)
• Mutation in the Solute Carrier Family 16 Member 1 Gene
• Onset Usually in Childhood or Adolescence
• Mesoaxial Camptodactyly
• Proximal Muscle Weakness (Limb Girdle)
• Chorioectopia
• No Cardiac Involvement
• Developmental Delay (in Homozygotes)
• Arrhythmic Slowing Frontal Right
• Secondary Intracerebral Hemorrhage
• Cysts in Patella and Ends of Long Bones
• Caused by Mutation in the Matrix Metalloproteinase 20 Gene
• Mild to Moderate Facial Muscle Weakness
• Mutation in the Cytochrome P450 Subfamily IIc Gene
• Absence of Earlobe
• Alpha-1 Antitrypsin Decreased
• Cyclic Vomiting
• Thick Straight Hair
• Broad Metacarpal Bones
• Several Forms of Autosomal Recessive Spastic Paraplegia
• Mild Obstructive Lung Disease
• Decreased Sweating due to Autonomic Dysfunction
• Complete or Partial Absence of the Corpus Callosum
• Arrhythmic Slowing Temporal Right
• No Muscle Fiber Necrosis
• Free Protein S and Total Protein S Decreased or Absent
• Bone Cysts Filled with Necrotic Fatty Material
• Anterior Open Bite
• Majority of Cases Are due to De Novo Mutation
• Mild to Moderate Proximal Limb Muscle Weakness
• Mild to Moderate Intellectual Disability - in Homozygotes
• Low-Set, Malformed Ears
• Short Distal Digit
• Broad Carpal Bones
• Learning Disabilities
• Caused by Mutation in the Spatacsin Gene
• Brainstem Concavity
• Vacuolated Muscle Fibers Show Reduplication of the Basement Membrane
• Abnormal Bowel Regulation due to Autonomic Dysfunction
• Retinal Vasculogenesis Impaired
• Arrhythmic Slowing Temporal Bilaterally
• Neuropathologic Examination Shows Severe Demyelination
• Globotriaosylceramide Increased
• Thin Enamel Layer
• Corpus, Tail and Uncinate Process Absent
• Distinct from Pseudopili Annulati
• Death May Occur in the First Decade
• Average Birth Weight 1540 g
• Symphalangism of the DIP Joint
• Lack of Motor Development
• Loss of Myelinated Fibers (Nerve Biopsy)
• Sparse Hair
• Bone Marrow Contains Lipid-Laden Macrophages
• MRI Shows Leukoencephalopathy
• Perisarcolemmal Calcium Deposition Increased
• Arrhythmic Slowing Parietal Bilaterally
• Long, Bowed Fibulae
• Abnormal Bladder Regulation due to Autonomic Dysfunction
• Mutation in the RAD51 Gene
• Yellowish Brown Enamel
• Pancreatic Head Enlarged
• Fragility of Hair Usually Not Increased
• Immunodeficiency Is Progressive
• Arachnoidal Cysts
• Mutation in the NADH Dehydrogenase 1 Alpha Subcomplex 10 Gene
• Spirochete
• Impotence Due to Autonomic Dysfunction
• Myotonic Discharges in the Absence of Clinical Myotonia (EMG)
• Peripheral Motor and Distal Sensory Neuropathy
• Progressive Basilar Impression
• Arrhythmic Slowing Occipital Left