40201 to 40300 most common queries

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

• Allelic Disorder Is Brugada Syndrome
• Allelic Disorder Is Long QT Syndrome Type 3
• Onset in Utero, Infancy or Early Childhood
• No Structural Defects
• His-Ventricular Conduction Time Increased
• QRS Duration Prolonged
• Atrial Inexcitability
• Hemangioma - Neck and Forehead
• Syndactyly (Toes 4 and 5)
• Bilateral Talipes Equinovarus
• Postaxial Oligodactyly
• Abnormal Karyotype in Single Reported Female Patient
• Lower Eyelid Coloboma
• Hypoplastic or Dysplastic Kidney
• Average Age at Diagnosis 17.8 Years
• Thromboembolic Stroke May Occur
• Isolated Atrial Fibrillation
• Peak Age of Onset in Second Decade
• Mutations in the AGPAT2 Gene
• Leptin Decreased
• Lytic Cystic Lesions in Appendicular Bones
• Retain Some Mechanical Adipose Tissue
• Nearly Complete Absence of Metabolically Active Adipose Tissue
• Insulin-Resistant Diabetes Mellitus at Puberty
• Possibly X-Linked Dominant Inheritance
• Only Women Have Been Reported
• Acanthosis Nigricans in Patients with Diabetes
• Total Cholesterol Increased
• Lipoproteins Increased
• Facial and Neck Adipose Tissue Normal or Increased
• Subcutaneous Truncal Adipose Tissue Increased
• Loss of Gluteal Adipose Tissue
• Adipose Tissue around the Neck Normal or Increased
• Facial Adipose Tissue Normal or Increased
• Ribose-5-Phosphate Isomerase Deficiency in Fibroblasts
• Cerebrospinal Fluid and Urine Ribitol and D-Arabitol Increased
• Mild Sensorimotor Neuropathy
• Mutation in the ZMPSTE24 Gene
• Nose Pinched
• Progressive Clavicular Acroosteolysis
• Resistance to Moderate and Severe Diastolic Hypertension
• Coarse Scalp Hair
• Broad Lateral Eyebrows
• Thick Helices
• Over-Folded Helices
• Mild Epicanthal Folds
• Thick and Elongated Superior Cerebellar Peduncle
• Deep Interpeduncular Fossa
• Lack of Verbal Communication
• Genetic Heterogeneity - See Susceptibility to Asperger Syndrome
• Associated with Fragile X Syndrome
• Associated with Untreated Phenylketonuria
• Associated with Tuberous Sclerosis
• Onset by 3 Years of Age
• Serotonin Increased (25%)
• Language Development Impaired
• Laterally Displaced Fifth Finger (Adults)
• Camptodactyly
• Small, Flat Epiphyses
• Progressive Arthropathy
• Childhood-Onset Arthralgias
• Genu Valgum (present at 1 Year)
• Fixed Elbow Flexion from Birth
• Progressive Intervertebral Space Narrowing
• Progressive Endplate Irregularity
• Severe Progressive Kyphoscoliosis
• Joint Contractures - Onset School Age
• Adult Height 110-130 cm
• Length by Age 6 Months <3rd Percentile
• Hunched up Shoulders (More Prominent in Adults)
• Broad Chest (Neonate)
• Normal Timely Language Development
• Progressive Deafness
• Severe Hearing Loss in Higher Frequencies by the Fifth Decade
• Mild to Moderate Hearing Loss Across most Frequencies
• Paroxysmal Sweating
• Diurnal Fluctuation of Symptoms
• Possibly Drug-Induced Dyskinesias
• Onset in Early Infancy
• Caused by Mutation in the Dopa Decarboxylase Gene
• Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical)
• Plasma, Cerebrospinal Fluid and Urine 3-Methoxytyrosine Increased
• Urine, Plasma and Cerebrospinal Fluid 3-Ortho-Methyldopa Increased
• Cerebrospinal Fluid, Plasma and Urine 5-Hydroxytryptophan Increased
• Increased CSF, Plasma, and Urinary L-Dopa
• Whole Blood Serotonin Decreased
• Cerebrospinal Fluid 5-Hydroxyindoleacetic Acid Decreased
• Cerebrospinal Fluid Homovanillic Acid Decreased
• Activity of Aromatic L Amino Acid Decarboxylase Decreased
• Paroxysmal Oculogyric Crises
• Impaired Voluntary Movement
• Episodic Body Temperature Increase in Some Patients
• Patchy Anhidrosis in Some Patients
• Acral Ulcers
• Autoamputation due to Acral Ulceration and Osteomyelitis
• Painless Fractures due to Injury
• Mild Reduction in Unmyelinated Fibers
• Normal Large Myelinated Fiber - Sensory Modalities
• Distal Temperature Insensitivity in Some Patients
• Distal Pain Insensitivity