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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