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39601 to 39700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Approximately 0.7 dB Hearing Loss Per Year at All Frequencies
Progressive Hearing Impairment
Non-Syndromic Hereditary Hearing Impairment
Allelic Disorder to Paramyotonia Congenita
Cold Sensitivity Has Been Reported
Muscle Weakness Usually Does Not Occur
Mutation in the Centromeric Protein J Gene
Caused by Mutation in the CD36 Antigen Gene (CD36)
Prolonged Bleeding Time - 15 to > 30 Minutes
Median Platelet Volume 15.5 fl
Platelet Count Low to Normal (45*10^9/l)
No Neutrophilic Inclusions
Variable Bleeding Tendencies
Posterior Parietal Hair Whorls
Elbow Dimples
Absence of Several Ribs
Genetic Heterogeneity - See Myofibrillar Myopathy Type 3
Adult Onset (3rd to 4th Decade)
Juvenile Onset
Creatine Kinase May Be Normal or Elevated
Respiratory Muscles May Be Involved
Distal Muscle Weakness Occurs Later
Pelvic Girdle Muscle Weakness (Earlier)
Longer Disease Duration than Creutzfeldt Jakob Disease
Average Disease Duration of 7 Years
Rapidly Progressive but Slower than Creutzfeldt Jakob Disease
Mutation in the PRNP Gene
Rapid Weight Loss Late in the Disease
Neurofibrillary Tangles May be Present
Amyloid-Like Plaques Not Immunoreactive to APP
Onset Ages 2 to 14 Years
Male-to-Female Ratio 4:1
Motor and Vocal Tics
Subclinical Defect in Pancreatic Exocrine Function
Fractional Excretion of Uric Acid Decreased
Abnormal Renal Calyces
Glomerular Cysts
Glomerular Tufts
Enlarged Glomeruli
Numbers of Glomeruli Decreased
Abnormal Nephrogenesis
Vagina Aplasia
GMS is Goniodysgenesis, Mental Deficiency and Short Stature
Bone Marrow Aspirate Shows Normal Cellularity and Reticular Fibrosis
Gray Polymorphonuclear Neutrophils
Gray to Gray Blue Platelet on Wright-Giemsa Stain
Large Agranular Platelets
Platelet Derived Growth Factor Decreased
Thrombospondin Decreased
Beta-Thromboglobulin Decreased
Von Willebrand Factor Decreased
Platelet Aggregation Response to Collagen and Thrombin Decreased
Normal Platelet Aggregation Response to Arachidonic Acid
Prolonged Bleeding Time (10 to >30 Minutes)
Median Mean Platelet Volume 13 fl
Large Flattened Vertebrae with Large Pedicles
Autistic-Like Condition
Mutation in the Homeobox A13 Gene
Fused Cuneiforms
Absent Hallux
Carpal Bone Ossification Delayed
Longitudinal Vaginal Septum
Transient Metabolic Acidosis that Resolves in Infancy
4-Hydroxycyclohexylacetic Aciduria (Adults)
4-Hydroxyphenylactic Aciduria
Transient Tyrosinemia (Resolves in Infancy)
Idionodal Escape Rhythm
Left Sided Involvement Occurs More Frequently
Short Mandibular Ramus
Basilar Kyphosis
Delayed Teeth Eruption on Ipsilateral Side
Lip Atrophy
Loss of Periorbital Fat
Misshapen Small Ear
Unilateral Facial Wasting
Marked Clinical Variability within Families
Triggered by Minor Head Trauma
Pulsatile Headache Lasts Hours to Days
Symptoms Usually Last 30-60 Minutes
Onset 5-30 Years
Migraine with Aura
Impaired Long-Term Verbal Memory
Contiguous Gene Syndrome due to Deletion of HBA1 and HBA2
Hb H Inclusions in Erythrocytes
Subtelomeric Deletion of 16p
Wide Flat Broad Forehead
Abnormally Placed Nipples
Shallow Acetabulum
Pronounced Coxa Plana
Irregular Greater Trochanteric Epiphyses
Coxa Plana
Irregular Proximal Epiphyseal Line of Femur
Delayed Appearance - Secondary Ossification Center - Femoral Head
Widened Proximal Femoral Metaphyses
Chronic Relapsing Condition
Apocrine Glands Are Secondarily Involved
Necrotic Tissue Encapsulated by Epithelial Strands
Foreign Material Accumulated in the Dermis
Segmental Rupture of the Follicular Epithelium
Dermal Contractures