46701 to 46800 most common queries

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

• Extremely Low Creatine Excretion
• Skin Papule
• Acute Encephalopathic Episodes May Occur
• Hypoplastic Paranasal Sinuses
• Ventricular Arrhythmia
• Brown Accumulation of Gaucher Cells at Corneoscleral Limbus
• Proximally Placed Thumbs
• Urine 2-Hydroxybutyrate Increased
• Activities of Multiple Sulfatases Decreased
• Hypertonia and Rigidity during Seizures
• Bone Deformities due to Untreated Fractures
• Eyelashes May Be Spared
• Endoscopy Abnormal
• Round Face Early in Life
• Speech Development Absent or Limited
• Posterior Cervical Adenopathy
• Mutation in the BBS4 Gene
• Oligodontia (Reduced Number of Molars and Premolars)
• C26 Bile Acid Intermediates Increased
• Left Ventricular Non-Compaction
• See Also Gaucher Disease Type 3 Which Is Much Less Severe
• Broad Index Fingers
• Serum and Urinary Lactate Increased
• Undertubulation (Lack of Diaphyseal Modeling)
• Absence of Long Bones
• Moderately Short Stature
• Alopecia Appears within 12 Months of Age and Is Permanent
• Intermittent Severe Hypoglycemia
• Mutation in the SLC12A1 Gene
• Phytanic Acid Normal or Increased
• Corneal Sensitivity Impairment - Hypesthesia
• Developmental Delay or Regression
• Caused by Mutation in the BBS2 Gene (BBS2)
• Left Ventricular Dilation
• Throbbing Headache
• Bone Marrow with Tumor Cells
• Spongiform Degeneration
• Crumpled Long Bones
• See also More Severe Perinatal Lethal Variant
• Hypoplastic or Absent Epiphyses
• Onset of Progressive Spastic Paraplegia in Childhood
• Also Called 'Heterozygous OSMED' and 'Autosomal Dominant OSMED'
• Cysts Are Similar to Those Seen in 'Atrichia with Papular Lesions'
• Partially Reduced Visually Acuity
• No Liver Disease
• Thickening of the Lower Alveolar Ridge
• Low to Normal Blood Pressure
• Abnormal Bone Marrow Karyotype
• Caused by Mutation in the BBS1 Gene (BBS1)
• Protoporphyrin Increased
• Neurologic Regression
• About 50% of Mutation Carriers Are Asymptomatic
• Delayed Ossification of Epiphyses
• Rubber Plantation Worker
• Five Patients Have Been Reported as of April 2011
• Death Often by Age 2 Years
• See Also Congenital Stiff Person Syndrome
• Osteopenic Long Bones
• Follicular Remnants in Cysts
• Onset: Childhood to Adult
• Mutation in the Regulatory Factor X, Ankyrin Repeat Containing Gene
• Intrafamilial Variation
• White Matter Hyperintensities in Various Brain Regions
• Occasionally Hypomagnesemia
• Hypoglossia - Absence of the Anterior Two Thirds of the Tongue
• Responsiveness Decreasing
• Poor Vibratory Sense
• Thoracic and Lumbar Scoliosis
• Good Response to GABA-Enhancing Medications
• Onset at 3-6 Months of Age
• May Be Benign Condition
• Mutation in the Leucine and Proline Enriched Proteoglycan 1 Gene
• Audiogram May Be Ascending
• Convulsions
• Cutaneous 0.5 to 1.0 cm Bluish and Flesh-Colored Papules
• Mutation in the RFX5 Gene
• Abnormal Dark Adaptation, Midperipheral Scotoma
• Mutation in the SCN8A Gene
• Hypermobility of all Joints
• Mutation in the TNNI2 Gene
• Malnutrition due to Poor Feeding
• Vitamin B12 Increased
• Subluxation or Fusion of the Cervical Vertebrae
• Abnormal EEG Activity during Sleep
• Good Response to Immunotherapy (IVIG or Plasmapheresis)
• Acid Beta Galactosidase Protein and Activity Decreased
• Mutation in the Alpha Aminoadipic Semialdehyde Synthase Gene
• Mutation in the SLC26A2 Gene
• Overmodification of Type 1 Collagen
• Free T4 Increased
• Resistance to 1,25-Dihydroxyvitamin D3
• Mutation in the MHC2TA Gene
• Severe Vision Loss by the 8th Decade
• Hypoplastic or Absent Interphalangeal Creases
• Chronic Sialorrhea
• Attention Deficit - Hyperactivity Disorder
• Upper Limbs Affected
• Malformations of the Auditory Ossicles
• Gastrointestinal Carcinoid Tumor
• Acquired Sporadic Disorder