25001 to 25100 most common queries

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

• Pseudoarthrosis of the Clavicle
• Group A Patients Die in the First Years of Life
• Subcortical Leukodystrophy
• Mutation in the LHX4 Gene
• Mutation in the Beta-1,3-Glucosyltransferase Gene
• Successful Treatment with Oral Isotretinoin
• S Epidermidis Only Microorganism Isolated
• Small Areas of Alopecia
• Scalp Sinus Formation
• Suppurative Scalp Nodules
• C-Peptide and Glucagon Levels Measurable
• Genetic Heterogeneity
• Mutation in the Collagen 1 Alpha 1 Polypeptide Gene
• Mutation in the C20ORF7 Gene
• See for an Autosomal Dominant Form
• Early Exhaustion on Exertion
• Low Physical Performance
• Chronic Course with Exacerbations and Remissions
• Mutation in the ISCU Gene
• Low Maximal Oxygen Uptake on Exercise Testing
• Muscle Mitochondrial Aconitase Decreased
• Muscle Succinate Dehydrogenase Decreased
• Abnormal Mitochondria in Skeletal Muscle Biopsy
• Muscles Become Hard and Tender during Exercise
• Premature Exertional Muscle Weakness
• EM Shows Degenerated Mitochondria
• Excessive Neutral Fat and Free Fatty Acids in Type 1 Fibers
• Histochemically Normal Type 2 Muscle Fibers
• Interfibrillar and Subsarcolemmal Vacuoles
• Neck and Proximal Limb Muscle Myopathy
• Renal Failure Not in All Patients
• Death Occurs 10-20 Years after Onset
• Smell Sense Defect
• Odor Blindness
• Discrete Anosmia
• Mutation in the Collagen VI Alpha-3 Polypeptide Gene
• Mutation in the CHRNG Gene
• Hypoplastic Heart
• Microbrachydactyly
• Congenital Bone Fusions
• Generalized Amyoplasia
• Caused by Mutation in the Biotinidase Gene
• Caused by Mutations in the Galactosamine-6-Sulfatase Gene
• Mutation in the MTTS2 Gene
• Mutation in the MMTN Gene
• Mutation in the Methylmalonyl CoA Mutase Gene
• Ischemic Stroke in the Basal Ganglia
• Mutation in the AUH Gene
• Type 2 Is Progressive and Leads to Shortened Lifespan
• Myelination Defects
• Spasticity Type 2
• Opisthotonos (Type II)
• Mutation in the SIL1 Gene
• Skeletal Deformities due to Severe Myopathy and Hypotonia
• Dense Membranous Structure Surrounding Nuclei on Electron Microscopy
• Necrotic and Regenerating Fibers
• Autophagic, Rimmed Vacuoles
• Mutation in the MLYCD Gene
• Branchial Dysplasia
• Interlobular Bile Duct Deficiency
• No Atherosclerosis, Cardiac Ischemia, or Metabolic Abnormalities
• Prominent Subcutaneous Venous Patterns
• Sparse to Absent Scalp Hair (Onset in Second Decade of Life)
• Osteolysis of Distal Phalanges
• Osteolysis of Radii
• Severe Osteolysis
• Mandibular Osteolysis
• Osteolysis of Clavicles
• Generalized Lipoatrophy
• Spontaneously Resolves by 5 to 6 Months of Age
• Mutation in the HBG2 Gene
• Hemoglobin Oxygen Saturation Decreased
• Oxygen-Binding Capacity of Hemoglobin Decreased
• Mutation in the BTBD12 Gene
• Hypopigmentation Spots
• Squamous Cell Carcinoma
• Malformed Auricle
• Hypoplastic Malleus
• Pelvic Kidney
• Amnesia for Events
• Sleep Terrors Usually Remit during Adolescence
• Onset of Sleep Terrors at Age 4-12 Years
• Sleepwalking Triggered by Alcohol, Sleep Deprivation, Stress
• Sleepwalking Usually Remits in Adolescence
• Onset of Sleepwalking between 4 and 8 Years Old
• Association with Autoimmune Diseases
• C3 Nephritic Factor Autoantibodies
• Mutation in the CFD Gene
• Decreased Activity of Complement Factor D
• Complement Factor D Decreased
• Mutation in the Cyclin M2 Gene
• Mutation in the BCL2-Associated Athanogene 3 Gene
• Relatively Short Limbs
• Multiple Bone Deformities
• Weight Less than 5th Centile
• Renal Stones, Bilateral
• As of Aprill 2011, 2 Patients Have Been Described in Detail
• Mutation in the PRICKLE2 Gene
• Late Loss of Visual Acuity
• Cerebral and Cerebellar Atrophy