21601 to 21700 most common queries

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

• Thickened Inferior Pubic Ramus
• Onset of Edema in Childhood
• Mutation in the PTPN14 Gene
• Mutation in the WDR35 Gene
• Tremor Is Aggravated by Low Glucose or Light
• Jerk-Locked Premyoclonus Spikes
• Giant Cortical Somatosensory Evoked Potentials (SEPs)
• Electrophysiologic Studies Indicate Cortical Origin
• Generalized and Focal Spike-and-Slow-Waves
• Walking Impairment due to Myoclonus (Late Symptom)
• Intrauterine Growth Retardation
• Variable Age of Onset from 6 to 50 Years of Age
• Autosomal Recessive Inheritance of Type 2N
• Autosomal Dominant Inheritance in Most Types
• There Are Several Subtypes
• Mutation in the Von Willebrand Factor Gene
• Patients with Type 2B Develop Thrombocytopenia
• Bleeding Prolonged due to a Qualitative Defect in the VWF Protein
• Factor VIII Decreased in Patients with Type 2N
• Thick Hair
• Some Fragmented or Disrupted Golgi
• Impaired O-Glycosylation
• N-Glycosylation Impaired
• Galactosylation Defects
• Sialylation Defects
• Serum Transferrin Isoelectric Focusing Shows Type 2 Pattern
• Recurrent Gastrointestinal Infections
• Thin Corpus Callosum
• Moderately to Severely Delayed Psychomotor Development
• Periventricular White Matter Abnormalities
• Corpus Callosum Abnormalities
• Caused by Mutation in the DEAD-H Box 11 Gene
• Hyperpigmented Patches
• Hypopigmented Patches
• Coloboma of the Right Optic Disc
• Bilateral Hypoplastic Cochlea
• Caused by Mutation in the Anoctamin 5 Gene
• Muscle Biopsy Shows Disruption of the Sarcolemmal Membrane
• Chelation Therapy Can Result in Clinical Improvement
• Mutation in the SLC30A10 Gene
• Erythropoietin Increased
• Manganese Increased
• Sensorimotor Neuropathy
• Lesions in the Anterior Pituitary
• Hyperintensities in the Basal Ganglia (MRI)
• Loss of Independent Ambulation
• Progression in Adulthood
• Onset of Mild Symptoms in First or Second Decade
• Distal Sensation Decreased
• Hypomyelinating Leukoencephalopathy
• Patients Who Acquire Ability to Walk May Lose It
• Prenatal Onset or Onset in Infancy
• Conduction Abnormalities
• Talipes Foot Deformities
• Variability in Fiber Size
• Mutation in the Integrin Alpha 7 Gene
• Lack of Integrin Alpha-7 Staining
• Mild Dystrophic Changes (Muscle Biopsy)
• Absence of Inner and Outer Dynein Arms of Cilia
• Mutation in the Leucine Rich Repeat Containing Protein 50 Gene
• Recurrent Respiratory Infections due to Defective Cilia
• Prominent Central Incisors
• Hypotelorism
• Short Smooth Philtrum
• Happy Disposition
• Volume of the Cerebral White Matter Decreased
• Language Development Limited to a Few Words
• Motor Development Delayed
• Mutation in the CLEC7A Gene
• Caused by Mutation in the Desmocollin 3 Gene
• Sparse to Absent Body Hair
• Normal Sebaceous Glands
• Lack of Mucosal Vesicles
• Fluid-Filled Vesicles on Scalp and Skin, Diameter <1 cm
• Absent Cone Responses on Electroretinography
• Mutation in the Renin Gene
• Urine Uromodulin Decreased or Absent
• Focal Tubular Dystrophy
• Focal Tubular Atrophy
• Slowly Progressive Renal Failure
• Caused by Mutation in the Tolloid-Like 1 Gene
• Aneurysm of Interatrial Septum
• Atrial Septal Defect Type 1 or 2
• Autosomal Recessive Inheritance with Earlier Onset Has Been Suggested
• Onset in Second Decade or as Young Adult
• Mutation in the RRM2B Gene
• Mutation in the RIN2 Gene
• Receding Anterior Hairline
• Soft Redundant Skin - Especially Facial
• Normal to Mildly Delayed Development
• COX-Depleted Fibers
• No Cytolysis or Abnormal Keratohyalin Granules
• Keratosis Pilaris of Arms and Legs
• Whitish Opalescence of Buccal Mucosa
• Whitish Opalescence of Hard Palate
• Whitish Opalescence of Glans Penis in Circumcised Males
• Electron-Dense Granulofilamentous Material in Sarcoplasma
• L-Dopa-Induced Dyskinesias
• Foot Dragging May Appear in Childhood
• Caused by Mutation in the Phospholipase A2 Group VI Gene