29601 to 29700 most common queries

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

• Diverticular Perforation
• Severely Wasted Build
• Flat Thin Pectus
• Bladder Enlarged
• Recurrent Cystitis
• Recurrent Large Subcutaneous Hematomas
• Mildly Enlarged Ventricles
• Caused by Mutation in the LIM Domain Binding Protein 3 Gene
• Left Ventricular Non-Compaction
• Left Ventricular Dilation
• Abnormal Bone Marrow Karyotype
• Onset: Childhood to Adult
• Audiogram May Be Ascending
• Mutation in the SLC26A2 Gene
• Mutation in the Ankyrin 2 Gene
• Absent Delayed Hypersensitivity Skin Test
• Numbers of Natural Killer Cells Markedly Reduced
• Intrinsic B Cell Defect
• Increased Proportion of CD19+ B Cells
• Markedly Reduced CD3+ Proportion
• Undetectable or Absent Peripheral Lymph Nodes
• Complex Congenital Heart Defect
• Metatarsal Synostoses (2-5)
• Brachymetatarsy Rays 3-5
• Dysfunctional Ankle Joints
• Metacarpal Synostosis (2-5)
• Brachymetacarpy (Rays 3-5)
• Mild Vertebral Anomalies
• Limited Range of Joints Motion
• Hypoplasia of the Soft Palate
• Short Umbilical Cord with Unusually Long Skin Coverage
• Familial Enteropathy
• Highly Variable Phenotype That Includes Several Subtypes
• No Leukocyte Inclusions on Giemsa Staining
• Mutation in the WD Repeat Containing Protein 62
• Relative Preservation of the Cerebellum
• Abnormal Gyral Pattern
• Small Brain
• Deformities of Metatarsal Bones
• Partial Duplication of mtDNA
• Episodic Cold-Triggered Erythrocyanosis of Toes and Fingers
• Heteroplasmic Partial Duplication of mtDNA
• Urinary Loss of Potassium, Sodium, Calcium and Chloride
• Frequently Death in Infancy
• Deletion of mtDNA
• Vacuolization of Bone Marrow Precursors
• Plasma Ketone Body or Lactate : Pyruvate Ratios Increased
• Mitochondrial Deletions
• 3-Methylglutaconicaciduria
• Exocrine Pancreatic Dysfunction
• Mutation in the MTND6 Gene
• Mutation in the Mitochondrial Transfer RNA Serine 2 Gene
• Mutation in the MTTH Gene
• EM Shows Subsarcolemmal Pleomorphic Mitochondria
• Resting and Exercise-Induced Lactate Increased
• Ragged Red Fibers on Muscle Biopsy
• Episodic Sudden Headache
• Caused by Deletion of Multiple Genes in the Mitochondrial DNA
• Cerebrospinal Fluid Protein Increased > 100 mg dl^-1
• Ragged Red Fibers (Muscle Biopsy)
• Normal Cognition
• Caused by Mutation in the Sedlin Gene
• Mutation in the Retinoschisin Gene
• Significantly Decreased Axial Length
• About 8% of Female Mutation Carriers Develop Dilated Cardiomyopathy
• Mild Muscle Weakness in 20% of Female Mutation Carriers
• Mild Dwarfism
• Esophageal Leiomyomatosis
• Genital Leiomyomatosis
• Allelic Disorder to IFAP Syndrome
• Mutation in the MBTPS2 Gene
• Dry Bumpy Skin
• Mental Retardation, Spasticity and Adducted Thumbs in Survivors
• Mutation in the L1 Cell Adhesion Molecule Gene
• Mutation in the FGD1 Gene
• Mild to Moderate Growth Deficiency
• Color Vision Defects Not in All Cases
• Retinal Pigment Abnormalities
• Electroretinographic Flicker Reduced
• Refractive Error - Usually Combined Hyperopic Astigmatism
• Stereopsis Decreased to Absent
• Null Point Shifts Every Few Seconds to Minutes
• Adult Onset May Also Occur
• Mutation in the ATPase, Cu++ Transporting, Alpha Polypeptide
• Mild Distal Sensory Impairment
• Survival to Advanced Age
• Usually Onset in 3rd or 4th Decade of Life
• Caused by Mutation in the Dystrophin Gene
• Muscle Biopsy Shows Abnormal Dystrophin
• Speech Delay
• Mutation in the RAB39B Gene
• Some Female Carriers Are More Mildly Affected
• Early Death in Males
• Mutation in the X-Linked Aristaless-Related Homeobox Gene
• Pinched Nasal Alae
• Thin Optic Nerves
• Underdeveloped Scrotal Folds
• Gliosis of the White Matter
• Dysplastic Basal Ganglia
• Moderately Thickened Cortex