38501 to 38600 most common queries

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

• Activity of Complexes II and III Decreased
• Hypohidrosis and-or Heat Intolerance
• One Patient Has Been Reported (last Curated January 2014)
• Reticulolinear Skin Defects Over Face and Neck
• Patients Have Supernumerary Chromosome
• Infantile-Onset Seizures
• Non-Syndromic Hereditary Hearing Impairment
• Motor Development Delayed
• Sclerosis of Posterior Part of Vertebrae
• Affected Children Are Unable to Sit without Support
• Right Ventricular Hypertrophy on ECG
• Mild Demyelination (Sural Nerve Biopsy)
• Fecal Bile Acid Increased
• Menstrual Abnormality
• Mean Male Length at Birth: 53±4.4 cm
• Mutation in the Tubulin Beta 2B Gene
• Decreased Coenzyme Q10
• Mutation in the STT3B Gene
• Telangiectatic Lesions
• One Large Family Reported (as of 2008)
• Normal Nerve Conduction Velocities
• Mutation in the CLEC7A Gene
• Mandible Involvement
• Chronic Watery Diarrhea
• Allelic Disorder to Paramyotonia Congenita
• Individuals Develop Ability to Stand and Walk
• Pectus - Asymmetric Sternum
• Blindness by Third Decade
• Neuronal Migration Defect
• Eyelid Closure Limited
• Onset of End-Stage Renal Disease 15-20 Years after Onset
• Poor Responsiveness
• Congenital Poikiloderma on Face and Exposed Skin
• Mildly Abnormal Glycosylation of Serum Transferrin - Type 1 Pattern
• Caused by Mutation in the Desmocollin 3 Gene
• Dyspnea due to Respiratory Muscle Weakness
• Onset of Neurologic Symptoms in Teenage Years
• Drug-induced Hemorrhagic Disorder
• Mutations in the Plectin 1 Gene
• Onset in Late Childhood or Adulthood
• Cold Sensitivity Has Been Reported
• Presentation at Age >18 Months
• Onset of Proteinuria in Third to Fourth Decade of Life
• Outward Ulnar Bowing
• Hypertonia - Peripheral Dystonia
• Frontotemporoparietal Cortical Dysplasia
• Sparse or Absent Scalp Hair
• Atrophic Sural Nerve
• Asymmetric Face
• No Visual Tracking
• Sparse to Absent Body Hair
• Mutation in the NT5C2 Gene
• Distal Muscle Atrophy More Severe in the Upper Limbs
• Onychogryphosis of Large Toenails
• Child often Sits Unsupported but Never Ambulates
• Muscle Weakness Usually Does Not Occur
• Muscle Biopsy Shows Myopathic or Dystrophic Changes
• Fatty Infiltration of Pancreas
• Mutation in the DST Gene
• Outward Radial Bowing
• Sinoatrial and Atrioventricular Progressive Conduction Disease
• Female Pelvic Mass
• Absence of Sensory Nerve Conduction Velocities
• Reticulolinear Skin Defects Congenital
• Motor Neuropathy More Prominent than Sensory Neuropathy
• Incomplete N-Glycosylation of Cellular Proteins
• Hyperextension of Knees
• See-Saw Winking
• Abnormal Hemidesmosome Intracellular Attachment Plates
• Normal Sebaceous Glands
• Mutation in the Centromeric Protein J Gene
• Males Died in Neonatal Period
• Small, Irregular Proximal Tibial Epiphyses
• Death between 2 Years of Age and Young Adulthood
• Immobility by the Third Decade
• Pelvis Ultrasound Abnormal
• Extra Ossicles
• Lymphedema of Upper and-or Lower Limbs
• Episodic Erythematous Blotching
• Most Patients Retain Ambulation with Aids
• Right-Sided Diaphragmatic Hernia
• Impaired Keratin Filament Insertion into Hemidesmosomes
• Macular Red Spot
• Abnormal Glycosylation of Serum Transferrin (Type 1 Pattern)
• Lack of Mucosal Vesicles
• Onset of Disease within the First Year of Life
• Males Are More Severely Affected than Females
• Caused by Mutation in the CD36 Antigen Gene (CD36)
• Cataplexy Often Triggered by Strong Emotions
• Presentation between 6 - 18 Months
• Actinomyces Bovis
• Calcifications of Falx, Tentorium and Meninges
• Right-Sided Ureteral Duplication
• Duplicated Base of Metatarsal II
• Few Fungiform Papillae on the Tongue
• Blisters Originating in Basal Cells above Hemidesmosomes
• Hang Weakness
• Focal Lymphocytic and Macrophage Infiltrates (Biopsy)
• Newborn Period is Critical for Survival
• Enteric Fistula