19401 to 19500 most common queries

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

• Progressive and Sometimes Fatal Heart Failure
• Microvesicular Steatosis in Cardiomyocytes
• Number of TCR-Alpha-Beta+ T Cells Decreased
• Jerky Smooth Pursuit
• Progressive Kidney Disease
• Some Patients Show Onset in Childhood
• Mutation in the ANKS6 Gene
• Onset of Hearing Loss in First or Second Decade
• Onset of Lipodystrophy in Early Childhood
• Visceral Fat Increased
• Loss of Subcutaneous Fat Particularly Affecting the Limbs
• Sural Nerve Biopsy Shows Thin Myelination
• Mutation in the RAB28 Gene
• Scotopic Responses on Electroretinography Reduced
• Non-Detectable Photopic Responses on Electroretinography
• Lack of Photoreceptors in Fovea by Optical Coherence Tomography
• Defects in All Axes of Color Vision
• Foveal Hyperfluorescence
• Myocyte Disarray on Cardiac Biopsy
• Thinning of Ventricular Compacted Layer
• Thickening of Ventricular Noncompacted Layer
• Possibly Multiple Seizure Types
• Onset between Ages 1 to 3 Years
• Caused by Mutation in the Dynamin-2 Gene
• Thin Bones
• Possibly Myopathic Features (EMG)
• Small, Rounded Fibers
• Muscle Biopsy Shows Atrophic Fibers
• Caused by Mutation in the Estrogen Receptor-1 Gene
• Early Atherosclerosis of Coronary Artery
• Severe Facial Acne
• Axillary Acanthosis Nigricans
• Incomplete Epiphyseal Closures in Adulthood
• Bone Mineral Density of Lumbar Spine Decreased
• Low Cortical Volumetric Bone Density
• Low Trabecular Volumetric Bone Density
• Continued Growth Into Adulthood
• Breast Development Unresponsive to Oral Estrogen
• Absent Breast Development
• Large Multicystic Ovaries
• Luteinizing Hormone Elevated
• Estrone Elevated
• Elevated Serum Estradiol
• Mutation in the CTSF Gene
• Accumulation of Autofluorescent Material in Neurons
• Mutation in the Alpha 11 Guanine Nucleotide-Binding Protein Gene
• Phosphorus Normal or Mildly Increased
• Parathyroid Hormone Levels Low to Low Normal
• Possibly Abnormal ERG in Clinically Unaffected Heterozygotes
• Extinguished Responses on Electroretinography
• Vision Limited to Detection of Hand Motion
• Features Are Variable
• Mutation in the RIT1 Gene
• Age at Onset Ranges from Birth to 4 Years
• Muscle Biopsy Shows Hypoglycosylation of Alpha Dystroglycan
• Mutation in the GDP Mannose Pyrophosphorylase B Gene
• Muscle Tone Increased - Early in Life
• Delayed or Absent Independent Walking
• Mutation in the GMPPB Gene
• Mutation in the B3GALT6 Gene
• Finger Laxity
• Large Joint Laxity
• Caused by Mutation in the Makorin-3 Gene
• Premature Pubic Hair Maturation
• Premature Increase in Penile Length
• Premature Increase in Testicular Volume
• Prepubertal Levels of Estradiol Elevated
• Prepubertal Levels of Testosterone Elevated
• Premature Pubertal Stimulated Levels of LH
• Premature Pubertal Basal Levels of Luteinizing Hormone
• Mutation in the Caveolin 1 Gene
• Pulmonary Arteries Show Medial Hypertrophy
• Vascular Wall Remodeling of Pulmonary Artery
• Seizures Are Refractory to Medication
• Seizures May Be Triggered by Infection
• High-Frequency Seizures
• Loss of Eye Contact
• Progressive Cerebral Atrophy (MRI)
• Multifocal Spikes and Progressive Slowing of Background Activity
• Migrating Clonic Jerks
• Focal Tonic Clonic Seizures
• Cerebrospinal Fluid and Serum Glycine Increased
• Defects in Lipoate-Containing Mitochondrial Enzyme Complexes
• Cortical Cytotoxic Edema
• Hypoplasia of the Medulla Oblongata
• Normal Numbers of Sweat Glands
• Acquired Borderline Microcephaly
• Mutation in the POFUT1 Gene
• Keratin Filaments Normal
• Melanocytes Lack Melanosomes
• Small Melanocytes
• Abnormal Basal Pigment Granule Distribution
• Dark Brown Hyperkeratotic Papules on Neck, Chest and Back
• Hyperpigmentation in a Reticular Pattern Primarily on Flexural Skin
• Patients Become Wheelchair Bound as Adults
• Onset between 15 and 27 Years
• Mutation in the DES Gene
• Rare Ventricular Extrasystoles
• Mild Scapular Winging
• No Myofibrillar Abnormalities or Protein Aggregation