Sitemap | Symptoma

23301 to 23400 most common queries

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

Some Patients Require Cardiac Transplantation Mutation in the Cardiac Myosin Binding Protein C Gene Non-Sustained Ventricular Flutter Progressive and Sometimes Fatal Heart Failure May Be Fatal in Infancy Microvesicular Steatosis in Cardiomyocytes Number of TCR-Alpha-Beta+ T Cells Decreased Jerky Smooth Pursuit Abnormal Eye Movements 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 Atrophy Foveal Hyperfluorescence Rapidly Progressive Decrease of Visual Acuity Myocyte Disarray on Cardiac Biopsy Thinning of Ventricular Compacted Layer Thickening of Ventricular Noncompacted Layer Atrial Dilation 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 Motor Abnormalities 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 Retinal Dysfunction Mutation in the B3GALT6 Gene Finger Laxity Spatulate Finger 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 Prolonged Seizures 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 Absent Primitive Reflexes Normal Numbers of Sweat Glands Acquired Borderline Microcephaly