25701 to 25800 most common queries

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

• Poor Response to L-Dopa
• Mutation in the SLC6A3 Gene
• Cerebrospinal Fluid 5-Hydroxyindoleacetic Acid Normal
• Cerebrospinal Fluid Homovanillic Acid Increased
• Drusen
• Well Demarcated Atrophy of Choriocapillaris
• Well-Demarcated Atrophy of Pigment Epithelium
• Well-Demarcated Atrophy of Central Retina
• Progressive Loss of Central Vision
• Duplicated Appendix and Distal Colon
• Bifid Phallus
• Delayed Myelination (MRI)
• Development Normal
• Hepatic GABA Transaminase Activity Decreased
• Increased Growth Hormone
• Beta-Alanine Increased
• Plasma, Cerebrospinal Fluid, and Urine GABA Increased
• Abnormal Gyri
• Small Pits Anterior to the Helix
• Contiguous Gene Duplication Syndrome
• Duplication of 0.25 to 1.08 Mb on Chromosome 5p13
• Overweight as Adult
• Microduplication of Chromosome 5p13
• Those with Intermediate Repeat Expansions Show Reduced Penetrance
• Mutant Alleles Have 47 to 63 Repeats
• Normal Alleles Have 25 to 44 Repeats
• Heterozygosity: Mild Transient Hypothyroidism in Infancy
• Caused by Mutation in the Dual Oxidase 2 Gene (DUOX2)
• Radioactive Iodine Uptake Increased
• Iodide Organification Defect
• Mutation in the SCN1A Gene
• Mutation in the Homolog of the S Cerevisiae COQ2 Gene
• All Reported Cases Have Resulted from De Novo Mutations
• Mutation in the PAFAH1B1 Gene
• Death Often Occurs in Childhood
• Mutation in the Vaccinia-Related Kinase 1 Gene
• Mutation in the Transformation Gene ERBB-3
• 3-6 Hz Polyspikes
• Mutation in the Purine Nucleoside Phosphorylase Gene
• Mutation in the TUBA8 Gene
• Dependent on Total Parenteral Nutrition
• No Lamina Propria Mononuclear Cell Infiltration
• Crowded Epithelial Cells Forming Tufts
• Onset in the Neonatal Period (0-38 Days)
• Birth Weight Decreased
• Electrolyte Disturbances due to Intractable Diarrhea
• Chronic Inflammatory Arthritis
• Mutation in the HGF Gene
• Mutation in the Tyrosyl-tRNA-Synthetase Gene
• Variable Congenital Cardiac Malformations
• Accessory Carpal Ossification Centers
• Short and Cleft Vertebral Bodies on Lateral Projection
• Interpedicular Distance Widened at L1 (AP View)
• Caused by Mutation in the GRHL2 Gene
• Mutation in the Homolog of the Drosophila SNAI2 Gene
• Pruritus during Pregnancy Resolves Postpartum
• Bile Acids Increased during Pregnancy, Resolves Postpartum
• Allelic Disorder to Duane Radial Ray Syndrome
• Hypoplasia of the Hand Muscles
• Hypoplasia of the Bones of the Upper Limbs and Wrists
• Contractures of the Upper Limb Joints
• Short Stature (Final Adult Height: <152 cm)
• Earlier Onset in Female Mutation Carriers
• Approximately 60% of BRRS Patients Have PTEN Mutations
• Allelic to Cowden Disease Which Has a Later Age at Onset
• Mutation in the SIX3 Gene
• Blind-Ending Proboscis
• Varying Degrees of Doubling of Intrinsic Ocular Structures
• Premaxillary Agenesis
• Hypophyseal Agenesis
• Endocrine Dysgenesis
• Vertical Talipes
• Forearm Supination Decreased
• Shortening of Various Muscle-Tendon Groups in Feet
• Shortening of Various Muscle-Tendon Groups in Legs
• Shortening of Flexor Profundus Muscle Tendon Unit
• Mild Joint Contractures with Sparing of the Elbows
• Enlargement of Type I Muscle Fibers Consistent with Denervation
• Mutation in the Myogenic Factor 6 Gene
• Possibly Negative Repeat Expansion (5%)
• Congenital - Over 2 000 Repeats
• Adult-Onset: 100-1,000 Repeats
• Mildly Affected - 50-150 Repeats
• Genetic Anticipation Occurs
• Loss of Hypocretin Secreting Neurons in the Hypothalamus
• Mean Sleep Latency is Less than 5-8 Minutes
• Rarely Adult Onset
• Death in Childhood Often Results from Respiratory Insufficiency
• Caused by Mutation in the Alpha-Actin-1 Gene
• Severe Form: No Spontaneous Activity at Birth
• Severe Form May Never Achieve Sitting or Walking
• Onset Usually in First to Third Decade of Life
• Skin Folds or Creases (Neck or Forearm)
• Dorsally Rotated Ears
• Muscle Atrophy Usually Following Neuropathy
• Muscle Weakness Usually Following Neuropathy
• Acute Recurrent Episodes of Brachial Plexus Neuropathy
• Rate of Miscarriage in Affected Individuals Increased
• Mutation in the CA8 Gene
• Caused by Mutation in the Tuberin Gene (TSC2 191092-0001)