30501 to 30600 most common queries

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

• Possibly Death in Infancy due to Sepsis
• Mutation in the Keratin 5 Gene
• Clumping of Keratin Filaments in Basal Epidermal Cells
• Hemorrhagic Blisters
• Blistering of Hands, Elbows, Knees, Feet
• Blistering in Clusters
• Early Adult Onset Has Been Reported
• Onset in Early Childhood or Adolescence
• Mutation in the KRT14 Gene
• Caused by Mutation in the Keratin 5 Gene
• Focal Hyperkeratosis on Palms and Soles
• Atrophic Scarring
• Recurrent Blistering of the Palms and Soles
• Caused by Mutation in the Keratin 14 Gene (KRT14 148066-0001)
• Mutation in the KRT5 Gene
• No Clumping of Keratin Filaments in Epidermal Basal Cells
• Lack of Scarring
• Recurrent Generalized Blistering (after Mild Physical Trauma)
• Impaired Pupillary Response to Light
• Mutation in the Family with Sequence Similarity 134 Member B Gene
• Loss of Small Myelinated Fibers
• Axonal Neuropathy (Sural Nerve Biopsy)
• Anteriorly Displaced Ears
• Normal or Near-Normal Fetal Movements
• Gracile Bones
• Bilateral Humeral Fractures
• Frog Leg Positioning of the Legs
• Slight Ankle Varus Deformity
• Absence of Germ Cells
• Edema at Birth
• 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
• Pelvicalyceal Dilatation
• 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
• Prominent Perivascular Spaces
• Death Often Occurs in Childhood
• Mutation in the Vaccinia-Related Kinase 1 Gene
• Gliosis in the Basal Ganglia
• Gliosis in Brain Stem
• Mutation in the Transformation Gene ERBB-3
• 3-6 Hz Polyspikes
• Areflexia due to Muscle Weakness
• 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
• Hypopigmented Iris
• Short Stature (Final Adult Height: <152 cm)
• Earlier Onset in Female Mutation Carriers
• Approximately 60% of BRRS Patients Have PTEN Mutations