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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 Allelic to Cowden Disease Which Has a Later Age at Onset