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Colors Indistinguishable Infantile Nystagmus Increased Prevalence in Individuals of Turkish Descent Slightly Increased Female-to-Male Ratio (1.4-2:1) Caused by Mutation in the Plasminogen Gene (PLG) Risk of Thrombotic Vascular Events Not Increased Pseudomembranous Inflammation of the Lung Pseudomembranous Inflammation of the Bronchi Pseudomembranous Inflammation of the Larynx Pseudomembranous Inflammation of the Nasopharynx Pseudomembranous Inflammation of the Sinuses Small Papules on Sun Exposed Areas Subepithelial Fibrin Deposition with Inflammation of Mucosal Tissues Plasminogen Activity Decreased Plasminogen Antigen Decreased Severe Gingivitis Pseudomembranous Inflammation of the Oral Mucosa Ligneous Gingivitis Formation of Mucosal Pseudomembranes That Progress to Plaques Redness of the Conjunctivae Chronic Tearing Pseudomembranous Inflammation of the Middle Ear Pseudomembranous Inflammation of the Gastrointestinal Mucosa Pseudomembranous, Calcified Plaques in the Renal Collecting System Congenital Occlusive Hydrocephalus Caused by Somatic Mutation in the GNAS Gene Caused by Mutation in the Fibulin 5 Gene Underdeveloped Elastic Fibers in Dermis Increased Vascularization, Reduced Collagen Bundle Size No Skin Hyperelasticity Excessive Skin Folds Sagging Cheeks Specific Visual Spatial Processing Defect Subset of Patients with SCO2 Mutations Have Cardioencephalomyopathy Fractional Excretion of Urate Increased (>50%) Tubular Defect in Presecretory Reabsorption of Urate Small or Absent Nails on the Hands and Feet Serum and Urine 2-Oxoglutarate Increased Small or Absent Distal Phalanges Peripheral Polyneuropathy Often Fatal in Infancy Due to Intractable Diarrhea Patients Need Lifelong Total Parenteral Nutrition Onset Usually in First Month of Life Transferrin Decreased - Iron Increased Abnormal Serum Liver Enzyme Levels Progressive Hypermethioninemia Galactosuria without Galactosemia Defective Antigen-Specific Skin Response Defective Antibody Response Square Forehead Diarrhea Secretory Severe Hepatocyte Iron Increased Mutation in the NOLA3 Gene Dense Vertebral Bodies X-Linked Inheritance Could Not Be Ruled out Poor Response to Levodopa Treatment Mean Age at Onset 27 Years Spasmodic Dysphonia due to Laryngeal Spasm Possibly Generalization of Dystonia Focal Dystonia at Onset Irregular Metacarpal Metaphyses Small, Rounded Epiphyses Longitudinal Metaphyseal Spurs Wide, Bracket-Shaped Metaphyses Ischiopubic Ossification Delayed Dense Irregular Pelvic Rim Widened Pubic Symphysis Wide Round Iliac Wings Sudden Death due to Cardiomyopathy Cardiac Involvement Occurs at Age 5-12 Years Muscle Involvement at Birth or in Infancy Caused by Mutation in the Titin Gene Dystrophic Changes (Later) Disruption of the M-Line Type 1 Fiber Predominance Wide Neck Curly Eyebrows High-Pitched, Coarse Voice Low Set Nuchal Hair Increased Hair on Arms and Legs Abundant Curly Eyebrows Abundant and Curly Eyelashes Abundant Thick, Curly Scalp Hair Progressive Growth Retardation Brachymetatarsals Brachymetacarpals Short, Tapered Metacarpals Short Tapered Phalanges Supination Limited Pronation Limited Rhizo-Meso-Acromelic Limb Shortening Lack of Lumbar Lordosis Generalized Epiphyseal Ossification Delay Prenatal Onset Mutation in the Prosaposin Gene Deficiency of Saposins A, B, C and D Multiple Tissue Biopsies Show Lysosomal Storage Disease Hypo- and Demyelination of the Brain Moro Reflex Exaggerated Mutation in the NKX2E Gene