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Allelic Disorder Is Long QT Syndrome Type 3 Onset in Utero, Infancy or Early Childhood No Structural Defects His-Ventricular Conduction Time Increased QRS Duration Prolonged Atrial Inexcitability Hemangioma - Neck and Forehead Syndactyly (Toes 4 and 5) Bilateral Talipes Equinovarus Postaxial Oligodactyly Abnormal Karyotype in Single Reported Female Patient Lower Eyelid Coloboma Hypoplastic or Dysplastic Kidney Average Age at Diagnosis 17.8 Years Thromboembolic Stroke May Occur Isolated Atrial Fibrillation Peak Age of Onset in Second Decade Mutations in the AGPAT2 Gene Leptin Decreased Lytic Cystic Lesions in Appendicular Bones Retain Some Mechanical Adipose Tissue Nearly Complete Absence of Metabolically Active Adipose Tissue Insulin-Resistant Diabetes Mellitus at Puberty Possibly X-Linked Dominant Inheritance Only Women Have Been Reported Acanthosis Nigricans in Patients with Diabetes Total Cholesterol Increased Lipoproteins Increased Facial and Neck Adipose Tissue Normal or Increased Subcutaneous Truncal Adipose Tissue Increased Loss of Gluteal Adipose Tissue Adipose Tissue around the Neck Normal or Increased Facial Adipose Tissue Normal or Increased Ribose-5-Phosphate Isomerase Deficiency in Fibroblasts Cerebrospinal Fluid and Urine Ribitol and D-Arabitol Increased Mild Sensorimotor Neuropathy Mutation in the ZMPSTE24 Gene Nose Pinched Progressive Clavicular Acroosteolysis Resistance to Moderate and Severe Diastolic Hypertension Coarse Scalp Hair Broad Lateral Eyebrows Thick Helices Over-Folded Helices Mild Epicanthal Folds Thick and Elongated Superior Cerebellar Peduncle Deep Interpeduncular Fossa Lack of Verbal Communication Genetic Heterogeneity - See Susceptibility to Asperger Syndrome Associated with Fragile X Syndrome Associated with Untreated Phenylketonuria Associated with Tuberous Sclerosis Onset by 3 Years of Age Serotonin Increased (25%) Language Development Impaired Laterally Displaced Fifth Finger (Adults) Camptodactyly Small, Flat Epiphyses Progressive Arthropathy Childhood-Onset Arthralgias Genu Valgum (present at 1 Year) Fixed Elbow Flexion from Birth Progressive Intervertebral Space Narrowing Progressive Endplate Irregularity Severe Progressive Kyphoscoliosis Joint Contractures - Onset School Age Adult Height 110-130 cm Length by Age 6 Months <3rd Percentile Hunched up Shoulders (More Prominent in Adults) Broad Chest (Neonate) Normal Timely Language Development Progressive Deafness Severe Hearing Loss in Higher Frequencies by the Fifth Decade Mild to Moderate Hearing Loss Across most Frequencies Paroxysmal Sweating Diurnal Fluctuation of Symptoms Possibly Drug-Induced Dyskinesias Onset in Early Infancy Caused by Mutation in the Dopa Decarboxylase Gene Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical) Plasma, Cerebrospinal Fluid and Urine 3-Methoxytyrosine Increased Urine, Plasma and Cerebrospinal Fluid 3-Ortho-Methyldopa Increased Cerebrospinal Fluid, Plasma and Urine 5-Hydroxytryptophan Increased Increased CSF, Plasma, and Urinary L-Dopa Whole Blood Serotonin Decreased Cerebrospinal Fluid 5-Hydroxyindoleacetic Acid Decreased Cerebrospinal Fluid Homovanillic Acid Decreased Activity of Aromatic L Amino Acid Decarboxylase Decreased Paroxysmal Oculogyric Crises Impaired Voluntary Movement Episodic Body Temperature Increase in Some Patients Patchy Anhidrosis in Some Patients Acral Ulcers Autoamputation due to Acral Ulceration and Osteomyelitis Painless Fractures due to Injury Mild Reduction in Unmyelinated Fibers Normal Large Myelinated Fiber - Sensory Modalities Distal Temperature Insensitivity in Some Patients Distal Pain Insensitivity Onset at Age 15-33 Years