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Onset Usually in First or Second Decades Abnormal Pupillary Light Reflexes Brainstem Auditory Evoked Potentials Prolonged Secondary Axonal Degeneration and Regeneration Distal Sensory Impairment of Touch, Vibration, Proprioception Proximal Lower Limb Involvement Possibly Distal Upper Limb Involvement (Later) Some Patients May Become Wheelchair Bound Mutation in the Myosin Heavy Chain 3 Gene Precocious Arthrosis Multimerin Decreased Beta-Thromboglobulin Normal Normal Thrombospondin Von Willebrand Factor Normal Platelet Fibrinogen Normal Absent Platelet Aggregation Response to Epinephrine Platelet Count Mildly Decreased to Low-Normal Spontaneous Resolution Usually after 12 Months of Age Average Onset 6-10 Months Ictal EEG Showes Focal Onset in Central or Parietal or Temporal Regions Hypertonia and Rigidity during Seizures Undertubulation (Lack of Diaphyseal Modeling) Crumpled Long Bones Osteopenic Long Bones Skull Softening Mutation in the Leucine and Proline Enriched Proteoglycan 1 Gene Overmodification of Type 1 Collagen Long Phalanges Externally Rotated and Abducted Legs Severe Osteopenia Patients Often Become Wheelchair-Bound Allelic Disorder to Benign Hereditary Chorea Which Is Less Severe 'Compensated Hypothyroidism' with Increased TSH and Normal T4 Responsive to Oral Mannose Therapy Bleeding Episodes Females More Severely Affected than Males Calcaneocuboidal Fusions Broad, Thimble-Like Middle Phalanges Bulging of Temporal Fossae Caused by Mutation in the CCM2 Gene Malformed Toes Selective Tooth Agenesis Mutation in the NPHP3 Gene Variable Rate of Progression Profound Deafness by 6th Decade Hearing Loss Begins with Loss of High Frequencies Thyroxine May Be Decreased or Normal Difficulty Walking in Childhood Hypoplasia of the Thyroid Gland in Some Patients Rarely Patients May be Asymptomatic Mutation in the Complement Factor I Gene Susceptibility to Haemophilus Influenzae Infections Increased Increased Susceptibility to Streptococcus Pneumoniae Infections Susceptibility to Neisseria Meningitidis Infections Increased Complement C3 Decreased Complement Factor B Decreased Depletion of Complement Components Complement Factor I Decreased Patients May Become Ventilator-Dependent Contractures Hand and Finger Muscles Scapuloperoneal Muscular Atrophy due to Denervation Distal Muscle Atrophy due to Denervation Sural Nerve Biopsy Shows Normal Findings EMG Shows Neurogenic Changes and Denervation Difficulty Walking and Climbing Stairs Distal Muscle Weakness and Atrophy due to Motor Neuronopathy Bilateral Prelingual Sensorineural Hearing Loss Rod-Cone Dystrophy on ERG Onset of Symptoms Age 5-30 Mutation in the NR2E3 Gene Reduced Penetrance Episodes Not Triggered by Alcohol, Caffeine or Stress Episodic Dystonia that Primarily Affects Hands and Feet Ossification Underlying the Skin Defect Decreased Cores Extend Along Length of Muscle Fiber Mildly Decreased Intelligence Has Been Reported Type 2 - Vitreous Phenotype Onset of Osteoarthritis in Teens to Early Adulthood Enlarged PIP and DIP Joints MCP Joints Enlarged Osteoarthritis - Hips Knees Shoulders Wrists Hands Height Compared to Unaffected Siblings Decreased Mutation in the Phosphatase and Tensin Homolog Gene Levodopa-Induced Dyskinesias Diurnal Fluctuation No Abdominal or Neurologic Symptoms in Harderoporphyria Attacks Precipitated by Drugs, Alcohol, Endocrine Factors (HCP) Attacks Rarely Occur before Puberty Respiratory Paralysis (HCP) Neonatal Hemolytic Anemia (Harderoporphyria) Harderoporphyrin Excretion Increased Fecal Coproporphyrin Isomer III:I Ratio Increased (HCP) Diarrhea (HCP) Abdominal Pain (HCP) Splenomegaly - Harderoporphyria Hepatomegaly - Harderoporphyria Paranoia (HCP) Hallucinations (HCP) Insomnia (HCP) Depression (HCP)