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Amount and Activity of Mitochondrial Complexes I and IV Decreased Defective Oxidative Phosphorylation in Fibroblasts Lip Protrusion Oromotor Difficulties Severely Delayed Speech Development Corneal Diameter Decreases with Decreasing Axial Length Corneal Steepening Proportional to the Degree of Axial Foreshortening Spontaneous Hyphema Optic Nerve Excavation Thinning of Central Cornea Shallow Anterior Chamber and Angle Ventricular Repolarization Abnormalities Short Broad Columella Sensorimotor Polyneuropathy Cerebellar Atrophy Progressive Risk of Developing Early Onset Aggressive Cancers Increased Small Cell Carcinoma of the Ovary of Hypercalcemic Type Mutation in the WDR72 Gene Variable Malocclusions Teeth Sensitive to Thermal and Physical Stimuli Enamel Layer Shows Reduced Radiodensity Rough Enamel Posteruptive Loss of Surface Enamel Creamy Enamel at Time of Eruption Opaque Enamel at Time of Eruption Left Ventricular Systolic Dysfunction Left Ventricular Wall Motion Abnormalities Dilated Aortic Root Mutation in the SCN3B Gene Brugada Pattern on Electrocardiography Sparse, Androgenic Hair Hypergonadotropic Hypogonadism Relative or Absolute Central Scotoma Bilateral Reduced Visual Acuity Progressive Mild Sensorineural Hearing Loss Sensory Motor Axonal Neuropathy Myopathic and Neurogenic Changes Seen on EMG Chronic Denervation Psychiatric Abnormalities Temporo-Occipital Polymicrogyria Cutaneous Folliculitis Caused by Mutation in the Matrix Metalloproteinase 20 Gene Thin Enamel Layer Yellowish Brown Enamel Basal Ganglia Atrophy Usually Death in Early Childhood Lack of Visual Fixation Microcephaly Progressive (up to 11 Sd) Gyral Pattern Simplified Dragonfly Pattern on Imaging Pontine Atrophy Cerebellar Atrophy - Particularly of the Hemispheres Hyperkinetic Involuntary Movements Risk of Thromboembolic Stroke QTc Interval Prolonged Paroxysmal or Persistent Atrial Fibrillation Seizures Are Fever-Sensitive Focal Dyscognitive Seizures Endocrine Defects Evolve over Time Lack of Growth Hormone Response to Stimulation Insulin-Like Growth Factor 1 Concentration Low Fine Motor Task Disruption Bleeding Tendency Not Increased Normal Platelet Size and Morphology Mutation in the RNF168 Gene Bronchial Telangiectasia Progressive Pulmonary Failure Defect in Double-Stranded DNA Repair IgA IgG and IgM Variably Decreased Ocular Telangiectasia Mildly Impaired Motor Control Risk of Sudden Death with Exertion Mutation in the SCN4B Gene Intermittent Atrioventricular Node Block 2:1 Late Onset T-Wave Long Isoelectric ST Segment Prolongation of Corrected QT Interval Mutation in the KCNH1 Gene Hypoplastic or Aplastic Nails of Halluces Hypoplastic or Aplastic Thumb Nails Central Translucency of Distal Phalanges of Halluces Thick Vermilion Border of the Lips Episodes Last 2-7 Days Episodes Are Triggered by Cold Exposure Mutations in the NLR Family Pyrin Domain Containing Protein 12 Gene Episodic Rash C-Reactive Protein May Be Increased Episodic Aphthous Ulcers Risk of Sudden Death in Childhood due to Cardiac Arrest Mutation in the GYS1 Gene Lack of Glycogen in Cardiomyocytes Myocyte Hypertrophy without Disarray or Fibrosis Seen on Biopsy Decrease in Stroke Volume on Exercise Testing Glycogen Content Normal (Biopsy) Predominance of Oxidative Fibers Glycogen Deficiency in Muscle Fibers Low Maximum Workload on Exercise Testing Muscle Fatigability Intrafamilial Phenotypic Variability Mutation in the NOBOX Gene