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Mutation in the Seryl-tRNA Synthetase 2 Gene Enlarged Mitochondria with Paracrystalline Inclusions Denuded Tubules High Fractional Excretion of Magnesium Low Fractional Excretion of Uric Acid Enlarged Mitochondria Globally Delayed Development Peripapillary Retinal Pigment Epithelium Atrophy Indistinct Foveolar Reflex Fundus Examination Normal at Birth Sluggish Pupillary Reflex Color Vision Disturbed Visual Fields Moderately to Severely Restricted Oculodigital Sign of Franceschetti Ocular Pursuit Poor or Absent Visual Acuity Ranging from Perception of Light to 20% Progressive Vision Loss during Childhood or Adolescence Poor Vision at Birth Activity of Dihydrofolate Reductase Decreased Neuronal and Vascular Calcifications Cerebellar Hypoplasia and Atrophy Caused by Mutation in the Myozenin 2 Gene Asymmetric Septal Hypertrophy Repolarization Abnormalities All De Novo Mutations Small Vessel Brain Infarcts and Aneurysms Bilateral Stenoses of the Terminal Internal Carotid Artery Non-Specific Lung Disease Small Vessel Retinal Infarcts and Aneurysms Bilateral Periventricular White Matter Hyperintensities Solute Carrier Family 24 Member 1 Gene Absent A- and B-Waves under Scotopic Conditions Funduscopic Examination Normal Night Blindness Beginning in Early Childhood Hypoglycosylation of Alpha-Dystroglycan (Muscle Biopsy) Dystrophic Changes (Muscle Biopsy) No Structural Brain Anomalies Fibrosis Seen on Biopsy Nonspecific Inflammation Seen on Biopsy Giant Cell Hepatitis Seen on Biopsy Mutation in the SMAD3 Gene Meniscal Lesions Spondylolysis Uncovertebral Joint Osteoarthritis Facet Joint Osteoarthritis Uvula Abnormal Antigenically Defective C8 Detected Aortic Dissection with Little or No Aortic Enlargement Deletion Sizes Range from 287 kb to 4.4 Mb Sacral Crease No Cancer despite Harboring Complete Deletions of the TP53 Gene Earlobe Pits Bilaterally Inverted Nipples Limited or Nonverbal Speech Height in Females Increased Uterus Hypoplastic to Normal Dysgenetic Testes Normal-Appearing Female External Genitalia Ambiguous Male External Genitalia Mutation in the FADD Gene Left Sided Superior Vena Cava Draining Into Left Atrium Increased Fas Ligand Number of CD4- CD8- TCR-Alpha-Beta+ T Cells Increased Functional Hyposplenism Mild Liver Dysfunction Muscle Mass in the Thighs Decreased Neonatal Hypotonia and Later Amicable Behavior Diffuse White Matter Loss Mutation in the RHO Gene Early Onset Night Blindness and Abnormal Fundus Inferior and Inferonasal Retinal Pigmentation Abnormal Electroretinograms in Heterozygotes Mutation in the Phospholipase C Beta 1 Gene Regression of Development Psychomotor Development after Onset of Seizures Delayed Suppression with Ictal Burst Activities Abundant Slow-Waves and Fast Spike Activity Full Recovery after Attacks Onset Usually Associated with Febrile Illness Onset of Acute Encephalopathic Attacks in Childhood Cerebrospinal Fluid Lactate Increased during Acute Episodes Forefoot Supination Forefoot Adduction Distal Joint Contractures - Lower Limbs Distal Muscle Atrophy due to Neuropathy Distal Muscle Weakness due to Neuropathy Lesions in the Caudate and Putamen Seen on MRI Episodic Encephalopathic Attacks Associated with Infection Mutations with Partial Penetrance Caused by Mutation in the Presenilin-2 Gene Caused by Mutation in the Presenilin 1 Gene (PSEN1 104311-0034) Absence of All Distal Creases of Second to Fifth Digits Hypoplasia or Absence of Distal Phalanges of Great Toes Absence of Distal Phalanx of Fifth Digit Hypoplasia of Distal Phalanges of Second to Fourth Digits Breast Hypertrophy in Females Unilateral Vertebral Artery Hypoplasia Moderate Restrictive Ventilatory Defect Rib Fusion at Multiple Points