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Mutation in the RBBP8 Gene Bilateral Hallux Duplication Caused by Mutation in the SAL-Like Protein 2 Gene Lymphoid Nodules on Respiratory Mucosal Surfaces Patellar Hypoplasia or Aplasia Puberty Delayed or Absent Limbitis 78% due to Chromosome 14 Maternal Uniparental Disomy Early Onset Type 2 Diabetes Mutation in the GTPBP3 Gene Muscle Amyotrophy Leukonychia More Pronounced on Fingernails than Toenails Frequent Staphylococcus Aureus Infections Dysexecutive Behavior Osteochondritis Dissecans of the Hip Limbs Fixed in External Rotation Onset at Age 5-10 Years Mutation in the CHST8 Gene No Pruritis No Erythema Variable Presentation Moderate-Low Complement C3 Positive Anti-Nucleus Antibodies Recurrent Stomatitis Head Circumference at Birth > 97th Percentile Birthweight >97th Percentile Birth Length > 97th Percentile Mild Hydrocephaly Small Size of the Left Hippocampus Gyri Anomalies of the Temporal Area Anomalies of the Folding of the Right Sylvian Area Cavum Septum Pellucidum Atrophy Multiple Lesions in the White Matter Mutation in the Kinesin Family Member 14 Gene Broad Nasal Root Anteverted Nose Ureteral Hypoplasia Arhinencephaly Agenesis of the Occipital Lobes Mutation in the CALM2 Gene Exercise Induced Polymorphic Ventricular Ectopy Fetal Bradycardia No Respiratory Effort at Birth Fixed Flexion of Hands Fixed Extension Deformity of Knees Severely Adducted Lower Limbs Fixed Flexion Deformity at Hips Severe Polyhydramnios Developmental Delay after Multiple Episodes of Cardiac Arrest Caused by Mutation in the Calmodulin 1 Gene 2:1 Atrioventricular Block Syncopal Episodes Non-Sustained Ventricular Tachycardia Recurrent Episodes of Ventricular Fibrillation Fatty Changes Tubulopathy Structurally Abnormal Mitochondria Combined Deficiency of Oxidative Phosphorylation Complexes I and IV Vacuolization Neuronal Loss Neurodegeneration Cerebral Cortical and Cerebellar Atrophy Profound Psychomotor Development Delay Mild Intellectual Disability Onset 23 to 30 Years Toe and Foot Dorsiflexor Weakness Knee and Hip Flexor Weakness due to Peripheral Neuropathy Hyporeflexia or Areflexia in Upper and Lower Limbs Adult Onset of Muscle Symptoms Mutation in the CASQ1 Gene Enlarged Vesicles of Sarcoplasmic Reticulum Origin Terminal Cisternae of the Sarcoplasmic Reticulum Enlarged Abnormal Sarcoplasmic Reticulum Elements Density of Calcium Release Units Decreased CASQ1-Immunopositive Inclusions Rare Necrotic Fibers Muscle Biopsy Shows Vacuoles Predominantly in Type 2 Fibers Upper and-or Lower Limbs May Be Affected Onset between 6 and 16 Years of Age Caused by Mutation in the Ceramide Synthase 1 Gene Mild Cerebellar and Brainstem Atrophy Heterozygotes Exhibit Blue Sclerae and Soft, Velvety Skin Accordion Like Broadened Appearance of Tubular Bones Multiple Fractures of Extremities - May Occur in Utero Fontanels Widely Open Soft Calvarial Bones Favorable Response to Anticholinesterase Medication Mutation in the Homolog of the S Cerevisiae ALG2 Gene Serum Transferrin Shows Normal or Mild Hypo-Glycosylation Distal Joint Laxity Tubular Aggregates Subsarcolemmal Accumulation of Normal Mitochondria Jitter Mild Learning Difficulties Percentages Based on 51 Published Cases (PMID 24891339) 10% due to Paternal Deletion 12% due to Epimutation Caused by Imprinting Defect on Chromosome 14q32 High-Pitched Nasal Speech Small Feet (96%)