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Onset in the Second or Third Decade of Life Diminished or Undetectable Responses in ERG Peripheral Pigment Deposits Narrowed Vasculature Retinal Degeneration with Macular Involvement Central Vision Impaired Restricted Visual Fields Predisposition to UV Induced Malignancies Short Stature (3.8-5.2 SD) Death in First Months of Life Mutation in the TARS2 Gene Subsarcolemmal Lipofuscin-Positive Deposits Cerebral Spongiosis Hyperintense Lesions of the Globi Pallidi Caused by Mutation in the valyl-tRNA Synthetase 2 Gene Possibly Deficiency of Multiple Mitochondrial Respiratory Complexes White Matter Abnormalities in the Periventricular Regions Onset in Childhood or Adolescence in Most Patients Mild to Severe Mitral Regurgitation Mutation in the CHCHD10 Gene Combined Mitochondrial Respiratory Chain Deficiency Paracrystalline Inclusions Fragmented Mitochondrial Network Abnormal Mitochondria Morphology Lipid and Glycogen Accumulation Most Cases Are Responsive to Steroids No Dysmorphic Features Mutation in the Ribosomal Protein S29 Gene Risk of Cancer Possibly Increased Upslanting Toenails Deep Skin Creases in Toes Cellulitis Over Affected Area Fibrosis Over Affected Area Papillomatosis over Affected Area Hyperkeratosis Over Affected Area Evidence of Lymphatic Rerouting Tortuous Lymphatic Tracts Lymphoscintigraphy Shows Impaired Lymphatic Uptake and Drainage Prominent Veins - Lower Limbs Severity and Frequency of Seizures Improve with Age Poorly Responsive Seizures Onset in the First Hours or Days of Life Mutation in the SLC13A5 Gene Lack of Speech Acquisition Amylopectinosis (Biopsy) Hyper IgA Polyglucosan Accumulation Ambulation Due to Muscle Weakness Impaired Earlier Onset May Occur Onset Usually in Young Adulthood Caused by Mutation in the Alanyl-tRNA Synthetase 2 Gene Isolated Mitochondrial Complex IV Deficiency Seen on Biopsy Deep White Matter Changes Loss of Motor Skills Delayed Development in Early Childhood Mutation in the RASGRP2 Gene Impaired Platelet Aggregation and Spreading Mucocutaneous Bleeding due to Platelet Dysfunction Premature Loss of Enamel Normal Enamel Volume Discolored Enamel (Yellow Brown) Caused by Mutation in the Ribosomal Protein L21 Gene Hair Follicles Significantly Decreased in Number and Size Thin Hair Shafts without other Characteristic Features Axillary and Pubic Hair Sparse or Absent Sparse or Absent Body Hair Sparse or Absent Eyebrows and Eyelashes Beard Hair Unaffected No Hair Regrowth Thin Fragile and Dry Hair Slow-Growing Hair of Normal Length Progressive Hair Loss from 2-6 Months of Age Normal Scalp Hair Density at Birth Normal Beard Hair Aggregates Contain Granular Electron Dense Material Tubular Aggregates Mainly in Type 1 Fibers Atrophic Muscle Fibers Abnormal Fiber Size Variation (Muscle Biopsy) All Reported Cases Result from De Novo Mutation Mutation in the DNMT3A Gene Heavy, Horizontal Eyebrows Tall Stature (3 SD) Intellectual Disability Mild to Moderate Mutation in the Tight Junction Protein 2 Gene Gamma-Glutamyltransferase Normal or Mildly Increased Mutation in the ADNP Gene Caused by Mutation in the Cyclin O Gene Deterioration of Lung Function Numbers of Motile Cilia in Respiratory Epithelial Cells Decreased Seizures Tend to Become More Focal with Age Mutation in the HCN1 Gene One Patient Died at 17 Months of Age Mutation in the DGAT1 Gene Total Cholesterol Elevated - Seen in Heterozygotes As Well Parenteral Nutritional Support Required Patchy Areas of Villous Atrophy Patchy Areas of Dystrophic Microvilli in Duodenum Congenital Watery Diarrhea Failure to Thrive Secondary to Congenital Diarrhea Intellectual Disability and/or Hydrocephalus (50%)