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Severely Wasted Build Flat Thin Pectus Bladder Enlarged Recurrent Cystitis Recurrent Large Subcutaneous Hematomas Mildly Enlarged Ventricles Caused by Mutation in the LIM Domain Binding Protein 3 Gene Left Ventricular Non-Compaction Left Ventricular Dilation Abnormal Bone Marrow Karyotype Onset: Childhood to Adult Audiogram May Be Ascending Mutation in the SLC26A2 Gene Mutation in the Ankyrin 2 Gene Absent Delayed Hypersensitivity Skin Test Numbers of Natural Killer Cells Markedly Reduced Intrinsic B Cell Defect Increased Proportion of CD19+ B Cells Markedly Reduced CD3+ Proportion Undetectable or Absent Peripheral Lymph Nodes Complex Congenital Heart Defect Metatarsal Synostoses (2-5) Brachymetatarsy Rays 3-5 Dysfunctional Ankle Joints Metacarpal Synostosis (2-5) Brachymetacarpy (Rays 3-5) Mild Vertebral Anomalies Limited Range of Joints Motion Hypoplasia of the Soft Palate Short Umbilical Cord with Unusually Long Skin Coverage Familial Enteropathy Highly Variable Phenotype That Includes Several Subtypes No Leukocyte Inclusions on Giemsa Staining Mutation in the WD Repeat Containing Protein 62 Relative Preservation of the Cerebellum Abnormal Gyral Pattern Small Brain Deformities of Metatarsal Bones Partial Duplication of mtDNA Episodic Cold-Triggered Erythrocyanosis of Toes and Fingers Heteroplasmic Partial Duplication of mtDNA Urinary Loss of Potassium, Sodium, Calcium and Chloride Frequently Death in Infancy Deletion of mtDNA Vacuolization of Bone Marrow Precursors Plasma Ketone Body or Lactate : Pyruvate Ratios Increased Mitochondrial Deletions 3-Methylglutaconicaciduria Exocrine Pancreatic Dysfunction Mutation in the MTND6 Gene Mutation in the Mitochondrial Transfer RNA Serine 2 Gene Mutation in the MTTH Gene EM Shows Subsarcolemmal Pleomorphic Mitochondria Resting and Exercise-Induced Lactate Increased Ragged Red Fibers on Muscle Biopsy Episodic Sudden Headache Caused by Deletion of Multiple Genes in the Mitochondrial DNA Cerebrospinal Fluid Protein Increased > 100 mg dl<sup>-1</sup> Ragged Red Fibers (Muscle Biopsy) Normal Cognition Caused by Mutation in the Sedlin Gene Mutation in the Retinoschisin Gene Significantly Decreased Axial Length About 8% of Female Mutation Carriers Develop Dilated Cardiomyopathy Mild Muscle Weakness in 20% of Female Mutation Carriers Mild Dwarfism Esophageal Leiomyomatosis Genital Leiomyomatosis Allelic Disorder to IFAP Syndrome Mutation in the MBTPS2 Gene Dry Bumpy Skin Mental Retardation, Spasticity and Adducted Thumbs in Survivors Mutation in the L1 Cell Adhesion Molecule Gene Mutation in the FGD1 Gene Mild to Moderate Growth Deficiency Color Vision Defects Not in All Cases Retinal Pigment Abnormalities Electroretinographic Flicker Reduced Refractive Error - Usually Combined Hyperopic Astigmatism Stereopsis Decreased to Absent Null Point Shifts Every Few Seconds to Minutes Adult Onset May Also Occur Mutation in the ATPase, Cu++ Transporting, Alpha Polypeptide Mild Distal Sensory Impairment Survival to Advanced Age Usually Onset in 3rd or 4th Decade of Life Caused by Mutation in the Dystrophin Gene Muscle Biopsy Shows Abnormal Dystrophin Speech Delay Mutation in the RAB39B Gene Some Female Carriers Are More Mildly Affected Early Death in Males Mutation in the X-Linked Aristaless-Related Homeobox Gene Pinched Nasal Alae Thin Optic Nerves Underdeveloped Scrotal Folds Gliosis of the White Matter Dysplastic Basal Ganglia Moderately Thickened Cortex Anterior Pachygyria and Posterior Agyria