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Slow Functional Deterioration despite Severe MRI Findings Caused by Mutation in the MLC1 Gene (MLC1) Vacuolizing Myelinopathy Large Subcortical Cysts in Frontal and Temporal Lobes Distinct Disorder from Marinesco Sjogren Syndrome Prevalent in Bulgarian Gypsies Neuropathy Becomes Apparent in Childhood Bimaxillary Dentoalveolar Protrusion Thickening of Perioral Tissues Malar Hyperplasia Axonal Degeneration in Older Patients Nerve Biopsy Shows Hypomyelination Upper Limb Motor Neuropathy Occurs Later Motor Neuropathy Beginning in Lower Limbs Occurs in the Absence of Trauma A Subset of Patients Have Hearing Loss Facial Muscle Weakness of Muscles Innervated by CN VII Mutation in the KIF5A Gene Upper Limb Sensory Loss May Occur Later Upper Limb Weakness May Occur Later Mutations in the SLC4A4 Gene Red Cell Osmotic Resistance Increased Normal Distal Tubule Acid Excretion Bicarbonate Wasting Renal Tubular Acidosis Onset between Age 30-50 Years Mutations in the Ceruloplasmin Gene Ceruloplasmin Decreased or Absent Two Loci Described: EEC1 and EEC3 Heterogeneous Disorder Caused by Mutation in the Tumor Protein P63 Gene Sparse to Absent Axillary and Pubic Hair Fair Skin Absent Stensen Duct Lacrimal Duct Abnormalities Laterally Displaced Hair Whorl Vertically Inserted Eyelashes Long Flat Philtrum Overriding Scrotum Death Usually Occurs by 12 Months of Life Onset within First 3 Months of Life Ventilator Dependence with Inability to Wean Intrauterine Growth Retardation (Less Than 10th Percentile) Membranous Diaphragm Thin Diaphragm Eventration of the Right or Both Hemidiaphragms Excessive Sweating due to Autonomic Involvement Pain Perception Decreased Small Myelinated Fibers Axonal Degeneration (Nerve Biopsy) Slow Motor Nerve Conduction Velocity Upper Limb Weakness and Atrophy Occurs Later Childhood Onset Has Been Reported Adult Onset Reported Onset Usually in Early Adolescence Learning Disability (Early in Life) Knee and Ankle Clonus Loss of Ambulation within 10 Years of Onset Stiffness While Walking Onset of Insulin Resistance Possibly in Childhood Onset of Major Clinical Features in Young Adulthood Mutation in the PPARG Gene Prominent Musculature Facial and Neck Adipose Tissue Normal or Decreased Normal or Increased Abdominal Adipose Tissue Some Subcutaneous Adipose Tissue May Remain on Upper Arms Loss of Subcutaneous Adipose Tissue from Gluteal Region Normal Adipose Tissue around Neck Normal or Decreased Facial Adipose Tissue Increased Frequency in Finland Onset at 6-9 Months Normal in Neonatal Period Mutations in the SLC17A5 Gene Height 2 SD below Expected Height Mutation in the SCO2 Gene Muscle Biopsy Shows Decreased Activity of Cytochrome C Oxidase Limited Extraocular Movement No Hematuria Basement Membrane Altered Renal Tubular Cell Atrophy Corticomedullary Cysts Median Age at Onset of Renal Failure: 19 Years Onset of Acne in Adolescence - Persists Into Adulthood Onset of Arthritis in Early Childhood Sterile Abscesses at Site of Parenteral Injection Severe Cystic Acne Normocytic Pancytopenia Following Sulfa Use Onset in Third or Fourth Decades Thrombopoietin Increased Severe Thrombocytopenia (Birth) Normal Radii Caused by Mutation in the Set-Binding Factor-2 Gene Glaucoma May Precede Development of Neuropathy Early-Onset Open-Angle Glaucoma Abnormal Myelin-Folding: Globular Masses of Irregular Myelin Loss of Myelinated Fibers Onion Bulb Formations (Nerve Biopsy) Motor Nerve Conduction Velocity Decreased (15-30 m/s) CSF Protein Content Increased or at Upper Limit of Normal Severe Distal Sensory Impairment Life Expectancy Reduced