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Coarse Face Prolonged Bleeding after Trauma or Surgery Thrombopoietin Elevated Morbidity and Mortality in Affected Males Increased Trapezoidal Shaped Skull Occipital Bossing Widened Suture Broad, Flat Ribs Death within first Year of Life Low Absolute Lymphocyte Count Lymph Nodes Are Small and Poorly Developed T Lymphocytes Absent Natural Killer Cells - Reduced Numbers and Cytotoxicity Specific Antibody Production Severely Decreased Unilateral Chest Hypoplasia Mutation in the Rho Guanine Nucleotide Exchange Factor 6 Gene Less Severe Phenotype in Females Urine 2-Methyl-3-Hydroxybutyrate Increased Activity of 2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase Decreased Inverted-V-Shaped Mouth Mild Truncal Obesity Mutation in the Immunoglobulin Binding Protein 1 Gene Cup Ear Caused by Mutation in the Oligophrenin 1 Gene Long, Tubular Nose Marked Infraorbital Creases Upturned Philtrum Cerebral Volume Decreased, Especially of the Frontal Lobes Retrocerebellar Cysts Mild Mental Retardation in Most Female Carriers Affected Individuals Remain Ambulatory in Old Age Peripheral Nerve Biopsy Normal Muscle Biopsy Shows Neurogenic Changes Lower Limbs Affected before Upper Limbs Caused by Mutation in the Synapsin 1 Gene Associated with Mutation in the Neuroligin 3 Gene No Peripheral Signs of Hypothyroidism Mutation in the MCT8 Gene RT3 Decreased Triiodothyronine Increased Thyroid-Stimulating Hormone Normal or Mildly Increased Thyroxine Decreased Joint Contractures (Small and Large Joints) Flattened Antihelix Prominent Antihelices Pinna Modeling Anomalies Broad Shallow Pectus Excavatum Lack of Communication No Gaze Contact Inability to Communicate Dystonic Posturing of the Hands Neck Drop Inability to Hold Neck up - Onset at 6 Months Hypotonia Proximal Severe Features in Addition to Mental Retardation Are Variable Abundant Body Hair Short Thick Distal Phalanges Small, Deep-Set Eyes Small Eyelashes Raised Earlobes Pyramidal Syndrome of the Lower Limbs Hypertonia (in Lower Limbs) Slowly Progressive Spastic Paraplegia Caused by Constitutive Activation of the AVPR2 Receptor Normal Neonatal Course Mutation in the AVPR2 Gene Antidiuretic Hormone Not Detectable Euvolemia Aldosterone Normal Creatinine Mildly Decreased Inappropriately Increased Urine Osmolality Appropriately Increased Serum 1,25-Dihydroxyvitamin D3 Renal Phosphate Wasting Caused by Mutation in the p21-Activated Kinase 3 Gene Relatively Long Ears Some Patients Can Hold Menial Jobs Some Patients Attend Special School Most Patients Have Adult Onset of Symptoms Exercise-Induced Myoglobinuria Muscle-Specific Phosphorylase Kinase Activity Decreased Muscle Biopsy Shows Mitochondrial Paracrystalline Inclusions Frontal Bone Hypoplasia Night Blindness in Some Female Carriers Possibly Decreased Visual Acuity in Female Carriers Severe Early-Onset Retinitis Pigmentosa Normal Intelligence in Carrier Females Lung Hypoplasia at Birth Severe Respiratory Muscle Weakness Respiratory Distress due to Muscle Weakness - Often Fatal Muscle Biopsy Shows No Dystrophic Changes Type 1 Fibers Are at Least 12% Smaller than Type 2 Fibers Muscle Biopsy Shows Fiber Type Disproportion Relatively Preserved Limb Strength Generalized Neonatal Hypotonia Horizontal Smile Microdontia (Maxillary Lateral Incisors) Repeat Is Unstable if > 52 Repeats Mutation in the FMR1 Gene Allelic to Carpenter-Waziri Syndrome (without Alpha-Thalassemia) Mild Form of Hemoglobin H Disease