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Short Wide Flat Thorax Open Posterior Fontanelle Severe Growth Retardation if Untreated Non-Goitrous Hypothyroidism Genetic Heterogeneity - See SPG5A for Overview of Recessive SPGs Other Tumors May Also Occur Caused by Mutation in the Homolog of the E Coli mutS 2 Gene Mutation in the Homolog of the E Coli MutL1 Gene Functional Ovaries Aplastic Fallopian Tubes Congenital Absence or Severe Hypoplasia of Uterus Dysgenesis of Mullerian Duct Derivatives Aplasia of Mullerian Duct Derivatives Normal External Genitalia Normal Female Secondary Sexual Characteristics Mutation in the LMBR1 Domain Containing Protein 1 Gene Distal Atrophy of the Legs Macroorchidism Mood Instability Possibly Somatic or Germline Mosaicism Highly Variable Phenotype in Females Mutation in the Doublecortin Gene Limb Spasticity Seizures Often Associated with Fever Intellectual Disability Is Variable Controlling and Inflexible Traits in Male Carriers Obsessive Features in Male Carriers Carrier Males Show Rigid Personality Obsessive Features Normal Development in Some Patients Developmental Regression in about 50% of Patients Possibly Developmental Delay from Birth Phenotypic Similarities to Angelman Syndrome Pointed Jaw Low Weight (Third Percentile) Easily Provoked Laughter Widespread Neuronal Loss Pronounced Overaction of the Frontalis Muscle Absent Upper Lid Skin Crease Allelic to Rett Syndrome Loss of Purposeful Hand Movements Stereotypic Hand Movements Caused by Mutation in the Creatine Transporter Gene Urine Creatine : Creatinine Ratio Increased Mutation in the CUL4B Gene Speech Impaired or Absent Wide Sandal Gap Short Stature - 5th Percentile Mutation in the JARID1C Gene Attentional and Executive Function Impaired Impaired Visuospatial Perception Schizophrenia-Like Symptoms Posterior Slow-Wave Activity Mutation in the ARHGEF9 Gene Seizures Are Poorly Controlled Seizures Provoked by Tactile Stimulation or Extreme Emotion Tonic Hyperekplectic Seizures Defect in Oxidative Phosphorylation Malar Flatness Bifrontal Narrowness Generalized Severe Growth Retardation Weight for Age Decreased Recurrent Mycobacterial Disease (BCG and M. Tuberculosis) Partially Responsive to Laser Treatment Mildly Dystrophic Nails Usually No Inflammation Palms Soles and Oral Mucosa Are Not Involved Extensive Cutaneous Involvement Rarely Occurs Lesions Occur on the Trunk, Back, Arms, Legs, Abdomen, Buttocks Lesions Often Follow Blaschko Lines Subepidermal Capillary Ectasia Non-Purpuric Punctate and Linear Erythematous Rash Benign Esophageal Papillomas Heterozygous Females May Exhibit Variable Degrees of Enzyme Deficiency Caused by Mutation in the Phosphoglycerate Kinase 1 Gene Hemolytic Anemia in about 60% of Patients Activity of Phosphoglycerate Kinase 1 Decreased Myopathy in Approximately 45% of Patients Possibly Renal Failure with Myoglobinuria Central Nervous System Involvement in Approximately 50% of Patients MECP2 Mutations Are Those Found in Females with Rett Syndrome Death Usually within First 2 Years of Life Mutation in the MECP2 Gene Dyskinetic Movements Severe Neonatal Encephalopathy Mutation in the Four-and-a-Half-LIM Domains Protein 1 Gene Arrhythmias May Occur Arm Weakness Progressive Muscle Wasting Muscle Atrophy Later in the Disease Patients Achieve Ambulation Symptoms Tend to Improve with Age See Also Later Childhood Onset Form Death in Childhood is Frequent due to Respiratory Failure Loss of Antigravity Strength See also Severe Early-Onset Form Female Carriers Possibly Less Severely Affected Cervical Hyperextension Spinal Mobility Decreased Inclusions Stain Positively with Nitroblue Tetrazolium