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Variable Age of Onset of Parkinsonism Tau Immunreactivity Alpha-Synuclein-Immunoreactive Lewy Neurites Alpha Synuclein Immunreactive Lewy Bodies Loss of Dopaminergic Neurons in the Substantia Nigra L-Dopa-Responsive Parkinsonism If Untreated, Death Usually Occurs in Infancy or Childhood Villous Atrophy (Biopsy) Additional Features Vary Axonal Dystrophy Iron Deposition in the Basal Ganglia Contiguous Gene Duplication on Xq26.3 Mild Ventricular Hypertrophy Height Velocity Increased Tall Stature (+3-4 SD) IGF1 Levels Elevated Prominent Body Odor Sweating at Early Age Increased Respiratory Distress in Infancy Excess Skin around the Neck Mild Seizures Mutation in the MID2 Gene Mild, Non-Specific Facial Dysmorphism Hyperkeratotic Nails Acute and Chronic Dermal Inflammation Flexion Contractures of Hands due to Severe Hyperkeratosis Periorificial Hyperkeratotic Lesions Severe Palmoplantar Keratosis Hyperkeratotic Lesions of Posterior Neck Absence of Premolar Teeth Hyperkeratotic Plaque around Nostrils Corneal Vascularization Extending to Central Cornea Caused by Mutation in the High-Mobility Group Box 3 Gene Abnormal Serum Transferrin Pattern Females May be Unaffected or Mildly Affected Caused by Mutation in the Histone Deacetylase 8 Gene Nevus Flammeus Variable Extraneurologic Features Pigmentation Abnormalities Linear, Plaque-Like Scales Pointed Teeth Iron Deposition Long Birth Length Scant Iron Deposition in the Brain Spongy Gliosis Irregular Spikes and Slow Waves Psychomotor Arrest and Regression Caused by Mutation in the Histone Deacetylase 6 Gene Incomplete Penetrance in Females Motor Symptoms Are Variable Onset in Females Ranges from Third to Seventh Decade Onset in Males in First to Third Decade Caused by Mutation in the Ubiquilin 2 Gene Axonal Loss and Gliosis in the Corticospinal Tracts Neuronal Loss and Gliosis in the Cerebral Cortex Mutation in the DLG3 Gene Molar Hypoplasia Upslanting Palpebral Fissures Mutation in the GRIA3 Gene Phenotype May Be Exacerbated by Maltreatment in Childhood Mutation in the Monoamine Oxidase A Gene MAOA Products Decreased Urine Levels of MAO-A Substrates Increased Monoamine Oxidase A Activity Decreased Angry Outbursts Auto- and Hetero-Aggressive Behavior Mild to Severe Intellectual Disability Age at Onset Can Range from Infancy to Childhood Patient Cells Show Abnormal Mitochondrial Morphology Mild Frontotemporal Atrophy Seen on MRI Caused by Mutations in the BCL6 Corepressor Gene (BCOR) Pentalogy of Fallot Atresia of Ileum Absent Kidneys Hypoplastic or Absent Optic Chiasm Skin Wrinkling Improves with Age Mutation in the ATP6V0A2 Gene Recurrent Lower Respiratory Infection Frayed, Broken, and Shortened Elastic Fibers Generalized Skin Wrinkling Normal Isoelectric Focusing of Apolipoprotein CIII 'Dragonfly-Like' Pattern Mutation in the Chromosome 5 Open Reading Frame 42 Gene Notched Lip Abnormal Hair Growth Pattern Hypoplasia of Fifth Toes Bilateral Cutaneous Syndactyly of 2nd-4th Toes Bilateral Cutaneous Syndactyly of 3rd and 4th Fingers Serrated Incisors Pilar Dysplasia Cutaneous Laxity Hexadactyly Bone Anomalies Olfactory Bulb Agenesis Coloboma of Optic Nerve Lacrimal Duct Imperforation Deafness due to Bilateral Cochlear Malformation Fistula of Philtrum Multiple Intestinal Atresia Enterocyte Tufting