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'Whistling' Appearance H- or V-Shaped Chin Dimple Urine Copper High Non-Ceruloplasmin-Bound Copper High Liver Copper High Mixed Demyelinating and Axonal Polyneuropathy Atlantoaxial Subluxation Xanthine Urolithiasis Light Fine Hair Migratory Ichthyosiform Dermatosis Broad Second Toes Thickened Soles Clinodactyly and/or Camptodactyly of 5th Finger Thickened Palms Flattened Occiput Bifid Incisor Birth Length > 90th Percentile Mutations in the MID1 Gene Nasal Tip Groove Often Confused with Tuberous Sclerosis (191000) Prenatal or Perinatal Lethality in Hemizygous Males Caused by Mutation in the Filamin A Gene Strokes due to Coagulopathy Refractory Seizures Mutation in the AR Gene Luxuriant Scalp Hair Plasma Follicle Stimulating Hormone Elevated Plasma Luteinizing Hormone Elevated Plasma Testosterone Normal-Elevated Normal Male Karyotype (46,XY) Female Body Fat Distribution Female Body Habitus Tall for Females (Mean Height 171-5 cm) Blind Vagina Abdominal, Inguinal or Labial Testes Hypoplasia or Normal Development of Clitoris Underdeveloped Labia Female External Genitalia in Males Proximal, Slowly Progressive Muscle Weakness Dwarfism Not Detectable at Birth Pectus Carinatum Present in Obligate Carrier Mothers Short Broad Metacarpals and Phalanges Cone-Shaped Epiphyses of Distal Radii Underossified Epiphyses Prominent Ulnar Styloid Process Disproportionately Long Fibulae Long Ulna Short Broad Long Bone Diaphyses Moderate Limitation of Elbow Extension Hypoplastic Iliac Bone Narrow Pelvis Wedge-Shaped 11th or 12th Thoracic Vertebrae Anterior Vertebral Tongue Mild Odontoid Hypoplasia Mild Maxillary Hypoplasia Severe Short-Trunked Dwarfism Mutation in the IL1RAPL Gene Finger Twitching Mean Age of Onset 35-40 Years Striatal Atrophy Rare Segmental Demyelination and Remyelination Rapid Disease Progression at Age 40-50 Years Onset in Second Decade 'Onion Bulb' Formations Aortic Aneurysms (Ascending Aorta or Aortic Arch) Moya-Moya Phenomenon Supraumbilical Abdominal Raphe Sternal Pits Sternal Clefting Cerebral Infarction Dandy Walker Malformation Migraine Headaches Ipsilateral to Facial Hemangioma Homozygous 122 kb Deletion 11p15-p14 Generalized Aminoaciduria Age of Onset 30 to 60 Years Inability to Suppress Vestibuloocular Reflex Response to Acetazolamide Mutation in the HSPB1 Gene Chronic Axonal Neuropathy (Sural Nerve Biopsy) White Matter Abnormalities on MRI Most Patients Remain Ambulatory Very Slow Progression Inborn Error of the Pyrimidine Degradation Pathway Caused by Mutation in the Beta-Ureidopropionase Gene Plasma, CSF and Urinary Dihydrothymine Increased Plasma, Liquor and Urine Dihydrouracil Increased Urine Dihydropyrimidines Increased Severe Psychomotor Development Delay Mean Duration of Symptoms: 4.2±2.4 Years Mutations in the Prion Protein Gene PrP-Immunoreactivity Limited to Cerebellum and Putamen Minimal Gliosis No Neurofibrillary Tangles No Amyloid Plaques Rapidly Progressive Dementia Rapidly Progressive - 6 to 24 Months Average Age of Onset 13 Years Caused by Mutation in the ATPase Type 13A2 Gene Atrophy of Pyramids Mild Paraparesis Movements Worsened by Anxiety