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Cerebrospinal Fluid Pyridoxal Decreased Cerebrospinal Fluid Arginine Decreased Cerebrospinal Fluid Histidine Increased Cerebrospinal Fluid Taurine Increased Increased CSF Threonine Cerebrospinal Fluid 3-Methoxytyrosine Increased Urine Vanillactic Acid Increased Plasma Arginine Decreased Plasma Threonine Normal to Increased Plasma Glycine Normal to Increased Response to Pyridoxal Phosphate Partial Response to Pyridoxine Neonatal Epileptic Encephalopathy Thick, Maloriented Superior Cerebellar Peduncles Mutation in the CEP290 Gene No Cerebellar Vermis Aplasia or Hypoplasia Anomalous Origin of Right Pulmonary Artery Diabetes Mellitus Type 1 Developed in Some Patients 2:1 Female Preponderance Adult Onset Punctate Cortical Cataract Congenital Cataract (Nuclear, Sutural, or Stellate Cortical) Phenotype May or May Not Be Consistent within a Family Mutation in the Fukutin Gene Homozygosity: More Severe Phenotype Autosomal Recessive Inheritance Can Occur One Third of Cases Are Familial Benign Tumors of the Eye, Heart, and Lungs Cortical Tubers Subependymal Nodules Hamartomatous Lesions of the Brain Short, Dysplastic Ulnae Short Dysplastic Radii Severe Radial Bowing Severe Mesomelia - Only Arms Aberrant Origin of Vertebral Artery Rudimentary to Absent Tibia Irregular, Thin Ribs Single Fallopian Tube Mutation in the Ras Associated Protein RAB23 Gene Fingerprint Profiles (Ultrastructural Analysis) Caused by Mutation in the CLN2 Gene Mutation in the R Spondin Family Member 4 Gene Onset in Neonatal Period or Infancy Possibly Phosphate and Calcitriol Increased (Heterozygotes) Mutation in the GALNT3 Gene Renal Tubular Phosphate Reabsorption Increased FGF23 Increased 1,25-Dihydroxycholecalciferol - Calcitriol - Normal to Elevated Progressive Deposition of Basic Calcium Phosphate Crystals Ectopic Painful Periarticular Calcified Masses Swirled Radicular Dentin Deposits Short Blunt Tooth Roots Disturbed Root Development Obliterated Tooth Pulp Cavities Conjunctival Whitish Salt-Like Deposits Calcinosis of the Renal Parenchyma Renal Tubular Phosphate Excretion Decreased Profound Sensorineural Deafness Environmental Triggers - Cold and Wet Exposure No Raynaud Phenomenon Subungual Lesions No Cutaneous Photosensitivity Healed Areas Are Atrophic and Hypopigmented Painful Bluish-Red Papules or Nodules Present in Jewish Yemenite Population Mutation in the Sterile Alpha Motif Domain Containing Protein 9 Gene Massive Calcium Deposition in Mid and Lower Dermis Calcified, Ulcerating Nodules Erythematous Papular Skin Eruption Myelosuppression Develops on Standard Doses of Thiopurine Drugs Decreased Metabolism of Thiopurine Drugs Activity of Thiopurine-S-Methyltransferase Decreased Mutation in the Phosphodiesterase 11A Gene Fibrofatty Replacement of Right Ventricular Myocardium Possibly Mild Manifestations of Cushing Syndrome Onset in Childhood or Young Adulthood Mutation in the PRKAR1A Gene Adrenal Glands Normal, Atrophic, or Slightly Enlarged ACTH-Independent Hypercortisolemia Mutation in the Mitochondrial Ribosomal Protein S16 Choreoretinal Coloboma Abnormal Toenails Slender Ulnae Pouty Lower Lip Height Less than 5th Percentile Overriding of the First Toe EMG Shows Denervation Progressive Distal and Proximal Symmetric Limb Weakness Protruding Fissured Tongue Hallucinatory Psychosis Develops during Adolescence Motor and Sensory Nerve Conduction Velocities Decreased Hypomyelinated Fibers Axon Degeneration and Regeneration Sural Nerve Biopsy Shows Absence of Large Myelinated Fibers Severe Peripheral Sensory Neuropathy Severe Peripheral Motor Neuropathy Axonal Swelling of Spinal Nerve Roots and Cranial Nerves Support Standing or Walking Ability by 4-6 Years of Age Variable Expressivity, Patients Possibly Clinically Asymptomatic Cortisol Does Not Decrease on Dexamethasone Suppression Test