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Plasma Phospholipids Increased Plasma Free Cholesterol Increased Plasma HDL Decreased ApoA-I and ApoA-II Decreased Plasma Esterified Cholesterol Decreased Death Often in Early Infancy Postprandial Hyperglycemias Anti-Insulin Receptor Antibodies Absent Plasma Insulin Elevated Marked Lack of Adipose Tissue Juvenile Ovarian Granulosa Cell Tumor Severe Failure to Thrive Death Often before Age 2 Cytogenetic Deletion of Chromosome 17p13.3 Upturned Nares Bitemporal Hollowing Failure of Opercularization of the Frontal and Temporal Lobes on CT Progressive Spastic Paraplegia Late Hypertonia Hypertrichosis (Face and Forehead) Carrying Angle Increased Mutations in the SLURP1 Gene Fragile Lustreless Nails Lichenoid Plaques Transgressive Keratosis Perioral Erythema Symptoms May Be Precipitated by Infection Abnormal Urine Composition Caused by Mutation in the Lamin A-C Gene Sparse Lusterless Scalp Hair Partial Alopecia Soft Tissue Calcinosis Skin Atrophy (Especially over Hands and Feet) Fingertip Rounding Truncal Adipose Tissue Normal or Increased No Papillae on Tongue Beak Nose Aberrant Anterolateral Scalp Hairline Extreme Microphthalmia Oculopalpebral Synechia Wide Phenotypic Variability Caused by Mutation in the Alpha-Mannosidase Gene Anterior Hair Whorl Urine Mannose-Containing Oligosaccharides Increased Abnormal Vertebral Bodies (Ovoid, Flat, Beaked) Nystagmus in Adult Patients Impaired Smooth Pursuit in Adult Patients Progressive Retinal Degeneration in Adults Lenticular Spoke-Like Opacities Growth Retardation in Severe Cases Thick Undertubulated Ribs White Matter Changes May Occur Neurologic Symptoms Are Progressive Spinocerebellar Tract Disease in Lower Limbs Mental Retardation from Rapid Mental Regression Urine Disaccharides like Mannosyl N-Acetylglucosamine Increased Thenar Amyotrophy Possibly Mild Facial Dysmorphism Progressive Demyelinating Peripheral Neuropathy Lactic Acidosis in E3 Deficiency Death in Untreated Children Mutation in the Dihydrolipoamide Dehydrogenase Gene Mutation in the Dihydrolipoamide Branched Chain Transacylase Gene Positive Urine DNPH Screening Test Plasma Alloisoleucine Elevated Duodenal Bands Microcystic Kidney Hypoplasia of the Inferior Cerebellar Vermis Absence of Primitive Reflexes Prenatal Diagnosis by Ultrasound Mutation in the MKS1 Gene Cleft Epiglottis Potter-Like Facies Variable Prenatal Growth Deficiency Bladder Hypoplasia Optic Tract Agenesis Attack Frequency: Once/Year to Several/Week Acute Attacks Lasting 24 to 48 Hours Caused by Mutations in the Pyrin Gene Prominent Leukocytosis (30,000/ml) Tunica Vaginalis Inflammation Pes Planus Valgus Shortened Radii and Ulnae Microsclerocornea Majority of Cases Have Been Sporadic Overriding 3rd Toes Cuboid-Shaped Thoracolumbar Vertebral Bodies Irregular Ridges on Incisors Light Blue Irides Long, Curly Eyelashes Calyceal Dilation Shortened Tibia Mesomelic Dwarfism Juvenile Onset - 4 Years to Puberty Late Infantile Onset: 6-24 Months Mutation in the ARSA Gene Increased Urinary Sulfatide Excretion Disorganized Thinking Progression to Tetraplegia and Decerebrate State Hyperreflexia (Late Symptom)