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Absence or Hypoplasia of the Anterior Limb of the Internal Capsule Pachygyria (Posterior to Anterior Gradient) Mutation in the Sonic Hedgehog Gene Recurrent Respiratory Infections due to Impaired Ciliary Motility Axonemes Show Normal Structure Cilia Show Nonflexible and Hyperkinetic Beating of Axonemes Male Fertility Remains Intact Monthly to Yearly Episodes, Frequency Decreases with Age Symptoms Precipitated by Exercise and Excitement Normal Interictal Neurologic Examination Intermittent Aminoaciduria Mild Methylglutaconic Aciduria Dark Pigmentation of Knees and Dorsum of Hands and Feet Hyperkeratosis, Particularly on Palms and Soles Loose Skin at Birth Frontal Polymicrogyria IGF-1 and IGFBP-3 Decreased Response to Diphenhydramine Positive Skin-Test Reaction to Seminal Fluid Labial Urticaria Stinging, Burning Vaginal Pain during or after Coitus Clinical Variability Seen in Waardenburg Syndrome Type 1 Mutation in the PAX3 Gene Nasal Bone Length Decreased Lower Lacrimal Dystopia Intercanthal Distance Increased Laterally Displaced Inner Canthi - Dystopia Canthorum Philtrum Length Decreased Absent Vagina Mutation in the Microphthalmia-Associated Transcription Factor Gene Friendly Personality Poor Visual Spatial Construction Reddish Hair Bright Copper Red Hair in Darker-Skinned Individuals Mild Hypopigmentation Freckled Skin Bright Copper-Red Coloration of Skin (in Darker Skinned Individuals) Tyrosinase Normal Dilution of Color of Iris Retinal Pigment Present Red Reflex on Transillumination of the Iris Premature Heart Disease Distal Loss of Facial Hair Deficient Efflux of Intracellular Cholesterol Accumulation of Cholesterol Esters in Various Tissues Apolipoprotein A-1 Decreased or Absent Enlarged, Yellow-Orange Tonsils Facial Diplegia due to Peripheral Neuropathy Pain and Temperature Sensation Loss Syringomyelia-Like Syndrome Mutation in the Glutaredoxin 5 Gene Ringed Sideroblasts on Bone Marrow Aspirate Anemia - Not Responsive to Pyridoxine Supplementation Increased Risk of Early Death Risk of Thrombosis Increased Arterial Vessels Show Fragmentation of the Internal Elastic Membrane Arteries Elongated - Large and Medium-Sized Arteries Including Aorta Arterial Tortuosity (Large and Medium-Sized Arteries, Including Aorta) Bruisability Not Increased Bowel Necrosis due to Thrombosis Right Ventricular Hypertrophy (Reported in 2 Sibs) Structural Cardiac Defects Severe Bleeding after Biopsies Fractures at Birth B and T-Cell Defects (Reported in 2 Sibs) Recurrent Febrile Illnesses Portal Tract Fibrosis Pigmentary Deposits Bile Duct Abnormalities Chronic Vaginal Candidiasis Acute Hypoketotic Hypoglycemic Episodes Responsive to Carnitine Supplementation Onset in Infancy of Acute Hypoglycemic Episodes Mutation in the Solute Carrier Family 22 Member 5 Gene Fatty Infiltration of Heart Muscle No Ketosis Carnitine in Serum, Muscle, Heart, and Liver Decreased Urine Carnitine Increased Muscle Biopsy: Lipid Deposition Delay in Gross Motor Development due to Weakness Hypoglycemia-Associated Encephalopathy Lethargy Associated with Hypoglycemia Mutation in the Myosin Va Gene Mostly Sporadic, Rarely Somatic and Germline Mosaicism Bifid Femur Ulnar Hypoplasia Hypoplastic Semicircular Canals Chewing and Swallowing Difficulties Intellectual Function May Be High in Milder Cases Characteristic Facial Features Become More Apparent with Age Small Lungs Elastic Fibers Degenerated Thin or Fragmented Elastic Fibers Number of Elastic Fibers Reduced Prominent Superficial Blood Vessels due to Thin Skin Thin Translucent Skin Skin Abnormalities Tend to Decrease with Age Sparse Brittle Hair Amount of Elastin Decreased Abnormal Broken Shortened Elastic Fibers