Presentation
Entire Body System
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Anemia
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome Cushing Syndrome Cutis Laxa-Marfanoid Syndrome Cutis Verticis Gyrata and Mental Deficiency Cyprus Facial Neuromusculoskeletal Syndrome Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia [rgd.mcw.edu]
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Lymphedema
[…] syndrome Lowry Wood Syndrome Lubani Al Saleh Teebi Syndrome Lubinsky Syndrome Lubs Syndrome Lujan Fryns Syndrome LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME Luscan-Lumish syndrome Lutembacher's syndrome Lutz Richner Landolt Syndrome Lymphedema [rgd.mcw.edu]
Respiratoric
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Hypoventilation
[…] non-syndromic intellectual disability Nonkeratan-Sulfate-Excreting Morquio Syndrome nonprogressive cerebellar ataxia with mental retardation Noonan Like Syndrome Noonan syndrome Norman-Roberts syndrome Novak Syndrome O'Donnell Pappas Syndrome Obesity Hypoventilation [rgd.mcw.edu]
Neurologic
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High Pain Threshold
PAIN THRESHOLD INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES INTELLECTUAL [rgd.mcw.edu]
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Gerstmann Syndrome
syndrome Ghose Sachdev Kumar Syndrome Giacheti Syndrome Gilles de la Tourette syndrome Gillespie Syndrome Gingival Fibromatosis with Hypertrichosis and Mental Retardation Gitelman syndrome GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM [rgd.mcw.edu]
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Spastic Quadriplegia
Quadriplegia, and Mental Retardation Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin Iida Kannari Syndrome Iliotibial Band Syndrome IMAGe syndrome immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [rgd.mcw.edu]