What Is Smith-Lemli-Opitz Syndrome?
Source: Genetic and Rare Diseases (GARD) Information Center
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Smith-Lemli-Opitz Syndrome
SLO syndrome; Smith Lemli Opitz syndrome; 7-Dehydrocholesterol reductase deficiency; RSH syndrome; SLOS; Rutledge lethal multiple congenital anomaly syndrome
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.
7-Dehydrocholesterol
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Feets with partial simple syndactyly
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Source: Genetic and Rare Diseases (GARD) Information Center
Microcephaly
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Source: Genetic and Rare Diseases (GARD) Information Center
Missense Mutation
Image by National Human Genome Research Institute (NHGRI)
Source: Genetic and Rare Diseases (GARD) Information Center
autosomal recessive pattern of inheritance
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Source: Genetic and Rare Diseases (GARD) Information Center
Genetic testing
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Source: Genetic and Rare Diseases (GARD) Information Center
Genetic Testing
Also called: DNA Testing, Mutation Screening, Genetic Test
Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
Prenatal Genetic Screening
Also called: Prenatal DNA Testing, Carrier Screening for Genetic Disorders
Genetic tests look at the genetic information, called DNA, carried inside a person’s cells. When genetic screening is done for a baby’s parents, it can determine if either or both of the parents carry genes for a disease or disorder that can be passed on to their child.
Total Cholesterol Rotation (HDL, LDL, and VLDL Molecules)
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Source: Genetic and Rare Diseases (GARD) Information Center
Treatment and Prognosis varies depending on the type of condition and the age of symptom onset.
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Source: Genetic and Rare Diseases (GARD) Information Center
Populations - How Common
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Source: Genetic and Rare Diseases (GARD) Information Center
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