Conditions
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- Methylmalonic Acidemia
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Conditions
- 22q11.2 deletion
- Abdominal Wall Defects
- Achondroplasia
- Apert Syndrome
- Becker Muscular Dystrophy
- Cartilage-hair hypoplasia
- CHARGE syndrome
- Cleft Lip/Cleft Palate
- Craniosynostosis
- Crouzon Syndrome
- Cystic Fibrosis
- Diastrophic Dysplasia
- Down Syndrome
- Duchenne Muscular Dystrophy
- Ehlers-Danlos syndrome
- Familial Combined Hyperlipidemia
- Familial Hypercholesterolemia
- Familial hyperlipoprotein(a)
- Familial Hypertriglyceridemia
- Familial Hypoalphalipoproteinemia
- Fragile X Syndrome
- Goldenhar Syndrome
- Hereditary Hemochromatosis
- Homocystinuria
- Klinefelter Syndrome
- Marfan syndrome
- Methylmalonic Acidemia
- Morquio Syndrome
- Myotonic Dystrophy, Type 1
- Neural Tube Defects
- Neurofibromatosis 1
- Neurofibromatosis 2
- Oculo-auricular-vertebral spectrum
- Pfeiffer Syndrome
- Pierre Robin Sequence
- Schwannomatosis
- Smith-Lemli-Opitz Syndrome
- Spina Bifida
- Spondyloepiphyseal Dysplasia
- Test Condition
- Treacher Collins Syndrome
- Trisomy 13
- Trisomy 18
- Trisomy X (Triple X syndrome)
- Turner Syndrome
- X-Linked Ichthyosis
- XYY Syndrome
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