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Methylmalonic Acidemia
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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