Table III.
Genetic Condition Attribute Scores, by Taxonomy Category (n = 739 ratings)
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|---|---|---|---|---|---|---|---|---|---|
| Controllable | Predictable | Visible | Severe | ||||||
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| M | SD | M | SD | M | SD | M | SD | ||
| Shortened lifespan | Spinal muscular atrophy | 1.76 | 1.84 | 5.21 | 1.56 | 6.47 | 1.36 | 6.71 | 1.34 |
| Tay-Sachs disease (acute infantile form) | 1.89 | 1.41 | 5.97 | 1.32 | 6.35 | 0.64 | 6.68 | 0.82 | |
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| Serious medical problems | Cohen syndrome | 3.73 | 1.26 | 4.78 | 1.07 | 6.22 | 0.82 | 5.05 | 1.06 |
| Bloom syndrome | 4.39 | 1.49 | 4.68 | 1.28 | 6.32 | 1.19 | 6.13 | 1.13 | |
| Duchenne muscular dystrophy | 2.72 | 1.60 | 4.79 | 1.71 | 6.18 | 1.48 | 6.41 | 1.01 | |
| Usher syndrome type 1F | 2.94 | 1.70 | 5.11 | 1.19 | 5.60 | 0.70 | 5.17 | 0.81 | |
| Phenylketonuria | 5.12 | 1.75 | 4.85 | 1.18 | 5.38 | 1.03 | 6.12 | 1.25 | |
| Wilson disease | 5.92 | 1.03 | 4.89 | 1.47 | 4.53 | 1.30 | 4.58 | 1.05 | |
| Galactosemia | 5.76 | 1.07 | 5.21 | 1.09 | 4.59 | 1.40 | 5.06 | 1.25 | |
| Cystic fibrosis | 4.12 | 1.19 | 4.53 | 0.93 | 3.82 | 0.56 | 5.79 | 1.38 | |
| Classic hemophilia type A | 4.75 | 0.84 | 4.83 | 1.12 | 4.05 | 1.46 | 6.00 | 1.40 | |
| CPT IA deficiency* | 5.86 | 0.68 | 5.39 | 1.02 | 3.47 | 1.59 | 5.06 | 1.49 | |
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| Mild medical problems | Hypohidrotic ectodermal dysplasia | 5.54 | 1.65 | 5.57 | 1.33 | 6.51 | 1.66 | 5.35 | 1.17 |
| Ataxia with vitamin E deficiency | 5.62 | 1.77 | 4.69 | 1.29 | 5.85 | 1.41 | 5.41 | 1.36 | |
| Achromotopsia | 3.85 | 1.33 | 5.10 | 1.65 | 4.90 | 1.57 | 4.69 | 1.53 | |
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| Unpredictable medical outcomes | Fanconi anemia C | 2.59 | 1.70 | 3.26 | 1.28 | 4.06 | 1.46 | 6.12 | 1.01 |
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| Adult-onset conditions | Alkaptonuria | 4.68 | 1.82 | 5.38 | 1.58 | 5.41 | 1.80 | 1.95 | 0.88 |
| Alpha1-antitrypsin deficiency | 5.50 | 1.33 | 4.33 | 1.59 | 3.28 | 0.99 | 4.78 | 1.41 | |
| Hereditary hemochromatosis | 5.63 | 1.17 | 4.50 | 1.61 | 3.95 | 0.60 | 2.65 | 0.65 | |
| Gaucher disease type I | 3.87 | 1.88 | 2.69 | 1.32 | 3.33 | 0.63 | 4.82 | 1.51 | |
*
In practice, CPT IA deficiency falls in the shortened lifespan category because it is potentially life threatening to the mother carrying a child with this condition. However, because of the potential impact to the mother, the Return of Results Committee considered it important that all participants receive this information.