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|---|---|---|---|---|
| achondroplasia | 4 | 8 | 3 | |
| craniosynostosis | 1 | 1 | 21 | |
| retinoblastoma | 1 | 1 | 10 | |
| intraocular capillary perfusion test | 1 | 1 | 6 | |
| cadasil | 1 | 1 | 6 | |
| xeroderma pigmentosum | 1 | 2 | 8 | |
| smith lemli opitz syndrome | 1 | 1 | 6 | |
| charcot-marie tooth syndrome | 1 | 1 | 19 | |
| epidermolysis bullosa simplex what is it | 1 | 1 | 1 | |
| calcification in basal ganglia | 1 | 1 | 1 | |
| prader-willi syndrome | 1 | 1 | 4 | |
| hereditary spastic paraplegia | 1 | 1 | 4 | |
| brca-1 and brca-2 | 1 | 1 | 4 | |
| factor five leiden | 1 | 2 | 9 | |
| isolated trigonocephaly | 1 | 2 | 25 | |
| angelman syndrome | 1 | 2 | 9 | |
| v-leiden heterozygosity | 1 | 1 | 4 | |
| 22q11 deletion | 1 | 1 | 1 | |
| hereditary axonal neuropathy | 1 | 1 | 2 | |
| niemann-pick type c | 1 | 1 | 3 | |
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