Lista chorób rzadkich*

261120 - 14q11.2 microdeletion syndrome

261144 - FOXG1 syndrome due to 14q12 microdeletion

261183 - 15q11.2 microdeletion syndrome

261190 - 15q14 microdeletion syndrome

261197 - Proximal 16p11.2 microdeletion syndrome

261204 - 16p11.2p12.2 microduplication syndrome

261211 - 16p11.2p12.2 microdeletion syndrome

261222 - Distal 16p11.2 microdeletion syndrome

261229 - 14q11.2 microduplication syndrome

261236 - 16p13.11 microdeletion syndrome

261243 - 16p13.11 microduplication syndrome

261250 - 16q24.3 microdeletion syndrome

261257 - Distal 17p13.3 microdeletion syndrome

261265 - 17q12 microdeletion syndrome

261272 - 17q12 microduplication syndrome

261279 - 17q23.1q23.2 microdeletion syndrome

261290 - Trisomy 17p

261295 - 20p12.3 microdeletion syndrome

261304 - Paternal 20q13.2q13.3 microdeletion syndrome

261311 - 20q13.33 microdeletion syndrome

261318 - Trisomy 20p

261323 - 21q22.11q22.12 microdeletion syndrome

261330 - Distal 22q11.2 microdeletion syndrome

261337 - Distal 22q11.2 microduplication syndrome

261344 - Trisomy 1q

261349 - 2p15p16.1 microdeletion syndrome

261476 - Xp21 deletion syndrome

261483 - Xq27.3q28 duplication syndrome

261494 - Kleefstra syndrome

261501 - Atypical Norrie disease due to Xp11.3 microdeletion

261512 - OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3

261519 - Maternal uniparental disomy of chromosome X

261524 - Paternal uniparental disomy of chromosome X

261529 - Ring chromosome Y syndrome

261534 - 49,XXXYY syndrome

261537 - Mowat-Wilson syndrome due to monosomy 2q22

261552 - Mowat-Wilson syndrome due to a ZEB2 point mutation

261559 - OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

261572 - OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

261579 - OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations

261584 - Familial adenomatous polyposis due to 5q22.2 microdeletion

261600 - Alagille syndrome due to 20p12 microdeletion

261619 - Alagille syndrome due to a JAG1 point mutation

261629 - Alagille syndrome due to a NOTCH2 point mutation

261638 - Okihiro syndrome due to 20q13 microdeletion

261647 - Okihiro syndrome due to a point mutation

261652 - Kleefstra syndrome due to a point mutation

261697 - OBSOLETE: Anomaly of chromosome 1

261700 - OBSOLETE: Anomaly of chromosome 2

261703 - OBSOLETE: Anomaly of chromosome 3

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