Partial duplication of chromosome 7 syndrome
ORPHA:262633Partial duplication of the long arm of chromosome 7 syndrome
ORPHA:262887Partial duplication of the short arm of chromosome 7 syndrome
ORPHA:262749Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
ORPHA:96193Mosaic trisomy 1 syndrome
ORPHA:1692Mosaic trisomy 10 syndrome
ORPHA:96063Mosaic trisomy 12 syndrome
ORPHA:1698Mosaic trisomy 14 syndrome
ORPHA:1703Mosaic trisomy 15 syndrome
ORPHA:1706Mosaic trisomy 16 syndrome
ORPHA:1708Mosaic trisomy 17 syndrome
ORPHA:1711Mosaic trisomy 2 syndrome
ORPHA:1723Mosaic trisomy 20 syndrome
ORPHA:1724Mosaic trisomy 22 syndrome
ORPHA:96068Mosaic trisomy 3 syndrome
ORPHA:100071Mosaic trisomy 4 syndrome
ORPHA:96059Mosaic trisomy 5 syndrome
ORPHA:96060Mosaic trisomy 7 syndrome
ORPHA:1747Mosaic trisomy 8 syndrome
ORPHA:96061Mosaic trisomy 9 syndrome
ORPHA:99776OBSOLETE: Uniparental disomy of chromosome 1
ORPHA:263019OBSOLETE: Uniparental disomy of chromosome 6
ORPHA:263024OBSOLETE: Uniparental disomy of chromosome 7
ORPHA:263029Partial autosomal duplication/triplication syndrome
ORPHA:98132Partial deletion of chromosome 1 syndrome
ORPHA:261766Partial deletion of chromosome 10 syndrome
ORPHA:261811Partial deletion of chromosome 11 syndrome
ORPHA:261816Partial deletion of chromosome 12 syndrome
ORPHA:282124Partial deletion of chromosome 16 syndrome
ORPHA:261826Partial deletion of chromosome 17 syndrome
ORPHA:261831Partial deletion of chromosome 18 syndrome
ORPHA:261836Partial deletion of chromosome 19 syndrome
ORPHA:261841Partial deletion of chromosome 2 syndrome
ORPHA:261771Partial deletion of chromosome 20 syndrome
ORPHA:261846Partial deletion of chromosome 3 syndrome
ORPHA:261776Partial deletion of chromosome 4 syndrome
ORPHA:261781Partial deletion of chromosome 5 syndrome
ORPHA:261786Partial deletion of chromosome 6 syndrome
ORPHA:261791Partial deletion of chromosome 7 syndrome
ORPHA:261796Partial deletion of chromosome 8 syndrome
ORPHA:261801Partial deletion of chromosome 9 syndrome
ORPHA:261806Partial deletion of chromosome X syndrome
ORPHA:263726Partial deletion of the long arm of chromosome 1 syndrome
ORPHA:262001Partial deletion of the long arm of chromosome 10 syndrome
ORPHA:262083Partial deletion of the long arm of chromosome 11 syndrome
ORPHA:262092Partial deletion of the long arm of chromosome 12 syndrome
ORPHA:261821Partial deletion of the long arm of chromosome 13 syndrome
ORPHA:262101Partial deletion of the long arm of chromosome 14 syndrome
ORPHA:262110