Rare Disease Library

Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

Mosaic paternal uniparental disomy of chromosome 11 · UPD(11)pat

Angelman syndrome due to paternal uniparental disomy of chromosome 15

UPD(15)pat

Autosomal uniparental disomy syndrome

Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14

UPD(14)pat

Maternal uniparental disomy of chromosome 1 syndrome

UPD(1)mat

Maternal uniparental disomy of chromosome 13 syndrome

UPD(13)mat

Maternal uniparental disomy of chromosome 16 syndrome

UPD(16)mat

Maternal uniparental disomy of chromosome 2 syndrome

UPD(2)mat

Maternal uniparental disomy of chromosome 20 syndrome

UPD(20)mat · Maternal UPD(20)

Maternal uniparental disomy of chromosome 21 syndrome

UPD(21)mat

Maternal uniparental disomy of chromosome 22 syndrome

UPD(22)mat

Maternal uniparental disomy of chromosome 4 syndrome

UPD(4)mat

Maternal uniparental disomy of chromosome 6 syndrome

UPD(6)mat

Maternal uniparental disomy of chromosome 9 syndrome

UPD(9)mat

Maternal uniparental disomy of chromosome X syndrome

UPD(X)mat

Maternal uniparental disomy syndrome

Mosaic genome-wide paternal uniparental disomy syndrome

Androgenetic/biparental mosaicism · Genome-wide paternal uniparental disomy mosaicism

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

Mosaic trisomy 10 syndrome

Trisomy 10 mosaicism · Mosaic trisomy chromosome 10

Mosaic trisomy 12 syndrome

Mosaic trisomy chromosome 12 · Trisomy 12 mosaicism

Mosaic trisomy 14 syndrome

Mosaic trisomy chromosome 14 · Trisomy 14 mosaicism

Mosaic trisomy 15 syndrome

Trisomy 15 mosaicism · Mosaic trisomy chromosome 15

Mosaic trisomy 16 syndrome

Mosaic trisomy chromosome 16 · Trisomy 16 mosaicism

Mosaic trisomy 17 syndrome

Trisomy 17 mosaicism · Mosaic trisomy chromosome 17

Mosaic trisomy 2 syndrome

Trisomy 2 mosaicism · Mosaic trisomy chromosome 2

Mosaic trisomy 20 syndrome

Trisomy 20 mosaicism · Mosaic trisomy chromosome 20

Mosaic trisomy 22 syndrome

Mosaic trisomy chromosome 22 · Trisomy 22 mosaicism

Mosaic trisomy 3 syndrome

Trisomy 3 mosaicism · Mosaic trisomy chromosome 3

Mosaic trisomy 4 syndrome

Mosaic trisomy chromosome 4 · Trisomy 4 mosaicism

Mosaic trisomy 5 syndrome

Trisomy 5 mosaicism · Mosaic trisomy chromosome 5

Mosaic trisomy 7 syndrome

Mosaic trisomy chromosome 7 · Trisomy 7 mosaicism

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

Mosaic trisomy 9 syndrome

Mosaic trisomy chromosome 9 · Trisomy 9 mosaicism

OBSOLETE: Uniparental disomy of chromosome 1

OBSOLETE: UPD(1)

OBSOLETE: Uniparental disomy of chromosome 11

OBSOLETE: UPD(11)

OBSOLETE: Uniparental disomy of chromosome 13

OBSOLETE: UPD(13)

OBSOLETE: Uniparental disomy of chromosome 14

OBSOLETE: UPD(14)

OBSOLETE: Uniparental disomy of chromosome 15

OBSOLETE: UPD(15)

OBSOLETE: Uniparental disomy of chromosome 20

OBSOLETE: UPD(20)

OBSOLETE: Uniparental disomy of chromosome 21

OBSOLETE: UPD(21)

OBSOLETE: Uniparental disomy of chromosome 6

OBSOLETE: UPD(6)

OBSOLETE: Uniparental disomy of chromosome 7

OBSOLETE: UPD(7)

Partial deletion of chromosome 1 syndrome

Partial monosomy of chromosome 1

Partial deletion of chromosome 10 syndrome

Partial monosomy of chromosome 10

Partial deletion of chromosome 11 syndrome

Partial monosomy of chromosome 11

Partial deletion of chromosome 12 syndrome

Partial monosomy of chromosome 12

Partial deletion of chromosome 16 syndrome

Partial monosomy of chromosome 16

Partial deletion of chromosome 17 syndrome

Partial monosomy of chromosome 17