Rare Disease Library

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

2p25.3 microduplication syndrome

Trisomy 2p25.3 syndrome · Dup(2)(p25.3)

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

Autosomal trisomy syndrome

Autosomal duplication

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

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

Pentasomy X syndrome

49,XXXXX syndrome · Penta-X

Progressive supranuclear palsy

PSP syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Pseudo-Meigs syndrome

Pseudo-Demons-Meigs syndrome

Pseudo-TORCH syndrome type 1

Band like calcification with simplified gyration and polymicrogyria · BLC-PMG

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

Pseudo-Zellweger syndrome

Thiolase deficiency

Pseudoaminopterin syndrome

ASSA · Aminopterin syndrome-like sine aminopterin

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

Spondyloepimetaphyseal dysplasia, Maroteaux type

Pseudo-Morquio syndrome type 2 · SEMD-M

Tetrasomy 18p syndrome

Isochromosome 18p

Tetrasomy 21 syndrome

Isochromosome 21

Tetrasomy 5p syndrome

Isochromosome 5p

Tetrasomy 9p syndrome

Isochromosome 9p

Tetrasomy X syndrome

48,XXXX syndrome · Quadruple X

Total autosomal trisomy syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Triploidy syndrome

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

Trisomy 10p syndrome