Rare Disease Library

N syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Okihiro syndrome due to 20q13 microdeletion

Duane-radial ray syndrome due to monosomy 20q13 · Okihiro syndrome due to del(20)(q13)

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

Pentasomy X syndrome

49,XXXXX syndrome · Penta-X

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

5q31.3 microdeletion syndrome · Del(5)(q31.3)

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 monosomy syndrome

Trisomy 10p syndrome

Trisomy 12p syndrome

Duplication 12p

Trisomy 13 syndrome

Patau syndrome

Trisomy 17p syndrome

Dup(17p)

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

Trisomy 18p syndrome

Duplication 18p · Duplication of the short arm of chromosome 18

Trisomy 1q syndrome

Duplication 1q

Trisomy 20p syndrome

Dup(20p) · Duplication of 20p

Trisomy 4p syndrome

Trisomy of the short arm of chromosome 4 · Duplication 4p

Trisomy 5p syndrome

Duplication 5p · Duplication of the short arm of chromosome 5

Trisomy 8p syndrome

Duplication 8p

Trisomy 8q syndrome

Duplication 8q

Trisomy 9p syndrome

Duplication 9p · Duplication of the short arm of chromosome 9

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

W syndrome

Pallister-W syndrome

Xanthoma disseminatum

Montgomery syndrome