Rare Disease Library

Mowat-Wilson syndrome due to monosomy 2q22

Hirschsprung disease and intellectual disability due to 2q22 microdeletion · Hirschsprung disease and intellectual disability due to del(2)(q22)

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

Total autosomal monosomy syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy 13 syndrome

Patau syndrome

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

Trisomy 1q syndrome

Duplication 1q

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

Xanthoma disseminatum

Montgomery syndrome