Rare Disease Library

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Chromosome Y microdeletion syndrome

Male infertility due to chromosome Y microdeletion · Microdeletion of the AZF region on the Y chromosome

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

Ichthyosis follicularis-alopecia-photophobia syndrome

IFAP syndrome · Ichthyosis follicularis-atrichia-photophobia syndrome

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Infantile convulsions and choreoathetosis

ICCA syndrome · Paroxysmal kinesigenic dyskinesia and infantile convulsions

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

Iridocorneal endothelial syndrome

ICE syndrome

Isaacs syndrome

Continuous muscle fiber activity syndrome · Quantal squander syndrome

Isochromosome Y syndrome

Isochromosomy Yp syndrome

Isochromosomy Yq syndrome

Isolated congenital onychodysplasia

COIF · COIF syndrome

Isotretinoin syndrome

Isotretinoin embryopathy · Retinoic acid embryopathy

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

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 12 syndrome

Mosaic trisomy chromosome 12 · Trisomy 12 mosaicism

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

Partial deletion of chromosome 12 syndrome

Partial monosomy of chromosome 12

Polysomy of X chromosome syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 10 syndrome

Ring chromosome 10 · Ring 10

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 12 syndrome

Ring chromosome 12 · Ring 12

Ring chromosome 13 syndrome

Ring chromosome 13 · Ring 13

Ring chromosome 14 syndrome

Ring chromosome 14 · Ring 14

Ring chromosome 15 syndrome

Ring chromosome 15 · Ring 15

Ring chromosome 16 syndrome

Ring chromosome 16 · Ring 16

Ring chromosome 17 syndrome

Ring chromosome 17 · Ring 17

Ring chromosome 18 syndrome

Ring chromosome 18 · Ring 18

Ring chromosome 19 syndrome

Ring chromosome 19 · Ring 19

Ring chromosome 2 syndrome

Ring chromosome 2 · Ring 2

Ring chromosome 20 syndrome

Ring chromosome 20 · Ring 20

Ring chromosome 21 syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Ring chromosome 3 syndrome

Ring chromosome 3 · Ring 3

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 5 syndrome

Ring chromosome 5 · Ring 5

Ring chromosome 6 syndrome

Ring chromosome 6 · Ring 6

Ring chromosome 7 syndrome

Ring 7 · Ring chromosome 7

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8