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Summary Literature (0)
DOID:12580 - Cri-Du-Chat syndrome


Disease Ontology Definition:A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat.

Synonyms: 5p deletion syndrome, 5p partial monosomy syndrome, 5p partial monosomy syndrome (disorder), Cri-du-chat syndrome, chromosome 5 short arm deletion syndrome, chromosome 5p deletion syndrome

In OMIM:
OMIM:123450 - CRI-DU-CHAT SYNDROME

In Mondo Disease Ontology:
MONDO:0007404 - Cri-du-chat syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ctnnd2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): chromosomal deletion syndrome (is_a), syndrome (is_a)