Term Name: | Cri-Du-Chat syndrome |
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Synonyms: | 5p deletion syndrome, 5p partial monosomy syndrome, chromosome 5 short arm deletion syndrome, chromosome 5p deletion syndrome |
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. |
Ontology: | Human Disease [DOID:12580] ( DOID:12580 ) |