Cri-Du-Chat syndrome

Summary
Synonym
  • 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.
Super Class
chromosomal deletion syndrome syndrome
External Links
Disease Ontology
DOID:12580
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
9173 IL1RL1 interleukin 1 receptor like 1
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q01638 Interleukin-1 receptor-like 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024