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CECR cat eye syndrome chromosome region [ Homo sapiens (human) ]

Gene ID: 1055, updated on 24-Mar-2019

Summary

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Official Symbol
CECRprovided by HGNC
Official Full Name
cat eye syndrome chromosome regionprovided by HGNC
Primary source
HGNC:HGNC:1838
See related
MIM:115470
Gene type
other
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CES
Summary
Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]
Annotation information
not in current annotation release
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Genomic context

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Location:
22pter-q11

Bibliography

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GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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