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Standards Ontologies Notations
cerebellar atrophy, visual impairment, and psychomotor retardation

Summary
Synonym
  • CAVIPMR
Definition
A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:0081276
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23065 EMC1 ER membrane protein complex subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
230866 Emc1 ER membrane protein complex subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
362643 Emc1 ER membrane protein complex subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
431852 emc1.L ER membrane protein complex subunit 1 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
173524 emc-1 ER membrane protein complex subunit 1;WD_REPEATS_REGION domain-containing protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
850312 EMC1 Emc1p
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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: December 9, 2024