IMAGe syndrome

Summary
Synonym
  • intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
Definition
A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene.
Super Class
syndrome
External Links
Disease Ontology
DOID:0050885
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8879 SGPL1 sphingosine-1-phosphate lyase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O95470 Sphingosine-1-phosphate lyase 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