3p deletion syndrome

Summary
Synonym
  • chromosome 3pter-P25 deletion syndrome
  • distal monosomy 3p
Definition
A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia.
Super Class
autosomal dominant disease chromosomal deletion syndrome
External Links
Disease Ontology
DOID:0060417
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
5621 PRNP prion protein (Kanno blood group)
158326 FREM1 FRAS1 related extracellular matrix 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