Seckel syndrome

Summary
Synonym
  • Harper's syndrome
  • Virchow-Seckel dwarfism
  • bird-headed dwarfism
  • microcephalic primordial dwarfism
Definition
A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:0050569
Mondo Disease Ontology
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
55755 CDK5RAP2 CDK5 regulatory subunit associated protein 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q96SN8 CDK5 regulatory subunit-associated protein 2
Displaying 1 entry
UniProt ID Protein Name Source
Q9JKK8 Serine/threonine-protein kinase ATR

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.2.1

Last updated: April 7, 2025