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
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
545 ATR ATR serine/threonine kinase
55755 CDK5RAP2 CDK5 regulatory subunit associated protein 2
84126 ATRIP ATR interacting protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
57773 Wdr4 WD repeat domain 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
40859 Sas-4 Spindle assembly abnormal 4

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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