FG syndrome

Summary
Synonym
  • Keller syndrome
  • Opitz-Kaveggia syndrome
Definition
A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.
Super Class
X-linked recessive disease syndrome
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
8573 CASK calcium/calmodulin dependent serine protein kinase
9968 MED12 mediator complex subunit 12
Displaying 1 entry
Gene ID Gene Symbol Description Source
850442 SRB8 Srb8p

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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