SH3BP4

SH3 domain binding protein 4
OMIM: 605611, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red SH3BP4 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469