Version: 8.0.0
Date: Tue Jan 28 2025
Antley-Bixler syndrome with disordered steroidogenesis
DOID:0050462
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Antley-Bixler syndrome with disordered steroidogenesis

Definition
An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
Synonyms
  • trapezoidocephaly-synostosis syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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