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RAB23-related Carpenter syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.
Uniprot Description A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed.
Mondo Term and Equivalent IDs
MONDO:0008710:  RAB23-related Carpenter syndrome
SCTID:205813009: