Pediatric Endocrinology Terminology
Simpson-Golabi-Behmel Syndrome
An X-linked recessive syndrome caused by mutation(s) in the GPC3, OFD1, or rarely the GPC4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities.
An X-linked recessive syndrome caused by mutation(s) in the GPC3, OFD1, or rarely the GPC4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities.
C131002
CCPS
CL513991
Disease or Syndrome
NICHD
Simpson Dysmorphia Syndrome
Simpson-Golabi-Behmel Syndrome
Simpson-Golabi-Behmel Syndrome
Childhood Cancer Predisposition Study Terminology
GPC4 Gene
CCPS Disease Terminology
Syndrome
OFD1 Gene
GPC3 Gene
NICHD Terminology