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- Q478891 subject Q6313232.
- Q478891 subject Q6500135.
- Q478891 subject Q6853484.
- Q478891 subject Q7824736.
- Q478891 abstract "Simpson–Golabi–Behmel syndrome (SGBS), also called Bulldog syndrome, Sara Agers syndrome, Golabi–Rosen syndrome, Simpson dysmorphia syndrome (SDYS) or X-linked dysplasia gigantism syndrome (DGSX), is a rare inherited congenital disorder that can cause craniofacial, skeletal, cardiac, and renal abnormalities. The syndrome is inherited in an X-linked recessive fashion, where males express the phenotype and females usually do not. Females that possess one copy of the mutation are considered to be carriers of the syndrome and may express varying degrees of the phenotype.There are two types of SGBS, each found on a different gene:SGBS is also considered to be an overgrowth syndrome (OGS). OGS is characterized by a 2-3 standard deviation increase in weight, height, or head circumference above the average for sex and age. One of the most noted features of OGS is the increased risk of neoplasms in certain OGSs. SGBS in particular has been found to have a 10% tumor predisposition frequency with 94% of cases occurring in the abdominal region, most being malignant. It is common for tumors to be embryonal in type and appear before the age of 10. There are five different types of tumors that patients with SGBS might develop, all intra-abdominal: Wilms tumor, Hepatoblastoma, Hepatocarcinoma, Gonadoblastoma, and Neuroblastoma.The most common types of tumors developed in patients are the Wilms tumor and hepatoblastoma.".
- Q478891 icd10 "Q87.3".
- Q478891 icd9 "759.89".
- Q478891 omim "312870".
- Q478891 thumbnail X-linked_recessive.svg?width=300.
- Q478891 wikiPageExternalLink br.fcgi?book=gene&part=sgbs.
- Q478891 wikiPageWikiLink Q1148337.
- Q478891 wikiPageWikiLink Q1216998.
- Q478891 wikiPageWikiLink Q1607658.
- Q478891 wikiPageWikiLink Q1679678.
- Q478891 wikiPageWikiLink Q1753547.
- Q478891 wikiPageWikiLink Q18026064.
- Q478891 wikiPageWikiLink Q18046054.
- Q478891 wikiPageWikiLink Q1886514.
- Q478891 wikiPageWikiLink Q1988987.
- Q478891 wikiPageWikiLink Q2163245.
- Q478891 wikiPageWikiLink Q2297224.
- Q478891 wikiPageWikiLink Q241953.
- Q478891 wikiPageWikiLink Q285115.
- Q478891 wikiPageWikiLink Q371520.
- Q478891 wikiPageWikiLink Q431168.
- Q478891 wikiPageWikiLink Q459896.
- Q478891 wikiPageWikiLink Q521863.
- Q478891 wikiPageWikiLink Q524095.
- Q478891 wikiPageWikiLink Q5581320.
- Q478891 wikiPageWikiLink Q6313232.
- Q478891 wikiPageWikiLink Q6500135.
- Q478891 wikiPageWikiLink Q6853484.
- Q478891 wikiPageWikiLink Q7113674.
- Q478891 wikiPageWikiLink Q727096.
- Q478891 wikiPageWikiLink Q756289.
- Q478891 wikiPageWikiLink Q7824736.
- Q478891 wikiPageWikiLink Q7935646.
- Q478891 wikiPageWikiLink Q938205.
- Q478891 wikiPageWikiLink Q976163.
- Q478891 icd "759.89".
- Q478891 icd "Q87.3".
- Q478891 name "Simpson–Golabi–Behmel syndrome".
- Q478891 omim "312870".
- Q478891 type Disease.
- Q478891 type Thing.
- Q478891 type Q12136.
- Q478891 comment "Simpson–Golabi–Behmel syndrome (SGBS), also called Bulldog syndrome, Sara Agers syndrome, Golabi–Rosen syndrome, Simpson dysmorphia syndrome (SDYS) or X-linked dysplasia gigantism syndrome (DGSX), is a rare inherited congenital disorder that can cause craniofacial, skeletal, cardiac, and renal abnormalities. The syndrome is inherited in an X-linked recessive fashion, where males express the phenotype and females usually do not.".
- Q478891 label "Simpson–Golabi–Behmel syndrome".
- Q478891 depiction X-linked_recessive.svg.
- Q478891 name "Simpson–Golabi–Behmel syndrome".