KEGG   DISEASE: Skeletal defects, genital hypoplasia, and mental retardationHelp
Entry
H00969                      Disease                                

Name
Skeletal defects, genital hypoplasia, and mental retardation
Description
This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the radius and ulna, and additional vertebral bodies and ribs. The causative gene is ZBTB16, one of the fusion partners with retinoic acid receptor-alpha in acute promyelocytic leukemia.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00969  Skeletal defects, genital hypoplasia, and mental retardation
BRITE hierarchy
Gene
ZBTB16 [HSA:7704] [KO:K10055]
Other DBs
MeSH: C567306
OMIM: 612447
Reference
  Authors
Fischer S, Kohlhase J, Bohm D, Schweiger B, Hoffmann D, Heitmann M, Horsthemke B, Wieczorek D
  Title
Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia.
  Journal
J Med Genet 45:731-7 (2008)
DOI:10.1136/jmg.2008.059451

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