DOID:0060179 - Renpenning syndrome
Disease Ontology Definition:An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
Synonyms: Golabi-Ito-Hall syndrome, Sutherland-Haan X-linked mental retardation syndrome, X-linked intellectual disability due to PQBP1 mutations, X-linked intellectual disability, Renpenning type, X-linked mental retardation Renpenning type, X-linked mental retardation with spastic diplegia, syndromic X-linked mental retardation 8
|OMIM:309500 - RENPENNING SYNDROME 1; RENS1|
|MONDO:0010653 - Renpenning syndrome|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : pqbp1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD