Summary Literature (0)

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,

Echinobase Genes : pqbp1


OMIM:

MIM:309500 - renpenning syndrome 1; rens1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee