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Summary Literature (1)
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

In OMIM:
OMIM:309500 - RENPENNING SYNDROME 1; RENS1

In Mondo Disease Ontology:
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
Parent(s): syndromic X-linked intellectual disability (is_a)