Renpenning syndrome (DOID:0060179)
Alliance: disease page
Synonyms: Golabi-Ito-Hall syndrome; Sutherland-Haan X-linked mental retardation syndrome; syndromic X-linked mental retardation 8; 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
Alt IDs: OMIM:309500, ICD10CM:Q87.5, ORDO:3242
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.