Disease: Renpenning syndrome

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, 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

OMIM: MIM:309500