Renpenning syndrome
Renpenning syndrome
Definition
An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
Also known as Golabi-Ito-Hall syndrome, Renpenning syndrome, Renpenning syndrome type 1, renpenning syndrome, X-linked recessive, Sutherland-Haan X-linked intellectual disability syndrome, Sutherland-Haan X-linked mental retardation syndrome, syndromic X-linked intellectual disability 8, X-linked intellectual disability due to PQBP1 mutations, X-linked intellectual disability Renpenning type, X-linked intellectual disability with spastic diplegia, X-linked intellectual disability, Renpenning type — per MONDO