X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
Definition
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
Also known as intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive, Oligophrenin-1 syndrome, OPHN1 syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome — per MONDO