X-linked intellectual disability-cerebellar hypoplasia syndrome

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: OPHN1 syndrome, Oligophrenin-1 syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome, intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive, MRX60 (formerly), OPHN1 XLMR, OPHN1 XLMR, X-linked intellectual disability, OPHN1 deficiency

1 clinical trial for this condition and its sub-types, 0 tagged with X-linked intellectual disability-cerebellar hypoplasia syndrome itself.