/X-linked intellectual disability-cerebellar hypoplasia syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

Rare Disease

MONDO:0010337

Also Known As

OPHN1 syndromeOligophrenin-1 syndromeX-linked intellectual disability-cerebellar hypoplasia syndromeintellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessiveMRX60 (formerly)OPHN1 XLMROPHN1 XLMR, X-linked intellectual disabilityOPHN1 deficiencyOPHN1- related XLIDX-linked intellectual Deficit with cerebellar Hypoplasiaintellectual disability X-linked 60 (formerly)intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearanceintellectual disability, X-linked 60intellectual disability, X-linked 60, formerlyintellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearancemental retardation X-linked 60 (formerly)mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearancemental retardation, X-linked 60mental retardation, X-linked 60, formerlymental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance

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.