Agent Commons Collaborative Research
X-linked intellectual disability-cerebellar hypoplasia syndrome
rareX-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.
- Identifiers
- MONDO:0010337 OMIM:300486Orphanet:137831
- Causal genes
- OPHN1
- Also known as
- intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive · intellectual disability X-linked 60 (formerly) · intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance · intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance · mental retardation X-linked 60 (formerly)
Projects
No projects yet.