X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
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
developmental defect during embryogenesis
rare genetic developmental defect during embryogenesis
syndrome with a cerebellar malformation as major feature
Monarch Disease Ontology release 2018-06-29