Matches in DBpedia 2016-04 for { ?s ?p "Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as Mental retardation, X-linked, syndromic, Najm type (MRXSNA), is a rare genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia.The disorder is associated with a mutation in the CASK gene which is transmitted in an X-linked manner."@en }
Showing triples 1 to 2 of
2
with 100 triples per page.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia comment "Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as Mental retardation, X-linked, syndromic, Najm type (MRXSNA), is a rare genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia.The disorder is associated with a mutation in the CASK gene which is transmitted in an X-linked manner.".
- Q16938818 comment "Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as Mental retardation, X-linked, syndromic, Najm type (MRXSNA), is a rare genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia.The disorder is associated with a mutation in the CASK gene which is transmitted in an X-linked manner.".