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- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia abstract "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. As with the vast majority of genetic disorders, there is no known cure to MICPCH.The following values seem to be aberrant in children with CASK gene defects: lactate, pyruvate, 2-ketoglutarate, adipic acid and suberic acid, which seems to backup the proposal that CASK affects mitochondrial function. It is also speculated that phosphoinositide 3-kinase in the inositol metabolism is impacted in the disease, causing folic acid metabolization problems.".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia omim "300749".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageID "39398552".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageLength "2548".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageOutDegree "19".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageRevisionID "693448816".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Adipic_acid.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Alpha-Ketoglutaric_acid.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink CASK.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Category:Neurodegenerative_disorders.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Folic_acid.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Gene.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Genetic_disorder.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Inositol.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Intellectual_disability.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Lactic_acid.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Mitochondrion.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Mutation.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Phosphoinositide_3-kinase.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Pontocerebellar_hypoplasia.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Pyruvic_acid.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Sex_linkage.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink Suberic_acid.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLink X-linked_intellectual_disability.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLinkText "Mental retardation and microcephaly with pontine and cerebellar hypoplasia".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageWikiLinkText "mental retardation and microcephaly with pontine and cerebellar hypoplasia".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia name "Mental retardation and microcephaly with pontine and cerebellar hypoplasia".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia omim "300749".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageUsesTemplate Template:Genetic-disorder-stub.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageUsesTemplate Template:Infobox_disease.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wikiPageUsesTemplate Template:Reflist.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia subject Category:Neurodegenerative_disorders.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia hypernym Disorder.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia type Disease.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia type Thing.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia type Q12136.
- 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.".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia label "Mental retardation and microcephaly with pontine and cerebellar hypoplasia".
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia sameAs Q16938818.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia sameAs m.0vps2s8.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia sameAs Q16938818.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia wasDerivedFrom Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia?oldid=693448816.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia isPrimaryTopicOf Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia.
- Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia name "Mental retardation and microcephaly with pontine and cerebellar hypoplasia".