About: Mental retardation and microcephaly with pontine and cerebellar hypoplasia

Property	Value
dbo:description	Krankheit (de) malattia (it) sairaus (fi) хвороба (uk) مرض يصيب الإنسان (ar) rare X-linked dominant genetic disorder (en)
dbo:icd10	Q04.3
dbo:omim	300749 (xsd:integer)
dbo:orpha	163937
dbo:thumbnail	wiki-commons:Special:FilePath/X-linked_dominant_(affected_mother).svg?width=300
dbo:wikiPageExternalLink	https://caskresearch.org
dbo:wikiPageWikiLink	dbr:Valproate dbr:Pathogen dbr:Hypotonia dbr:X_chromosome dbc:Neurodegenerative_disorders dbr:Gastroesophageal_reflux_disease dbr:Microcephaly dbr:Clobazam dbr:Inositol dbr:Suberic_acid dbr:Gastrointestinal_tract dbr:Gene dbr:Genetic_disorder dbr:Anticonvulsant dbr:Constipation dbr:Mitochondrion dbr:Adipic_acid dbr:Phosphoinositide_3-kinase dbr:Vigabatrin dbr:Pontocerebellar_hypoplasia dbr:Fine_motor_skill dbr:ICD-10 dbr:Mutation dbr:Lactic_acid dbr:X-linked_intellectual_disability dbr:Intellectual_disability dbr:Pyruvate dbr:Gross_motor_skill dbr:CASK dbr:Folic_acid dbr:Epileptic_spasms dbr:X-linked_dominant dbr:Ketoglutarate dbr:Infantile_spasms
dbp:caption	This condition is inherited in an X-linked dominant manner. (en)
dbp:icd	Q04.3 (en)
dbp:name	Intellectual disability and microcephaly with pontine and cerebellar hypoplasia (en)
dbp:omim	300749 (xsd:integer)
dbp:orphanet	163937 (xsd:integer)
dbp:synonyms	X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia (en)
dbp:wikiPageUsesTemplate	dbt:Reflist dbt:Medical_resources dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Short_description
dct:subject	dbc:Neurodegenerative_disorders
gold:hypernym	dbr:Disorder
rdf:type	owl:Thing wikidata:Q12136
rdfs:label	Mental retardation and microcephaly with pontine and cerebellar hypoplasia (en) MICPCH-Syndrom (de)
owl:sameAs	freebase:Mental retardation and microcephaly with pontine and cerebellar hypoplasia wikidata:Mental retardation and microcephaly with pontine and cerebellar hypoplasia dbpedia-de:Mental retardation and microcephaly with pontine and cerebellar hypoplasia dbpedia-global:Mental retardation and microcephaly with pontine and cerebellar hypoplasia dbr:Mental retardation and microcephaly with pontine and cerebellar hypoplasia
prov:wasDerivedFrom	wikipedia-en:Mental_retardation_and_microcephaly_wi...llar_hypoplasia?oldid=1295981184&ns=0
foaf:depiction	wiki-commons:Special:FilePath/X-linked_dominant_(affected_mother).svg
foaf:isPrimaryTopicOf	wikipedia-en:Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia
foaf:name	Intellectual disability and microcephaly with pontine and cerebellar hypoplasia (en)
is dbo:wikiPageRedirects of	dbr:MICPCH dbr:MRXSNA dbr:Intellectual_disability_and_microcephaly_with_pontine_and_cerebellar_hypoplasia
is dbo:wikiPageWikiLink of	dbr:List_of_OMIM_disorder_codes dbr:Pontocerebellar_hypoplasia dbr:X-linked_intellectual_disability dbr:CASK dbr:MICPCH dbr:MRXSNA dbr:Intellectual_disability_and_microcephaly_with_pontine_and_cerebellar_hypoplasia
is foaf:primaryTopic of	wikipedia-en:Mental_retardation_and_microcephaly_with_pontine_and_cerebellar_hypoplasia