About: CHAMP1-associated intellectual disability syndrome

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CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40 is a rare genetic disorder which is characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	CHAMP1-associated intellectual disability syndrome (en)
rdfs:comment	CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40 is a rare genetic disorder which is characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies. (en)
name	CHAMP1-associated intellectual disability syndrome (en)
dcterms:subject	Rare genetic syndromes Developmental disabilities Genetic diseases and disorders Neurodevelopmental disorders Syndromes affecting the gastrointestinal tract Congenital disorders of eye, ear, face and neck
Wikipage page ID	71133576 (xsd:integer)
Wikipage revision ID	1123584992 (xsd:integer)
Link from a Wikipage to another Wikipage	Prognathism De novo mutation Dysmorphic feature Pediatry Rare genetic syndromes Genetic disorder Nonsense mutation Epicanthic fold Genetic mutation Stereotypy Strabismus Medical genetics Autism Dolichocephaly Developmental disabilities Genetic diseases and disorders Neurodevelopmental disorders Syndromes affecting the gastrointestinal tract Chromosome 13 Ataxia Hypoalgesia Hypotonia Missense mutation Dominance (genetics) Congenital disorders of eye, ear, face and neck Hyperopia CHAMP1 Philtrum Intellectual disabilities Palpebral fissure Gastroesophageal reflux Respiratory tract infections Developmental delays Joint hypermobility High palate Speech delays dbr:Lip_vermilion
sameAs	CHAMP1-associated intellectual disability syndrome CHAMP1-associated intellectual disability syndrome
specialty	Pediatry Medical genetics
dbp:wikiPageUsesTemplate	dbt:Genetic-disorder-stub dbt:Orphan dbt:Reflist dbt:Infobox_medical_condition dbt:Copy_edit_section
deaths	- (en)
onset	Birth (en)
symptoms	Developmental delays, intellectual disability, and other multi-systemic symptoms (en)
causes	Genetic mutation in CHAMP1 (en)
duration	Lifelong (en)
frequency	rare, only 36 cases have been described around the world (en)
synonyms	Autosomal dominant intellectual disability 40 (en)
has abstract	CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40 is a rare genetic disorder which is characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies. (en)
prevention	None (en)
prognosis	With treatment, prognosis is medium to good, without treatment, prognosis is medium to poor (en)
prov:wasDerivedFrom	wikipedia-en:CHAMP1-associated_intellectual_disability_syndrome?oldid=1123584992&ns=0
page length (characters) of wiki page	7539 (xsd:nonNegativeInteger)
alias	(en) Autosomal dominant intellectual disability 40 (en)
foaf:isPrimaryTopicOf	wikipedia-en:CHAMP1-associated_intellectual_disability_syndrome
is Link from a Wikipage to another Wikipage of	Severe intellectual disability-progressive spastic diplegia syndrome Autosomal dominant intellectual disability 40
is Wikipage redirect of	Autosomal dominant intellectual disability 40
is foaf:primaryTopic of	wikipedia-en:CHAMP1-associated_intellectual_disability_syndrome

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