About: Severe intellectual disability-progressive spastic diplegia syndrome

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Severe intellectual disability-progressive spastic diplegia syndrome is a rare novel genetic disorder characterized by severe intellectual disabilities, ataxia, craniofacial dysmorphisms, and muscle spasticity. It is a type of autosomal dominant syndromic intellectual disability.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Severe intellectual disability-progressive spastic diplegia syndrome (en)
rdfs:comment	Severe intellectual disability-progressive spastic diplegia syndrome is a rare novel genetic disorder characterized by severe intellectual disabilities, ataxia, craniofacial dysmorphisms, and muscle spasticity. It is a type of autosomal dominant syndromic intellectual disability. (en)
name	Severe intellectual disability-progressive spastic diplegia syndrome (en)
foaf:depiction
dcterms:subject	Neurogenetic disorders Rare genetic syndromes Autosomal dominant disorders
Wikipage page ID	71681295 (xsd:integer)
Wikipage revision ID	1118914115 (xsd:integer)
Link from a Wikipage to another Wikipage	Developmental delay Neurogenetic disorders DECIPHER De novo mutation Developmental regression Dysmorphic feature Pediatry Rare genetic syndromes Corpus callosum Gene therapy Genetic disorder Genetic testing Low-set ears Genetic mutation Strabismus Columella Medical genetics Spastic diplegia Autism Cerebellum Chromosome 3 Retinal detachment Speech delay Psychomotor retardation Ataxia Autosomal dominant disorders Syringomyelia High-arched palate Trunk (anatomy) CHAMP1-associated intellectual disability syndrome Physical examination Physical therapy Spain Spasticity FBXW7 neurodevelopmental disorder Fair skin Indels Microcephaly Microtia Occupational therapy Seizures Hyperactivity Short stature Olfactory bulb Ventriculomegaly Speech therapy Philtrum Intellectual disabilities Sacral dimple Polydactyly Self harm Farsightedness Alae nasi Nearsightedness Developmental delays CTNNB1 Exudative vitreoretinopathy Neonatal respiratory distress syndrome dbr:Narrow_palate dbr:Thumb_adduction
sameAs	Severe intellectual disability-progressive spastic diplegia syndrome Severe intellectual disability-progressive spastic diplegia syndrome
specialty	Pediatry Medical genetics
dbp:wikiPageUsesTemplate	dbt:Orphan dbt:Reflist dbt:Infobox_medical_condition
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
deaths	- (en)
causes	Genetic mutation
frequency	rare, only 1 out of 50,000 live births have this condition (en)
synonyms	CTNNB1 syndrome, CTNNB1-related intellectual disability, Intellectual disability, autosomal dominant 19 (en)
has abstract	Severe intellectual disability-progressive spastic diplegia syndrome is a rare novel genetic disorder characterized by severe intellectual disabilities, ataxia, craniofacial dysmorphisms, and muscle spasticity. It is a type of autosomal dominant syndromic intellectual disability. (en)
prevention	none (en)
prognosis	good (en)
prov:wasDerivedFrom	wikipedia-en:Severe_intellectual_disability-progressive_spastic_diplegia_syndrome?oldid=1118914115&ns=0
page length (characters) of wiki page	23437 (xsd:nonNegativeInteger)
alias	(en) CTNNB1 syndrome, CTNNB1-related intellectual disability, Intellectual disability, autosomal dominant 19 (en)
foaf:isPrimaryTopicOf	wikipedia-en:Severe_intellectual_disability-progressive_spastic_diplegia_syndrome
is foaf:primaryTopic of	wikipedia-en:Severe_intellectual_disability-progressive_spastic_diplegia_syndrome

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