L1 syndrome - CaLiGraph

Property	Value
rdf:type	owl:NamedIndividual Rare genetic syndrome Syndrome affecting the nervous system Syndrome with intellectual disability X-linked recessive disorder
rdfs:label	L1 syndrome
owl:sameAs	dbr:L1_syndrome
prov:wasDerivedFrom	http://en.wikipedia.org/wiki/Category:Rare_genetic_syndromes http://en.wikipedia.org/wiki/Category:Syndromes_affecting_the_nervous_system http://en.wikipedia.org/wiki/Category:Syndromes_with_intellectual_disability http://en.wikipedia.org/wiki/Category:X-linked_recessive_disorders http://en.wikipedia.org/wiki/Ciliopathy
skos:prefLabel	L1 syndrome
skos:altLabel	L1 disorder spectrum X‐linked congenital hydrocephalus (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus).
clgo:geneReviewsId	NBK1484
clgo:geneReviewsName	L1 Syndrome
clgo:icd10	Q04.8
clgo:medicalDiagnosis	Genetic testing
clgo:orpha	275543
clgo:medicalSpecialty	Neurology Medical genetics Pediatrics

About: clgr:L1_syndrome