PropertyValue
?:definition
  • This syndrome has characteristics of microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes). Hypotonia, pre and postnatal growth retardation, a characteristic face (broad forehead with a low frontal hair line, a broad nasal bridge and prominent columella, hypoplastic alae nasi, short philtrum, and a straight mouth with thin lips and downward slanting palpebral fissures) and optic atrophy were also reported.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/net/provenance/ns#DataItem>
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.w3.org/2004/03/trix/rdfg-1/Graph>
<http://xmlns.com/foaf/0.1/primaryTopic> <https://research.tib.eu/covid-19/entity/C4304750_SNOMEDCT_US>
<http://xmlns.com/foaf/0.1/topic> Anon_0
<http://www.ontologydesignpatterns.org/cp/owl/informationrealization.owl#realizes> <https://research.tib.eu/covid-19/data/entity/C4304750_SNOMEDCT_US>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all