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L1 syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0017140

L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. [ Orphanet:275543 ]

Synonyms: L1CAM syndrome corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome CRASH syndrome L1 syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:12524 (MONDO:GARD)
  • MEDGEN:1830362 (MONDO:equivalentTo)
  • NORD:1343 (MONDO:NORD)
  • UMLS:C5779710 (MONDO:equivalentTo)
  • Orphanet:275543 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

ClinGen label
L1 syndrome

exactMatch

http://identifiers.org/medgen/1830362

http://www.orpha.net/ORDO/Orphanet_275543

http://linkedlifedata.com/resource/umls/id/C5779710

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020119

id

MONDO:0017140

term tracker item

https://github.com/monarch-initiative/mondo/issues/5588

Term relations