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
Term information
- GARD:12524 (MONDO:GARD)
- icd11.foundation:1457804873 (MONDO:equivalentTo)
- MEDGEN:1830362 (MONDO:equivalentTo)
- UMLS:C5779710 (MONDO:equivalentTo)
- NORD:1343 (MONDO:NORD)
- Orphanet:275543 (MONDO:equivalentTo)
ordo_disorder, matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_llm__tag_existing_treatment_other, nord_rare, matrix_included, clingen, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, ordo_malformation_syndrome, mondo_top_grouping_disorder_of_development_or_morphogenesis, orphanet_rare
http://identifiers.org/medgen/1830362
http://www.orpha.net/ORDO/Orphanet_275543
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1457804873
http://linkedlifedata.com/resource/umls/id/C5779710