has material basis in germline mutation in disease arises from feature disease has basis in feature L1CAM Aqueductal stenosis X-linked disease X-linked hydrocephalus with stenosis of the aqueduct of Sylvius https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/hydrocephalus_congenital_x_linked https://www.malacards.org/card/x_linked_hydrocephalus_with_stenosis_of_the_aqueduct_of_sylvius hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction HSAS X-linked hydrocephalus with stenosis of aqueduct of Sylvius hydrocephalus due to aqueductal stenosis, X-linked recessive HYCX Bickers-Adams syndrome HSAS1 hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive SCTID:71779008 icd11.foundation:1284135636 MESH:C536078 GARD:0000434 hydrocephalus with stenosis of the aqueduct of Sylvius aqueductal stenosis, X-linked X-linked acqueductal stenosis X-linked HSAS X-linked hydrocephalus MONDO:0010611 hydrocephalus with hirschsprung disease, X-linked recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus, X-linked X-linked hydrocephalus with stenosis of the aqueduct of Sylvius MEDGEN:75552 UMLS:C0265216 XLAS Orphanet:2182 OMIM:307000 A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis. congenital hydrocephalus L1 syndrome