Disease & disorder

X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

MONDO:0010611

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.

Outbreak surveillance

Global reported events

Explore recent public health notices potentially related to X-linked hydrocephalus with stenosis of the aqueduct of Sylvius. Results are keyword matches, not yet verified disease-to-outbreak relationships.

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Clinical trials1
Recruiting1
Drug concepts studied0
Synonyms15
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Background context

X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

Wikidata Q55345747 ↗
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.