X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
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.
MONDO:0000425
X-linked disease
is_a
MONDO:0016349
congenital hydrocephalus
is_a
MONDO:0017140
L1 syndrome
is_a
Bickers-Adams syndrome
exact
HSAS
exact
HSAS1
related
HYCX
related
X-linked HSAS
exact
X-linked acqueductal stenosis
exact
X-linked hydrocephalus
exact
X-linked hydrocephalus with stenosis of aqueduct of Sylvius
exact
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
exact
XLAS
related
hydrocephalus due to aqueductal stenosis, X-linked recessive
exact
hydrocephalus due to congenital stenosis of aqueduct of Sylvius
related
hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive
exact
hydrocephalus with hirschsprung disease, X-linked recessive
exact
hydrocephalus with stenosis of the aqueduct of Sylvius
exact