Rare Diseases Symptoms Automatic Extraction
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Atypical focal cortical dysplasia in a patient with Cowden syndrome.
[cowden syndrome]
A
macrocephalic
girl
presented
with
generalised
epilepsy
due
to
focal
cortical
dysplasia
.
She
later
developed
multiple
hamartomatous
lesions
and
was
diagnosed
to
have
Cowden
syndrome
.
The
diagnosis
was
confirmed
by
identification
of
a
novel
frameshift
mutation
in
the
PTEN
gene
of
the
patient
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated