Rare Diseases Symptoms Automatic Extraction
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Cohen syndrome with insulin resistance and seizure.
[cohen syndrome]
Cohen
syndrome
is
a
rare
,
genetic
,
connective-tissue
disorder
with
the
genetic
abnormality
linked
to
chromosome
8
q
22
.
The
diagnosis
of
Cohen
syndrome
is
based
on
the
recognition
of
certain
clinical
findings
,
which
include
mental
retardation
,
typical
morphologic
stigmata
(
e
.
g
.
,
truncal
obesity
,
hypotonia
,
short
philtrum
,
prominent
frontal
incisors
,
high-arched
palate
,
narrow
hands
and
feet
)
,
and
characteristic
ophthalmologic
abnormalities
.
We
report
a
patient
manifesting
the
typical
characteristics
of
Cohen
syndrome
with
seizure
and
hyperinsulinemia
.
Diseases
Validation
Diseases presenting
"seizure"
symptom
alexander disease
canavan disease
cohen syndrome
cowden syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
neonatal adrenoleukodystrophy
pendred syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
This symptom has already been validated