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A random Abstract
Our Project
Our Team
[Syndromic autism: II. Genetic syndromes associated with autism].
[cohen syndrome]
In
this
study
we
report
on
the
different
genetic
syndromes
in
which
autism
has
been
described
as
one
of
the
possible
manifestations
.
Certain
genetic
syndromes
are
providing
us
with
extremely
valuable
information
about
the
role
played
by
genetics
in
autism
.
This
is
the
case
of
the
following
syndromes
:
Angelman
syndrome
,
Prader-
Willi
syndrome
,
15
q
11
-
q
13
duplication
,
fragile
X
syndrome
,
fragile
X
premutation
,
deletion
of
chromosome
2
q
,
XYY
syndrome
,
Smith-
Lemli-
Opitz
syndrome
,
Apert
syndrome
,
mutations
in
the
ARX
gene
,
De
Lange
syndrome
,
Smith-
Magenis
syndrome
,
Williams
syndrome
,
Rett
syndrome
,
Noonan
syndrome
,
Down
syndrome
,
velo-cardio-
facial
syndrome
,
myotonic
dystrophy
,
Steinert
disease
,
tuberous
sclerosis
,
Duchenne
's
disease
,
Timothy
syndrome
,
10
p
terminal
deletion
,
Cowden
syndrome
,
45
,
X
/
46
,
XY
mosaicism
,
Myhre
syndrome
,
Sotos
syndrome
,
Cohen
syndrome
,
Goldenhar
syndrome
,
Joubert
syndrome
,
Lujan-
Fryns
syndrome
,
Moebius
syndrome
,
hypomelanosis
of
Ito
,
neurofibromatosis
type
1
,
CHARGE
syndrome
and
HEADD
syndrome
.
Diseases
Validation
Diseases presenting
"extremely valuable information about the role"
symptom
cohen syndrome
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