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Clinical variability of genetic isolates of Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
(
CS
)
(
OMIM
#
216550
)
is
an
uncommon
autosomal
recessive
developmental
disorder
that
has
been
attributed
to
mutations
in
the
COH
1
gene
in
at
least
200
patients
of
diverse
ethnic
background
so
far
.
The
clinical
heterogeneity
of
CS
is
evident
when
comparing
patients
of
different
ethnic
backgrounds
,
especially
when
evaluating
specific
system
phenotypes
separately
,
such
as
the
ophthalmic
and
central
nervous
systems
.
We
reviewed
the
available
clinical
data
on
CS
cohorts
of
patients
who
share
a
founder
effect
and
demonstrated
that
most
features
associated
so
far
with
CS
are
less
than
those
always
present
in
the
patients
who
share
a
founder
mutation
thus
representing
clinical
heterogeneity
.
Furthermore
,
there
is
a
wide
clinical
variability
of
CS
in
the
distinct
founder
mutation
cohorts
,
the
Finnish
,
Greek
/
Mediterranean
,
Amish
and
Irish
travelers
.
The
Greek
/
Mediterranean
founder
mutation
is
correlated
to
a
CS
phenotype
characterized
by
specific
and
persistent
skeletal
features
,
corneal
changes
,
periodontal
disease
,
a
distinct
neurocognitive
phenotype
for
the
high
recurrence
of
autism
and
non-verbal
communication
and
inconstant
microcephaly
.
Diseases
Validation
Diseases presenting
"diverse ethnic background"
symptom
cohen syndrome
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