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Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
[cohen syndrome]
Cohen
syndrome
,
caused
by
mutations
in
the
COH
1
gene
,
is
an
autosomal
recessive
disorder
consisting
of
mental
retardation
,
microcephaly
,
growth
delay
,
severe
myopia
,
progressive
chorioretinal
dystrophy
,
facial
anomalies
,
slender
limbs
with
narrow
hands
and
feet
,
tapered
fingers
,
short
stature
,
kyphosis
and
/
or
scoliosis
,
pectus
carinatum
,
joint
hypermobility
,
pes
calcaneovalgus
,
and
,
variably
,
truncal
obesity
.
Here
,
we
describe
the
clinical
and
molecular
findings
in
14
patients
from
an
isolated
Greek
island
population
.
The
clinical
phenotype
was
fairly
homogeneous
,
although
microcephaly
was
not
constant
,
and
some
patients
had
severe
visual
disability
.
All
patients
were
homozygous
for
a
novel
intragenic
COH
1
deletion
spanning
exon
6
to
exon
16
,
suggesting
a
founder
effect
.
The
discovery
of
this
mutation
has
made
carrier
detection
and
prenatal
diagnosis
possible
in
this
population
.
Diseases
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Diseases presenting
"isolated greek island population. the clinical phenotype"
symptom
cohen syndrome
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