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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
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated