Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics.
[cohen syndrome]
Cohen
syndrome
is
an
autosomal
recessive
,
multiple
congenital
anomalies
/
mental
retardation
(
MCA
/
MR
)
syndrome
,
caused
by
a
mutation
in
the
COH
1
gen
,
localized
on
chromosome
8
q
22
.
COH
1
encodes
a
transmembrane
protein
of
4
.
022
amino-acids
with
a
presumed
role
in
vesicle-mediated
sorting
and
intracellular
protein
transport
.
Clinical
features
are
non
progressive
psychomotor
retardation
and
microcephaly
,
characteristic
facial
features
,
retinal
dystrophy
,
and
intermittent
neutropenia
.
Examination
of
the
long
-term
evolution
of
6
patients
with
Cohen
syndrome
shows
that
the
clinical
features
are
rather
stable
during
evolution
.
Description
of
their
actual
behavior
on
the
basis
of
standardized
questionnaires
shows
that
no
severe
behavior
problems
are
observed
in
any
of
the
6
patients
.
Taking
into
account
their
mental
age
,
their
behavior
is
quiet
and
easy
to
handle
by
their
environment
.
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