Rare Diseases Symptoms Automatic Extraction
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Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).
[cohen syndrome]
Here
we
report
on
a
de
novo
apparently
balanced
reciprocal
5
q
;
7
p
translocation
in
a
15
-
year
-old
girl
with
apparent
Cohen
syndrome
characterized
by
hypotonia
,
obesity
,
multiple
congenital
anomalies
,
and
mental
retardation
.
This
case
may
indicate
that
the
gene
for
Cohen
syndrome
is
at
5
q
33
.
1
or
7
p
15
.
1
.
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