Rare Diseases Symptoms Automatic Extraction
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[Kabuki syndrome].
[kabuki syndrome]
A
clinical
case
of
the
rare
Kabuki
syndrome
is
described
in
a
2
-
year
-old
boy
.
At
the
time
of
birth
he
was
diagnosed
with
cleft
palate
and
from
the
age
of
six
months
he
presented
with
unusual
facial
features
and
slow
psychomotoric
development
.
At
the
age
of
two
he
has
no
language
and
only
minimal
speech
perception
and
is
showing
signs
of
growth
retardation
.
Diseases
Validation
Diseases presenting
"growth retardation"
symptom
achondroplasia
alpha-thalassemia
aromatase deficiency
cystinuria
dentin dysplasia
dentinogenesis imperfecta
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
pyruvate dehydrogenase deficiency
triple a syndrome
werner syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated
