Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[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
"cleft palate"
symptom
22q11.2 deletion syndrome
aniridia
congenital diaphragmatic hernia
cystinuria
hirschsprung disease
kabuki syndrome
kallmann syndrome
monosomy 21
neuralgic amyotrophy
oligodontia
phenylketonuria
This symptom has already been validated