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Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.
[kabuki syndrome]
Kabuki
syndrome
(
also
known
as
Niikawa-
Kuroki
syndrome
)
is
a
rare
autosomal
disorder
,
characterized
by
an
unusual
face
,
short
stature
,
skeletal
,
visceral
and
dermatoglyphic
abnormalities
,
cardiac
anomalies
,
mental
retardation
,
and
immunological
defects
.
Point
mutations
and
large
intragenic
deletions
and
duplications
of
the
mixed
lineage
leukemia
2
(
MLL
2
)
and
exons
deletions
of
lysine
demethylase
6
A
(
-
KDM
6
A
)
genes
have
been
identified
as
its
underlying
causes
.
We
report
on
the
first
description
of
a
Moroccan
Kabuki
syndrome
patient
with
typical
facial
features
,
developmental
delay
,
finger
pads
,
and
other
anomalies
carrying
a
novel
splice
site
mutation
in
the
MLL
2
gene
that
produces
a
truncated
and
likely
pathogenetic
form
of
MLL
2
protein
.
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