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Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.
[kabuki syndrome]
We
present
a
case
of
a
9
-
month
-old
Hispanic
female
with
Kabuki
syndrome
with
some
infrequent
manifestations
including
a
single
umbilical
artery
,
butterfly
vertebrae
,
a
small
larynx
,
a
preauricular
pit
,
microtia
with
internal
ear
abnormalities
,
abnormal
calcium
metabolism
,
premature
thelarche
,
neonatal
/
persistent
hypoglycemia
and
eventration
of
the
diaphragm
.
She
was
found
to
have
a
previously
unreported
nonsense
MLL
2
mutation
.
This
is
the
first
case
that
includes
all
such
findings
occurring
simultaneously
that
was
genotyped
.
Diseases
Validation
Diseases presenting
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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