Rare Diseases Symptoms Automatic Extraction
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Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots.
[gm1 gangliosidosis]
A
7
-
month
old
girl
with
GM
1
gangliosidosis
type
1
manifested
with
diffuse
ecchymosis
and
Mongolian
spots
.
The
cutaneous
lesions
were
present
at
birth
before
the
appearance
of
the
other
features
of
the
disease
.
We
postulate
that
dermal
pigmentation
may
be
recognized
as
an
early
sign
of
GM
1
gangliosidosis
.
Diseases
Validation
Diseases presenting
"pigmentation"
symptom
aniridia
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
epidermolysis bullosa simplex
erythropoietic protoporphyria
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kallmann syndrome
kindler syndrome
oculocutaneous albinism
oral submucous fibrosis
phenylketonuria
proteus syndrome
wiskott-aldrich syndrome
This symptom has already been validated