Rare Diseases Symptoms Automatic Extraction
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Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis.
[homocystinuria without methylmalonic aciduria]
Cobalamin
C
disease
is
a
rare
genetic
condition
resulting
in
methylmalonic
aciduria
,
homocystinuria
,
and
hematologic
abnormalities
.
Clinical
characteristics
include
ophthalmologic
findings
and
neurological
abnormalities
,
such
as
microcephaly
,
seizure
,
and
mental
retardation
.
The
authors
report
on
a
4
-
month
-old
patient
initially
diagnosed
with
hemophagocytic
lymphohistiocytosis
(
HLH
)
,
who
was
later
diagnosed
with
cobalamin
C
disease
.
Diseases
Validation
Diseases presenting
"seizure"
symptom
alexander disease
canavan disease
cohen syndrome
cowden syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
neonatal adrenoleukodystrophy
pendred syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
This symptom has already been validated