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
"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