Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Phenotypic heterogeneity in AAAS gene mutation.
[triple a syndrome]
We
report
the
cases
of
two
sibs
of
North
African
origin
with
AAAS
gene
mutation
characterized
by
the
heterogeneity
of
their
phenotype
.
While
an
8
-
y-old
boy
presented
with
acute
adrenal
insufficiency
and
mental
retardation
,
the
diagnosis
was
suggested
by
the
clinical
history
of
his
6
-
y-old
sister
who
had
symptomatic
achalasia
and
chronic
adrenal
failure
.
Our
observations
corroborate
the
phenotypic
heterogeneity
reported
in
triple
A
syndrome
,
and
underline
the
possibility
of
a
variable
intra-familial
expression
.
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