Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Two siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies.
[monosomy 21]
A
sister
and
a
brother
with
46
,
XX
(
46
,
XY
)
,
-
21
,
+
der
(
15
)
(
q
22
.
1
;
q
22
.
1
)
mat
were
reported
whose
mother
had
a
karyotype
of
46
,
XX
,
t
(
15
;
21
)
(
q
22
.
1
;
22
.
1
)
and
was
phenotypically
normal
.
Both
sibs
were
mentally
retarded
and
dysmorphic
.
Moreover
,
the
sister
had
a
holoprosencephaly
with
congenital
hydrocephalus
,
and
the
brother
showed
congenital
hydrocephalus
.
Diseases
Validation
Diseases presenting
"hydrocephalus"
symptom
achondroplasia
alexander disease
canavan disease
congenital toxoplasmosis
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
monosomy 21
proteus syndrome
severe combined immunodeficiency
sneddon syndrome
von hippel-lindau disease
wiskott-aldrich syndrome
This symptom has already been validated
