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
"holoprosencephaly"
symptom
kallmann syndrome
monosomy 21
pyruvate dehydrogenase deficiency
This symptom has already been validated
