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Two novel deletions in hypotonia-cystinuria syndrome.
[cystinuria]
Hypotonia
-
cystinuria
syndrome
(
HCS
)
is
an
autosomal
recessive
disorder
caused
by
combined
deletions
of
SLC
3
A
1
and
PREPL
.
Clinical
features
include
cystinuria
,
neonatal
hypotonia
with
spontaneous
improvement
,
poor
feeding
in
neonates
,
hyperphagia
in
childhood
,
growth
hormone
deficiency
,
and
variable
cognitive
problems
.
Only
14
families
with
6
different
deletions
have
been
reported
.
Patients
are
often
initially
misdiagnosed
,
while
correct
diagnosis
enables
therapeutic
interventions
.
We
report
two
novel
deletions
,
further
characterizing
the
clinical
and
molecular
genetics
spectrum
of
HCS
.
Diseases
Validation
Diseases presenting
"hyperphagia in childhood"
symptom
cystinuria
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