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A random Abstract
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MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
[cohen syndrome]
A
consanguineous
pedigree
is
described
where
14
individuals
are
affected
with
a
novel
autosomal
recessive
disorder
,
which
causes
static
moderate
mental
retardation
,
truncal
obesity
,
a
congenital
nonprogressive
retinal
dystrophy
and
micropenis
in
males
.
We
have
tentatively
named
this
condition
MORM
syndrome
.
It
shows
similarities
to
Bardet-
Biedl
syndrome
and
Cohen
syndrome
,
but
can
be
distinguished
by
clinical
features
;
the
age
of
onset
and
nonprogressive
nature
of
the
visual
impairment
,
the
lack
of
characteristic
facies
,
skin
or
gingival
infection
,
microcephaly
,
'
mottled
retina
'
,
polydactyly
and
small
penis
without
testicular
anomalies
.
Furthermore
,
linkage
to
the
known
Bardet-
Biedl
(
BBS
1
-
8
)
and
Cohen
syndrome
loci
was
excluded
.
Autozygosity
mapping
identified
a
single
homozygous
subtelomeric
region
shared
by
all
affecteds
on
chromosome
9
q
34
.
3
,
with
a
maximum
LOD
score
of
5
.
64
.
We
believe
this
to
be
the
first
example
of
the
identification
of
a
subtelomeric
recessive
locus
by
autozygosity
mapping
.
Diseases
Validation
Diseases presenting
"the lack of characteristic facies"
symptom
cohen syndrome
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