Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
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
"visual impairment"
symptom
adrenomyeloneuropathy
alexander disease
aniridia
coats disease
cohen syndrome
congenital toxoplasmosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
neonatal adrenoleukodystrophy
oculocutaneous albinism
werner syndrome
This symptom has already been validated