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[Current genetic issues and phenotypic variants in Kallmann syndrome].
[kallmann syndrome]
Kallmann
syndrome
is
characterized
by
hypogonadotropic
hypogonadism
and
anosmia
/
hyposmia
.
The
hypogonadotropic
hypogonadism
is
due
to
deficiency
of
gonadotropin-releasing
hormone
,
caused
by
a
defect
in
the
migration
of
neurons
synthesizing
gonadotropin-releasing
hormone
,
and
anosmia
/
hyposmia
is
related
to
the
absence
or
hypoplasia
of
the
olfactory
bulb
and
tracts
.
Some
patients
may
have
other
associated
abnormalities
such
as
renal
agenesis
,
cleft
palate
,
dental
agenesis
,
synkinesis
,
shortening
of
metacarpal
,
sensory
neural
hearing
loss
and
seizures
.
The
aim
of
this
paper
is
to
present
an
updated
review
of
the
clinical
and
molecular
basis
,
highlighting
the
relevance
of
knowledge
of
phenotypic
variants
in
Kallmann
syndrome
.
Diseases
Validation
Diseases presenting
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated