-
covering around nerve fibers.
Leukodystrophies may be
classified as
hypomyelinating or
demyelinating diseases, respectively,
depending on
whether the damage...
-
adult variants. Pelizaeus–Merzbacher
disease is the
common name for
hypomyelinating leukodystrophies (HLD).
There are at
least 26 HLD
variants cataloged...
-
progeria syndrome Neu-Laxova
syndrome 1 and 2 Neuropathy,
congenital hypomyelinating, 3
Noonan syndrome 1, 2, and 13
Oculodentodigital dysplasia, autosomal...
- this gene have been ****ociated with
hypogonadotropic hypogonadism and
hypomyelinating leukodystrophy with or
without oligodontia.
Marfan lipodystrophy syndrome...
- cataracts". www.marchofdimes.org.
Retrieved 2022-07-13. "Entry - #610532 - Leukodystrophy,
hypomyelinating, 5; HLD5 - OMIM". omim.org.
Retrieved 2022-07-13....
- MPZ EGR2 1q23.3 10q21.3
Autosomal recessive Also
known as
congenital hypomyelinating neuropathy;
phenotype largely overlapping with
subtype CMT4F CMT4F...
- G****tcher
allowed researchers to link DEGS1 to an
autosomal recessive hypomyelinating leukodystrophy. They had
found a
homozygous mutation in the gene in...
- Charcot-Marie-Tooth disease, type 1D, Dejerine–Sottas disease, and
Congenital Hypomyelinating Neuropathy. Two
studies have
linked EGR2
expression to proliferation...
- Sato K,
Shimazaki R, et al. (2010). "[A case of
autosomal recessive hypomyelinating leukodystrophy without GJA12
mutation presenting a
novel phenotype]"...
-
Hypomyelination and
Congenital Cataract (HCC), also
called leukodystrophy hypomyelinating type 5 (HLD5). This
disorder is
characterised by
congenital cataracts...
