-
adult variants. Pelizaeus–Merzbacher
disease is the
common name for
hypomyelinating leukodystrophies (HLD).
There are at
least 26 HLD
variants cataloged...
-
covering around nerve fibers.
Leukodystrophies may be
classified as
hypomyelinating or
demyelinating diseases, respectively,
depending on
whether the damage...
-
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...
- MPZ EGR2 1q23.3 10q21.3
Autosomal recessive Also
known as
congenital hypomyelinating neuropathy;
phenotype largely overlapping with
subtype CMT4F CMT4F...
-
Hypomyelination and
Congenital Cataract (HCC), also
called leukodystrophy hypomyelinating type 5 (HLD5). This
disorder is
characterised by
congenital cataracts...
- cataracts". www.marchofdimes.org.
Retrieved 2022-07-13. "Entry - #610532 - Leukodystrophy,
hypomyelinating, 5; HLD5 - OMIM". omim.org.
Retrieved 2022-07-13....
-
encoding RNA
Polymerase III
subunits cause an autosomal-recessive
hypomyelinating leukoencephalopathy". The
American Journal of
Human Genetics. 89 (5):...
- G****tcher
allowed researchers to link DEGS1 to an
autosomal recessive hypomyelinating leukodystrophy. They had
found a
homozygous mutation in the gene in...
-
include lethal congenital contracture syndrome type 7 and
congenital hypomyelinating neuropathy type 3. GRCh38:
Ensembl release 89: ENSG00000108797 – Ensembl...
