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HLD18
MCID: LKD031
MIFTS: 19
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Leukodystrophy, Hypomyelinating, 18 (HLD18)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 18:
Name: Leukodystrophy, Hypomyelinating, 18
58
6
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
variable severity progressive disorder early death may occur onset in first months or years of life Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases |
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OMIM
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58
Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum (summary by Pant et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (618404)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 18, is also known as hld18. An important gene associated with Leukodystrophy, Hypomyelinating, 18 is DEGS1 (Delta 4-Desaturase, Sphingolipid 1). Affiliated tissues include brain, cerebellum and eye. |
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:618404 |
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 18:42
Brain,
Cerebellum,
Eye
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Articles related to Leukodystrophy, Hypomyelinating, 18:
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 18:6 (show all 14)
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 18.
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