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MCID: LKD029
MIFTS: 15
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Leukodystrophy, Hypomyelinating, 16
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 16:
Name: Leukodystrophy, Hypomyelinating, 16
57
6
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable severity de novo mutation (in most patients) onset in the first days or weeks of life some patients may have normal cognitive development Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases |
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OMIM
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57
Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by Simons et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (617964)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 16, is also known as hld16. An important gene associated with Leukodystrophy, Hypomyelinating, 16 is TMEM106B (Transmembrane Protein 106B). Affiliated tissues include brain. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617964 |
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 16:41
Brain
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 16:6
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 16.
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