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MCID: LKD027
MIFTS: 17
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Leukodystrophy, Hypomyelinating, 14
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Fetal diseases
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MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 14:
Name: Leukodystrophy, Hypomyelinating, 14
57
6
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy most patients die in the first years of life high prevalence among the roma population Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases External Ids:
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OMIM
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57
Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (617899)
MalaCards based summary : Leukodystrophy, Hypomyelinating, 14, is also known as hypomyelinating leukodystrophy 14. An important gene associated with Leukodystrophy, Hypomyelinating, 14 is UFM1 (Ubiquitin Fold Modifier 1). Affiliated tissues include brain. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617899 |
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MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 14:41
Brain
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ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 14:6
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Search
GEO
for disease gene expression data for Leukodystrophy, Hypomyelinating, 14.
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